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overflow: hidden; text-overflow: ellipsis; -webkit-line-clamp: 3; -webkit-box-orient: vertical; }</style><div class="col-xs-12 clearfix"><div class="u-floatLeft"><h1 class="PageHeader-title u-m0x u-fs30">Medical Genetics</h1><div class="u-tcGrayDark">15,228 Followers</div><div class="u-tcGrayDark u-mt2x">Recent papers in <b>Medical Genetics</b></div></div></div></div></div></div><div class="TabbedNavigation"><div class="container"><div class="row"><div class="col-xs-12 clearfix"><ul class="nav u-m0x u-p0x list-inline u-displayFlex"><li class="active"><a href="https://www.academia.edu/Documents/in/Medical_Genetics">Top Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Medical_Genetics/MostCited">Most Cited Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Medical_Genetics/MostDownloaded">Most Downloaded Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Medical_Genetics/MostRecent">Newest Papers</a></li><li><a class="" href="https://www.academia.edu/People/Medical_Genetics">People</a></li></ul></div><style type="text/css">ul.nav{flex-direction:row}@media(max-width: 567px){ul.nav{flex-direction:column}.TabbedNavigation li{max-width:100%}.TabbedNavigation li.active{background-color:var(--background-grey, #dddde2)}.TabbedNavigation li.active:before,.TabbedNavigation li.active:after{display:none}}</style></div></div></div><div class="container"><div class="row"><div class="col-xs-12"><div class="u-displayFlex"><div class="u-flexGrow1"><div class="works"><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_72563630 coauthored" data-work_id="72563630" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" rel="nofollow" href="https://www.academia.edu/72563630/Ribosomal_protein_S6_kinase_beta_1_gene_variants_cause_hypertrophic_cardiomyopathy">Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">BackgroundHypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with preserved or increased ejection fraction in the absence of secondary causes. Mutations in the sarcomeric protein-encoding genes predominantly cause HCM.... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_72563630" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">BackgroundHypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with preserved or increased ejection fraction in the absence of secondary causes. Mutations in the sarcomeric protein-encoding genes predominantly cause HCM. However, relatively little is known about the genetic impact of signalling proteins on HCM.Methods and resultsHere, using exome and targeted sequencing methods, we analysed two independent cohorts comprising 401 Indian patients with HCM and 3521 Indian controls. We identified novel variants in ribosomal protein S6 kinase beta-1 (RPS6KB1 or S6K1) gene in two unrelated Indian families as a potential candidate gene for HCM. The two unrelated HCM families had the same heterozygous missense S6K1 variant (p.G47W). In a replication association study, we identified two S6K1 heterozygotes variants (p.Q49K and p.Y62H) in the UK Biobank cardiomyopathy cohort (n=190) compared with matched controls (n=16 479). These variants are neither detected in region-specific...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/72563630" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="217311396" href="https://independent.academia.edu/ThiagarajanSairam">Thiagarajan Sairam</a><script data-card-contents-for-user="217311396" type="text/json">{"id":217311396,"first_name":"Thiagarajan","last_name":"Sairam","domain_name":"independent","page_name":"ThiagarajanSairam","display_name":"Thiagarajan Sairam","profile_url":"https://independent.academia.edu/ThiagarajanSairam?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-72563630">+2</span><div class="hidden js-additional-users-72563630"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://tifrh.academia.edu/HarshilChittora">Harshil Chittora</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/DeepakKashyap92">Deepak Kashyap</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-72563630'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-72563630').html(); 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Mutations in the sarcomeric protein-encoding genes predominantly cause HCM. However, relatively little is known about the genetic impact of signalling proteins on HCM.Methods and resultsHere, using exome and targeted sequencing methods, we analysed two independent cohorts comprising 401 Indian patients with HCM and 3521 Indian controls. We identified novel variants in ribosomal protein S6 kinase beta-1 (RPS6KB1 or S6K1) gene in two unrelated Indian families as a potential candidate gene for HCM. The two unrelated HCM families had the same heterozygous missense S6K1 variant (p.G47W). In a replication association study, we identified two S6K1 heterozygotes variants (p.Q49K and p.Y62H) in the UK Biobank cardiomyopathy cohort (n=190) compared with matched controls (n=16 479). These variants are neither detected in region-specific...","downloadable_attachments":[],"ordered_authors":[{"id":217311396,"first_name":"Thiagarajan","last_name":"Sairam","domain_name":"independent","page_name":"ThiagarajanSairam","display_name":"Thiagarajan Sairam","profile_url":"https://independent.academia.edu/ThiagarajanSairam?f_ri=2568","photo":"/images/s65_no_pic.png"},{"id":159997164,"first_name":"Harshil","last_name":"Chittora","domain_name":"tifrh","page_name":"HarshilChittora","display_name":"Harshil Chittora","profile_url":"https://tifrh.academia.edu/HarshilChittora?f_ri=2568","photo":"/images/s65_no_pic.png"},{"id":217295224,"first_name":"Deepak","last_name":"Kashyap","domain_name":"independent","page_name":"DeepakKashyap92","display_name":"Deepak Kashyap","profile_url":"https://independent.academia.edu/DeepakKashyap92?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences?f_ri=2568","nofollow":true}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_71769467" data-work_id="71769467" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/71769467/A_novel_hearing_loss_related_mutation_occurring_in_the_GJB2_basal_promoter">A novel hearing loss-related mutation occurring in the GJB2 basal promoter</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Mutations in the GJB2 gene are a major cause of non‐syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_71769467" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Mutations in the GJB2 gene are a major cause of non‐syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/71769467" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="3ce6a95078c9c710b73fae491c308045" rel="nofollow" data-download="{"attachment_id":80976068,"asset_id":71769467,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/80976068/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="59812031" href="https://independent.academia.edu/GFialho">Graça Fialho</a><script data-card-contents-for-user="59812031" type="text/json">{"id":59812031,"first_name":"Graça","last_name":"Fialho","domain_name":"independent","page_name":"GFialho","display_name":"Graça Fialho","profile_url":"https://independent.academia.edu/GFialho?f_ri=2568","photo":"https://0.academia-photos.com/59812031/156292589/145921460/s65_gra_a.fialho.jpeg"}</script></span></span></li><li class="js-paper-rank-work_71769467 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="71769467"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 71769467, container: ".js-paper-rank-work_71769467", }); 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In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.","downloadable_attachments":[{"id":80976068,"asset_id":71769467,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":59812031,"first_name":"Graça","last_name":"Fialho","domain_name":"independent","page_name":"GFialho","display_name":"Graça Fialho","profile_url":"https://independent.academia.edu/GFialho?f_ri=2568","photo":"https://0.academia-photos.com/59812031/156292589/145921460/s65_gra_a.fialho.jpeg"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":5462,"name":"Gap Junctions","url":"https://www.academia.edu/Documents/in/Gap_Junctions?f_ri=2568","nofollow":true},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=2568","nofollow":true},{"id":18529,"name":"Fluorescent Dyes and Reagents","url":"https://www.academia.edu/Documents/in/Fluorescent_Dyes_and_Reagents?f_ri=2568","nofollow":true},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=2568"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=2568"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=2568"},{"id":180673,"name":"Hearing Loss","url":"https://www.academia.edu/Documents/in/Hearing_Loss?f_ri=2568"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype?f_ri=2568"},{"id":1000981,"name":"GJB","url":"https://www.academia.edu/Documents/in/GJB?f_ri=2568"},{"id":1151963,"name":"Cochlea","url":"https://www.academia.edu/Documents/in/Cochlea?f_ri=2568"},{"id":1470734,"name":"Hereditary Hearing Loss","url":"https://www.academia.edu/Documents/in/Hereditary_Hearing_Loss?f_ri=2568"},{"id":2036633,"name":"Medical","url":"https://www.academia.edu/Documents/in/Medical?f_ri=2568"},{"id":2528084,"name":"Connexins","url":"https://www.academia.edu/Documents/in/Connexins?f_ri=2568"},{"id":3276666,"name":"fluorescent dyes","url":"https://www.academia.edu/Documents/in/fluorescent_dyes?f_ri=2568"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_64679383" data-work_id="64679383" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/64679383/Storytelling_statistics_and_hereditary_thought_the_narrative_support_of_early_statistics">Storytelling, statistics and hereditary thought: the narrative support of early statistics</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">This paper&#x27;s main contention is that some basically methodological developments in science which are apparently distant and unrelated can be seen as part of a sequential story. Focusing on general inferential and epistemological... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_64679383" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">This paper&#x27;s main contention is that some basically methodological developments in science which are apparently distant and unrelated can be seen as part of a sequential story. Focusing on general inferential and epistemological matters, the paper links occurrences separated by both in time and space, by formal and representational issues rather than social or disciplinary links. It focuses on a few limited aspects of several cognitive practices in medical and biological contexts separated by geography, disciplines and decades, but ...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/64679383" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="1b8bfdbccfd579150cae20f1c1c05b4b" rel="nofollow" data-download="{"attachment_id":76604814,"asset_id":64679383,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/76604814/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="178349158" href="https://independent.academia.edu/CL%C3%B3pezBeltr%C3%A1n">Carlos López Beltrán</a><script data-card-contents-for-user="178349158" type="text/json">{"id":178349158,"first_name":"Carlos","last_name":"López Beltrán","domain_name":"independent","page_name":"CLópezBeltrán","display_name":"Carlos López Beltrán","profile_url":"https://independent.academia.edu/CL%C3%B3pezBeltr%C3%A1n?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_64679383 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="64679383"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 64679383, container: ".js-paper-rank-work_64679383", }); 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Focusing on general inferential and epistemological matters, the paper links occurrences separated by both in time and space, by formal and representational issues rather than social or disciplinary links. It focuses on a few limited aspects of several cognitive practices in medical and biological contexts separated by geography, disciplines and decades, but ...","downloadable_attachments":[{"id":76604814,"asset_id":64679383,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":178349158,"first_name":"Carlos","last_name":"López Beltrán","domain_name":"independent","page_name":"CLópezBeltrán","display_name":"Carlos López Beltrán","profile_url":"https://independent.academia.edu/CL%C3%B3pezBeltr%C3%A1n?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":803,"name":"Philosophy","url":"https://www.academia.edu/Documents/in/Philosophy?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":9588,"name":"Natural History","url":"https://www.academia.edu/Documents/in/Natural_History?f_ri=2568","nofollow":true},{"id":24768,"name":"Nineteenth 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itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/69705149/EDAR_mutation_in_autosomal_dominant_hypohidrotic_ectodermal_dysplasia_in_two_Swedish_families">EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_69705149" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis. The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED. A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X), thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene. The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American f...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/69705149" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="bea03aaf37557040f5518bfc6785d3a8" rel="nofollow" data-download="{"attachment_id":79698166,"asset_id":69705149,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/79698166/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="162169204" href="https://independent.academia.edu/MarcusSchmittEgenolf">Marcus Schmitt-Egenolf</a><script data-card-contents-for-user="162169204" type="text/json">{"id":162169204,"first_name":"Marcus","last_name":"Schmitt-Egenolf","domain_name":"independent","page_name":"MarcusSchmittEgenolf","display_name":"Marcus Schmitt-Egenolf","profile_url":"https://independent.academia.edu/MarcusSchmittEgenolf?f_ri=2568","photo":"https://gravatar.com/avatar/292661cb27e0eda635e8333e46264f45?s=65"}</script></span></span></li><li class="js-paper-rank-work_69705149 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="69705149"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 69705149, container: ".js-paper-rank-work_69705149", }); 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The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American f...","downloadable_attachments":[{"id":79698166,"asset_id":69705149,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":162169204,"first_name":"Marcus","last_name":"Schmitt-Egenolf","domain_name":"independent","page_name":"MarcusSchmittEgenolf","display_name":"Marcus Schmitt-Egenolf","profile_url":"https://independent.academia.edu/MarcusSchmittEgenolf?f_ri=2568","photo":"https://gravatar.com/avatar/292661cb27e0eda635e8333e46264f45?s=65"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical 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type="text/json">{"id":967,"name":"Intellectual Property","url":"https://www.academia.edu/Documents/in/Intellectual_Property?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="3216" rel="nofollow" href="https://www.academia.edu/Documents/in/Genomics">Genomics</a><script data-card-contents-for-ri="3216" type="text/json">{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=68632317]'), work: 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Therapy","url":"https://www.academia.edu/Documents/in/Cancer_Therapy?f_ri=2568"},{"id":121665,"name":"DNA methylation","url":"https://www.academia.edu/Documents/in/DNA_methylation?f_ri=2568"},{"id":309981,"name":"Human Genome","url":"https://www.academia.edu/Documents/in/Human_Genome?f_ri=2568"},{"id":469018,"name":"Neoplasms","url":"https://www.academia.edu/Documents/in/Neoplasms?f_ri=2568"},{"id":758278,"name":"Large Scale","url":"https://www.academia.edu/Documents/in/Large_Scale?f_ri=2568"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_53684569" data-work_id="53684569" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/53684569/Establishing_the_Essential_Nursing_Competencies_for_Genetics_and_Genomics">Establishing the Essential Nursing Competencies for Genetics and Genomics</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">To describe the development and process of consensus used to establish essential genetic and genomic nursing competencies relevant to the entire nursing profession in the United States (US) regardless of academic preparation, role,... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_53684569" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">To describe the development and process of consensus used to establish essential genetic and genomic nursing competencies relevant to the entire nursing profession in the United States (US) regardless of academic preparation, role, practice setting, or clinical specialty. Organizing Construct: Rogers' diffusion of innovation theory applied to the adoption of genetics and genomics as the central science for health care. Methods: Multiphased national nursing initiative to develop, refine, and establish with consensus essential competencies in genetics and genomics for all nurses. Findings: Genetics and genomics have emerged as the central science for health care in the 21st century, transforming recommendations for nursing education, practice, regulation and quality control. Conclusion: The Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics indicate the minimal criteria for competency in genetics and genomics for the entire nursing profession in the US.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/53684569" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="3efa801872094eb3aff9740f57fcafb2" rel="nofollow" data-download="{"attachment_id":70413232,"asset_id":53684569,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/70413232/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="47043814" href="https://independent.academia.edu/KathleenCalzone">Kathleen Calzone</a><script data-card-contents-for-user="47043814" type="text/json">{"id":47043814,"first_name":"Kathleen","last_name":"Calzone","domain_name":"independent","page_name":"KathleenCalzone","display_name":"Kathleen Calzone","profile_url":"https://independent.academia.edu/KathleenCalzone?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_53684569 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="53684569"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 53684569, container: ".js-paper-rank-work_53684569", }); 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$(".js-view-count[data-work-id=53684569]").text(description); $(".js-view-count-work_53684569").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_53684569").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="53684569"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">16</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="156" rel="nofollow" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="588" rel="nofollow" href="https://www.academia.edu/Documents/in/Nursing">Nursing</a>, <script data-card-contents-for-ri="588" type="text/json">{"id":588,"name":"Nursing","url":"https://www.academia.edu/Documents/in/Nursing?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="3216" rel="nofollow" href="https://www.academia.edu/Documents/in/Genomics">Genomics</a><script data-card-contents-for-ri="3216" type="text/json">{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=53684569]'), work: {"id":53684569,"title":"Establishing the Essential Nursing Competencies for Genetics and Genomics","created_at":"2021-09-28T04:51:08.762-07:00","url":"https://www.academia.edu/53684569/Establishing_the_Essential_Nursing_Competencies_for_Genetics_and_Genomics?f_ri=2568","dom_id":"work_53684569","summary":"To describe the development and process of consensus used to establish essential genetic and genomic nursing competencies relevant to the entire nursing profession in the United States (US) regardless of academic preparation, role, practice setting, or clinical specialty. Organizing Construct: Rogers' diffusion of innovation theory applied to the adoption of genetics and genomics as the central science for health care. Methods: Multiphased national nursing initiative to develop, refine, and establish with consensus essential competencies in genetics and genomics for all nurses. Findings: Genetics and genomics have emerged as the central science for health care in the 21st century, transforming recommendations for nursing education, practice, regulation and quality control. 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Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_57119850" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the a...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/57119850" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="2cd3c5f6ec07211b85aec41d85470edc" rel="nofollow" data-download="{"attachment_id":72171547,"asset_id":57119850,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/72171547/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="35115734" href="https://independent.academia.edu/HelenFryssira">Helen Fryssira</a><script data-card-contents-for-user="35115734" type="text/json">{"id":35115734,"first_name":"Helen","last_name":"Fryssira","domain_name":"independent","page_name":"HelenFryssira","display_name":"Helen Fryssira","profile_url":"https://independent.academia.edu/HelenFryssira?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_57119850 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="57119850"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 57119850, container: ".js-paper-rank-work_57119850", }); 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Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. 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Strong banding of chromosomes was found to be favoured by the presence in the stain of high concentrations of... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_30074889" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Chromatographic analyses of commercial samples of Romanovsky stains were followed by various chemical and staining studies. Strong banding of chromosomes was found to be favoured by the presence in the stain of high concentrations of Methylene Violet Bernthsen and its immediate homologues. Chromatographic analysis showed that these dyes are present in dry Leishman and Giemsa powders only in small proportion. However, additional active dye may be generated during the process of making up staining solutions from the dry powders, if the methanol used is not contaminated with formic acid and if the period of heating is not too brief.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/30074889" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="6d82aab57ab4578d60acb32f0d31c2ac" rel="nofollow" data-download="{"attachment_id":50523761,"asset_id":30074889,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/50523761/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="57077207" href="https://independent.academia.edu/RichardHorobin">Richard Horobin</a><script data-card-contents-for-user="57077207" type="text/json">{"id":57077207,"first_name":"Richard","last_name":"Horobin","domain_name":"independent","page_name":"RichardHorobin","display_name":"Richard Horobin","profile_url":"https://independent.academia.edu/RichardHorobin?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_30074889 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="30074889"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 30074889, container: ".js-paper-rank-work_30074889", }); 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Strong banding of chromosomes was found to be favoured by the presence in the stain of high concentrations of Methylene Violet Bernthsen and its immediate homologues. Chromatographic analysis showed that these dyes are present in dry Leishman and Giemsa powders only in small proportion. However, additional active dye may be generated during the process of making up staining solutions from the dry powders, if the methanol used is not contaminated with formic acid and if the period of heating is not too brief.","downloadable_attachments":[{"id":50523761,"asset_id":30074889,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":57077207,"first_name":"Richard","last_name":"Horobin","domain_name":"independent","page_name":"RichardHorobin","display_name":"Richard Horobin","profile_url":"https://independent.academia.edu/RichardHorobin?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":1135,"name":"Human Genetics","url":"https://www.academia.edu/Documents/in/Human_Genetics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":4083,"name":"Complementary and Alternative Medicine","url":"https://www.academia.edu/Documents/in/Complementary_and_Alternative_Medicine?f_ri=2568","nofollow":true},{"id":4656,"name":"Chromatography","url":"https://www.academia.edu/Documents/in/Chromatography?f_ri=2568"},{"id":54344,"name":"Methods","url":"https://www.academia.edu/Documents/in/Methods?f_ri=2568"},{"id":112334,"name":"Methanol","url":"https://www.academia.edu/Documents/in/Methanol?f_ri=2568"},{"id":196381,"name":"Methylene Blue","url":"https://www.academia.edu/Documents/in/Methylene_Blue?f_ri=2568"},{"id":396848,"name":"Formic Acid","url":"https://www.academia.edu/Documents/in/Formic_Acid?f_ri=2568"},{"id":413195,"name":"Time Factors","url":"https://www.academia.edu/Documents/in/Time_Factors?f_ri=2568"},{"id":1147230,"name":"Chromosomes","url":"https://www.academia.edu/Documents/in/Chromosomes?f_ri=2568"},{"id":1491514,"name":"*Hot Temperature","url":"https://www.academia.edu/Documents/in/_Hot_Temperature?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_13264697" data-work_id="13264697" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/13264697/Genetics_of_dyslexia_the_evolving_landscape">Genetics of dyslexia: the evolving landscape</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/13264697" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="f437f45a64418432fa94748d2733d848" rel="nofollow" data-download="{"attachment_id":45533362,"asset_id":13264697,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/45533362/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="32507005" href="https://mhn.academia.edu/GerdSchulteK%C3%B6rne">Gerd Schulte-Körne</a><script data-card-contents-for-user="32507005" type="text/json">{"id":32507005,"first_name":"Gerd","last_name":"Schulte-Körne","domain_name":"mhn","page_name":"GerdSchulteKörne","display_name":"Gerd Schulte-Körne","profile_url":"https://mhn.academia.edu/GerdSchulteK%C3%B6rne?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_13264697 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="13264697"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 13264697, container: ".js-paper-rank-work_13264697", }); 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The pathvvay is better knovvn thi:'m the... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_16198857" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">and Introduction Abstract In the choice betvveen male or developrnent !s genetically determined. either testis ar ()vary, This by genes that hm',jrl been disc;()Vefed knockout experiments in mice. The pathvvay is better knovvn thi:'m the s cascade to testicular differentiation. in thi~cascade: MolO</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/16198857" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="19e1b48f894d71dfc2bd673666901671" rel="nofollow" data-download="{"attachment_id":42639159,"asset_id":16198857,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/42639159/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="35308149" href="https://independent.academia.edu/CorinneCotinot">Corinne Cotinot</a><script data-card-contents-for-user="35308149" type="text/json">{"id":35308149,"first_name":"Corinne","last_name":"Cotinot","domain_name":"independent","page_name":"CorinneCotinot","display_name":"Corinne Cotinot","profile_url":"https://independent.academia.edu/CorinneCotinot?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_16198857 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="16198857"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 16198857, container: ".js-paper-rank-work_16198857", }); 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The pathvvay is better knovvn thi:'m the s cascade to testicular differentiation. in thi~cascade: MolO","downloadable_attachments":[{"id":42639159,"asset_id":16198857,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":35308149,"first_name":"Corinne","last_name":"Cotinot","domain_name":"independent","page_name":"CorinneCotinot","display_name":"Corinne Cotinot","profile_url":"https://independent.academia.edu/CorinneCotinot?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2513,"name":"Molecular Biology","url":"https://www.academia.edu/Documents/in/Molecular_Biology?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":19632,"name":"Molecular Genetics","url":"https://www.academia.edu/Documents/in/Molecular_Genetics?f_ri=2568","nofollow":true},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true},{"id":180491,"name":"Sex Determination","url":"https://www.academia.edu/Documents/in/Sex_Determination?f_ri=2568"},{"id":564492,"name":"Sex Differentiation","url":"https://www.academia.edu/Documents/in/Sex_Differentiation?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_67148066" data-work_id="67148066" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/67148066/American_College_of_Medical_Genetics_and_Genomics_technical_standards_and_guidelines_microarray_analysis_for_chromosome_abnormalities_in_neoplastic_disorders">American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Standards and Guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_67148066" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Standards and Guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily ensure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular standard or guideline was adopted and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/67148066" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="37b59ae3ff4057743e2b52425d3d1006" rel="nofollow" data-download="{"attachment_id":78074879,"asset_id":67148066,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/78074879/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="42492038" href="https://independent.academia.edu/CYoshinagaitano">Christine Yoshinagaitano</a><script data-card-contents-for-user="42492038" type="text/json">{"id":42492038,"first_name":"Christine","last_name":"Yoshinagaitano","domain_name":"independent","page_name":"CYoshinagaitano","display_name":"Christine Yoshinagaitano","profile_url":"https://independent.academia.edu/CYoshinagaitano?f_ri=2568","photo":"https://0.academia-photos.com/42492038/25283409/24044317/s65_christine.yoshinagaitano.jpg"}</script></span></span></li><li class="js-paper-rank-work_67148066 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="67148066"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 67148066, container: ".js-paper-rank-work_67148066", }); 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$(".js-view-count[data-work-id=67148066]").text(description); $(".js-view-count-work_67148066").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_67148066").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="67148066"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">14</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="156" rel="nofollow" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="3216" rel="nofollow" href="https://www.academia.edu/Documents/in/Genomics">Genomics</a>, <script data-card-contents-for-ri="3216" type="text/json">{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="26327" rel="nofollow" href="https://www.academia.edu/Documents/in/Medicine">Medicine</a><script data-card-contents-for-ri="26327" type="text/json">{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=67148066]'), work: {"id":67148066,"title":"American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders","created_at":"2022-01-04T17:23:14.160-08:00","url":"https://www.academia.edu/67148066/American_College_of_Medical_Genetics_and_Genomics_technical_standards_and_guidelines_microarray_analysis_for_chromosome_abnormalities_in_neoplastic_disorders?f_ri=2568","dom_id":"work_67148066","summary":"Standards and Guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily ensure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular standard or guideline was adopted and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.","downloadable_attachments":[{"id":78074879,"asset_id":67148066,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":42492038,"first_name":"Christine","last_name":"Yoshinagaitano","domain_name":"independent","page_name":"CYoshinagaitano","display_name":"Christine Yoshinagaitano","profile_url":"https://independent.academia.edu/CYoshinagaitano?f_ri=2568","photo":"https://0.academia-photos.com/42492038/25283409/24044317/s65_christine.yoshinagaitano.jpg"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=2568","nofollow":true},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=2568","nofollow":true},{"id":53293,"name":"Software","url":"https://www.academia.edu/Documents/in/Software?f_ri=2568"},{"id":73153,"name":"Genetic Testing","url":"https://www.academia.edu/Documents/in/Genetic_Testing?f_ri=2568"},{"id":98134,"name":"United States","url":"https://www.academia.edu/Documents/in/United_States?f_ri=2568"},{"id":111629,"name":"Incidental Findings","url":"https://www.academia.edu/Documents/in/Incidental_Findings?f_ri=2568"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=2568"},{"id":458182,"name":"Consanguinity","url":"https://www.academia.edu/Documents/in/Consanguinity?f_ri=2568"},{"id":469018,"name":"Neoplasms","url":"https://www.academia.edu/Documents/in/Neoplasms?f_ri=2568"},{"id":549280,"name":"Reproducibility of Results","url":"https://www.academia.edu/Documents/in/Reproducibility_of_Results?f_ri=2568"},{"id":2878071,"name":"guidelines as topic","url":"https://www.academia.edu/Documents/in/guidelines_as_topic?f_ri=2568"},{"id":3677822,"name":"Chromosome aberrations","url":"https://www.academia.edu/Documents/in/Chromosome_aberrations?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_10553913" data-work_id="10553913" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/10553913/_10_001_Dalmatians_Croatia_Launches_Its_National_Biobank">“10 001 Dalmatians:” Croatia Launches Its National Biobank</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/10553913" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="1d42d2e0885ef2b9a05d9de4625e9e5b" rel="nofollow" data-download="{"attachment_id":47307907,"asset_id":10553913,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/47307907/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="25837450" href="https://independent.academia.edu/IgorRudan">Igor Rudan</a><script data-card-contents-for-user="25837450" type="text/json">{"id":25837450,"first_name":"Igor","last_name":"Rudan","domain_name":"independent","page_name":"IgorRudan","display_name":"Igor Rudan","profile_url":"https://independent.academia.edu/IgorRudan?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_10553913 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="10553913"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 10553913, container: ".js-paper-rank-work_10553913", }); });</script></li><li class="js-percentile-work_10553913 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 10553913; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_10553913"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_10553913 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="10553913"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 10553913; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=10553913]").text(description); $(".js-view-count-work_10553913").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_10553913").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="10553913"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">5</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="66744" rel="nofollow" href="https://www.academia.edu/Documents/in/Biomedical_Research">Biomedical Research</a>, <script data-card-contents-for-ri="66744" type="text/json">{"id":66744,"name":"Biomedical Research","url":"https://www.academia.edu/Documents/in/Biomedical_Research?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="105232" rel="nofollow" href="https://www.academia.edu/Documents/in/Croatia">Croatia</a>, <script data-card-contents-for-ri="105232" type="text/json">{"id":105232,"name":"Croatia","url":"https://www.academia.edu/Documents/in/Croatia?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="209856" rel="nofollow" href="https://www.academia.edu/Documents/in/Registries">Registries</a><script data-card-contents-for-ri="209856" type="text/json">{"id":209856,"name":"Registries","url":"https://www.academia.edu/Documents/in/Registries?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=10553913]'), work: {"id":10553913,"title":"“10 001 Dalmatians:” Croatia Launches Its National Biobank","created_at":"2015-02-05T14:36:46.393-08:00","url":"https://www.academia.edu/10553913/_10_001_Dalmatians_Croatia_Launches_Its_National_Biobank?f_ri=2568","dom_id":"work_10553913","summary":null,"downloadable_attachments":[{"id":47307907,"asset_id":10553913,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":25837450,"first_name":"Igor","last_name":"Rudan","domain_name":"independent","page_name":"IgorRudan","display_name":"Igor Rudan","profile_url":"https://independent.academia.edu/IgorRudan?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":66744,"name":"Biomedical Research","url":"https://www.academia.edu/Documents/in/Biomedical_Research?f_ri=2568","nofollow":true},{"id":105232,"name":"Croatia","url":"https://www.academia.edu/Documents/in/Croatia?f_ri=2568","nofollow":true},{"id":209856,"name":"Registries","url":"https://www.academia.edu/Documents/in/Registries?f_ri=2568","nofollow":true},{"id":1153482,"name":"Cooperative Behavior","url":"https://www.academia.edu/Documents/in/Cooperative_Behavior?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_76966249" data-work_id="76966249" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/76966249/Clinical_genetics_issues_encountered_by_family_physicians">Clinical genetics issues encountered by family physicians</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Purpose: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants. Methods: Questionnaires were mailed to a nationwide, random sample of 498... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_76966249" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Purpose: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants. Methods: Questionnaires were mailed to a nationwide, random sample of 498 practicing family physicians, asking how many times in the past year they discussed genetic information about 19 familial or genetic conditions with patients and what proportion of the families with each genetic condition were referred for genetics consultation. Factor analysis was used to group the conditions. Results: The response rate was 38% (n ϭ 190). Respondents were similar to nonrespondents except that more were women. Most family physicians reported discussing the genetics of common cancers, cardiovascular disease, and Alzheimer's disease with two or more patients in the past year. Thirteen percent had referred families for genetics assessment of breast-ovarian cancer but only two made genetics referrals for cardiovascular disease or dementia. 25% to 50% of family physicians had addressed genetic issues in at least one family with hemoglobinopathy, a blood clotting disorder, hemochromatosis, mental illness, vision loss or deafness, chromosome abnormality, infertility or pregnancy loss, congenital anomalies, mental retardation, and neurofibromatosis. Most cases were not referred to geneticists. Of respondents, 23% said that genetics consultation is very difficult to obtain or unavailable and 18% listed ethical and social dilemmas related to pursuing genetic diagnosis. Conclusion: Nationwide, family physicians address a variety of genetics issues with patients, most frequently consulting geneticists for perinatal conditions and familial cancers. Access to genetics consultation is more difficult in rural areas. These data may be used in organizing genetics services and in planning professional education programs for primary care clinicians.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/76966249" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="78d99c85ba0de62afc7db93a238a0401" rel="nofollow" data-download="{"attachment_id":84496060,"asset_id":76966249,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/84496060/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="64382664" href="https://independent.academia.edu/Zyzanski">Stephen Zyzanski</a><script data-card-contents-for-user="64382664" type="text/json">{"id":64382664,"first_name":"Stephen","last_name":"Zyzanski","domain_name":"independent","page_name":"Zyzanski","display_name":"Stephen Zyzanski","profile_url":"https://independent.academia.edu/Zyzanski?f_ri=2568","photo":"https://0.academia-photos.com/64382664/16729313/17004632/s65_stephen.zyzanski.jpg"}</script></span></span></li><li class="js-paper-rank-work_76966249 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="76966249"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 76966249, container: ".js-paper-rank-work_76966249", }); 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$(".js-view-count[data-work-id=76966249]").text(description); $(".js-view-count-work_76966249").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_76966249").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="76966249"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">6</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="156" rel="nofollow" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="26327" rel="nofollow" href="https://www.academia.edu/Documents/in/Medicine">Medicine</a>, <script data-card-contents-for-ri="26327" type="text/json">{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="244814" rel="nofollow" href="https://www.academia.edu/Documents/in/Clinical_Sciences">Clinical Sciences</a><script data-card-contents-for-ri="244814" type="text/json">{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=76966249]'), work: {"id":76966249,"title":"Clinical genetics issues encountered by family physicians","created_at":"2022-04-19T08:26:17.380-07:00","url":"https://www.academia.edu/76966249/Clinical_genetics_issues_encountered_by_family_physicians?f_ri=2568","dom_id":"work_76966249","summary":"Purpose: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants. Methods: Questionnaires were mailed to a nationwide, random sample of 498 practicing family physicians, asking how many times in the past year they discussed genetic information about 19 familial or genetic conditions with patients and what proportion of the families with each genetic condition were referred for genetics consultation. Factor analysis was used to group the conditions. Results: The response rate was 38% (n ϭ 190). Respondents were similar to nonrespondents except that more were women. Most family physicians reported discussing the genetics of common cancers, cardiovascular disease, and Alzheimer's disease with two or more patients in the past year. Thirteen percent had referred families for genetics assessment of breast-ovarian cancer but only two made genetics referrals for cardiovascular disease or dementia. 25% to 50% of family physicians had addressed genetic issues in at least one family with hemoglobinopathy, a blood clotting disorder, hemochromatosis, mental illness, vision loss or deafness, chromosome abnormality, infertility or pregnancy loss, congenital anomalies, mental retardation, and neurofibromatosis. Most cases were not referred to geneticists. Of respondents, 23% said that genetics consultation is very difficult to obtain or unavailable and 18% listed ethical and social dilemmas related to pursuing genetic diagnosis. Conclusion: Nationwide, family physicians address a variety of genetics issues with patients, most frequently consulting geneticists for perinatal conditions and familial cancers. Access to genetics consultation is more difficult in rural areas. These data may be used in organizing genetics services and in planning professional education programs for primary care clinicians.","downloadable_attachments":[{"id":84496060,"asset_id":76966249,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":64382664,"first_name":"Stephen","last_name":"Zyzanski","domain_name":"independent","page_name":"Zyzanski","display_name":"Stephen Zyzanski","profile_url":"https://independent.academia.edu/Zyzanski?f_ri=2568","photo":"https://0.academia-photos.com/64382664/16729313/17004632/s65_stephen.zyzanski.jpg"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=2568","nofollow":true},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=2568","nofollow":true},{"id":327850,"name":"Questionnaires","url":"https://www.academia.edu/Documents/in/Questionnaires?f_ri=2568"},{"id":815067,"name":"Family Physician","url":"https://www.academia.edu/Documents/in/Family_Physician?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_65805743" data-work_id="65805743" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/65805743/Chemiluminescent_detection_of_blotted_PCR_products_CB_PCR_of_two_CAG_dynamic_mutations_Huntingtons_disease_and_spinocerebellar_ataxia_type_1_">Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_65805743" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of alleles and permits a rapid analysis of at risk persons. The system involves PCR of the samples, separation of alleles on polyacrylamidegels, Southern blotting, and hybridisation with specific primers 3' labelled with fluorescein (Fl)-dUTP as probes. CB-PCR retains the isotopic sensitivity for accurate allele determination, avoids isotopic manipulation, and provides the advantages of safety, long term storage of probes, and recycling of hybridisation solutions.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/65805743" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="0d7b4e4ffbdbfe37cf53ab6cbfee887d" rel="nofollow" data-download="{"attachment_id":77242918,"asset_id":65805743,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/77242918/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="101473683" href="https://independent.academia.edu/corraljordi">jordi corral</a><script data-card-contents-for-user="101473683" type="text/json">{"id":101473683,"first_name":"jordi","last_name":"corral","domain_name":"independent","page_name":"corraljordi","display_name":"jordi corral","profile_url":"https://independent.academia.edu/corraljordi?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_65805743 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="65805743"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 65805743, container: ".js-paper-rank-work_65805743", }); });</script></li><li class="js-percentile-work_65805743 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 65805743; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_65805743"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_65805743 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="65805743"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 65805743; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=65805743]").text(description); $(".js-view-count-work_65805743").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_65805743").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="65805743"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">12</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="8207" rel="nofollow" href="https://www.academia.edu/Documents/in/Risk">Risk</a>, <script data-card-contents-for-ri="8207" type="text/json">{"id":8207,"name":"Risk","url":"https://www.academia.edu/Documents/in/Risk?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="47884" rel="nofollow" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a>, <script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="107154" rel="nofollow" href="https://www.academia.edu/Documents/in/Spinocerebellar_ataxia">Spinocerebellar ataxia</a><script data-card-contents-for-ri="107154" type="text/json">{"id":107154,"name":"Spinocerebellar ataxia","url":"https://www.academia.edu/Documents/in/Spinocerebellar_ataxia?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=65805743]'), work: {"id":65805743,"title":"Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)","created_at":"2021-12-24T00:32:56.123-08:00","url":"https://www.academia.edu/65805743/Chemiluminescent_detection_of_blotted_PCR_products_CB_PCR_of_two_CAG_dynamic_mutations_Huntingtons_disease_and_spinocerebellar_ataxia_type_1_?f_ri=2568","dom_id":"work_65805743","summary":"We have used a non-isotopic PCR assay based on the chemiluminescent detection of blotted PCR products (CB-PCR) for two dynamic mutation diseases (Huntington's disease and spinocerebellar ataxia type 1). This gives an accurate sizing of alleles and permits a rapid analysis of at risk persons. The system involves PCR of the samples, separation of alleles on polyacrylamidegels, Southern blotting, and hybridisation with specific primers 3' labelled with fluorescein (Fl)-dUTP as probes. CB-PCR retains the isotopic sensitivity for accurate allele determination, avoids isotopic manipulation, and provides the advantages of safety, long term storage of probes, and recycling of hybridisation solutions.","downloadable_attachments":[{"id":77242918,"asset_id":65805743,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":101473683,"first_name":"jordi","last_name":"corral","domain_name":"independent","page_name":"corraljordi","display_name":"jordi corral","profile_url":"https://independent.academia.edu/corraljordi?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":8207,"name":"Risk","url":"https://www.academia.edu/Documents/in/Risk?f_ri=2568","nofollow":true},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true},{"id":107154,"name":"Spinocerebellar ataxia","url":"https://www.academia.edu/Documents/in/Spinocerebellar_ataxia?f_ri=2568","nofollow":true},{"id":118339,"name":"Polymerase Chain Reaction","url":"https://www.academia.edu/Documents/in/Polymerase_Chain_Reaction?f_ri=2568"},{"id":193464,"name":"Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis","url":"https://www.academia.edu/Documents/in/Sodium_Dodecyl_Sulfate-Polyacrylamide_Gel_Electrophoresis?f_ri=2568"},{"id":662721,"name":"Huntington disease","url":"https://www.academia.edu/Documents/in/Huntington_disease?f_ri=2568"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence?f_ri=2568"},{"id":2036633,"name":"Medical","url":"https://www.academia.edu/Documents/in/Medical?f_ri=2568"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data?f_ri=2568"},{"id":2780137,"name":"alleles","url":"https://www.academia.edu/Documents/in/alleles?f_ri=2568"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_60735570" data-work_id="60735570" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/60735570/Applications_of_genomic_medicine_in_endocrinology_and_post_genomic_endocrine_research">Applications of genomic medicine in endocrinology and post-genomic endocrine research</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">In the mid 1980&#39;s, two advances revolutionized Medicine in a way that is comparable only to some of the most important events in the approximately 3,000 years of its history. The first was the introduction of the concept of... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_60735570" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">In the mid 1980&#39;s, two advances revolutionized Medicine in a way that is comparable only to some of the most important events in the approximately 3,000 years of its history. The first was the introduction of the concept of &quot;positional cloning&quot;, i.e. the idea that one can identify genes for human disease though knowing nothing or very little about their function. The second was the discovery of the method of polymerase chain reaction (PCR) which made DNA easier to work with for all biomedical researchers and clinicians. Fresh in the history of Endocrinology were the great discoveries of neuroendocrinology, and even more contemporary and potent, the influence of the then emerging field of molecular endocrinology. Cancer medicine and traditional human genetics were the fields that benefited most from the first applications of the new genomic concepts and technologies. Almost two decades later, and after the first successful applications of positional cloning in Endocrine...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/60735570" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="7f19a3c710cf0efc12de91cd6c138d81" rel="nofollow" data-download="{"attachment_id":74044619,"asset_id":60735570,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/74044619/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="32297236" href="https://nih.academia.edu/ConstantineStratakis">Constantine Stratakis</a><script data-card-contents-for-user="32297236" type="text/json">{"id":32297236,"first_name":"Constantine","last_name":"Stratakis","domain_name":"nih","page_name":"ConstantineStratakis","display_name":"Constantine Stratakis","profile_url":"https://nih.academia.edu/ConstantineStratakis?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_60735570 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="60735570"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 60735570, container: ".js-paper-rank-work_60735570", }); 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The first was the introduction of the concept of \u0026quot;positional cloning\u0026quot;, i.e. the idea that one can identify genes for human disease though knowing nothing or very little about their function. The second was the discovery of the method of polymerase chain reaction (PCR) which made DNA easier to work with for all biomedical researchers and clinicians. Fresh in the history of Endocrinology were the great discoveries of neuroendocrinology, and even more contemporary and potent, the influence of the then emerging field of molecular endocrinology. Cancer medicine and traditional human genetics were the fields that benefited most from the first applications of the new genomic concepts and technologies. Almost two decades later, and after the first successful applications of positional cloning in Endocrine...","downloadable_attachments":[{"id":74044619,"asset_id":60735570,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":32297236,"first_name":"Constantine","last_name":"Stratakis","domain_name":"nih","page_name":"ConstantineStratakis","display_name":"Constantine Stratakis","profile_url":"https://nih.academia.edu/ConstantineStratakis?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":154,"name":"Endocrinology","url":"https://www.academia.edu/Documents/in/Endocrinology?f_ri=2568","nofollow":true},{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":1135,"name":"Human Genetics","url":"https://www.academia.edu/Documents/in/Human_Genetics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=2568"},{"id":8270,"name":"Forecasting","url":"https://www.academia.edu/Documents/in/Forecasting?f_ri=2568"},{"id":24405,"name":"Translational Research","url":"https://www.academia.edu/Documents/in/Translational_Research?f_ri=2568"},{"id":104853,"name":"Hormones","url":"https://www.academia.edu/Documents/in/Hormones?f_ri=2568"},{"id":193772,"name":"Genetic research","url":"https://www.academia.edu/Documents/in/Genetic_research?f_ri=2568"},{"id":295728,"name":"Molecular cloning","url":"https://www.academia.edu/Documents/in/Molecular_cloning?f_ri=2568"},{"id":309981,"name":"Human Genome","url":"https://www.academia.edu/Documents/in/Human_Genome?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_60023959" data-work_id="60023959" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/60023959/Mutations_inCEP120cause_Joubert_syndrome_as_well_as_complex_ciliopathy_phenotypes">Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_60023959" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene. METHODS: Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses. Moreover, exome sequencing was performed in one fetus with tectocerebellar dysraphia with occipital encephalocele (TCDOE), molar tooth sign and additional skeletal abnormalities. As a parallel study, 346 probands with a phenotype consistent with JS or related ciliopathies underwent nextgeneration sequencing-based targeted sequencing of 120 previously described and candidate ciliopathy genes. RESULTS: We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. No obvious correlation is evident between the type or location of identified mutations and the ciliopathy phenotype. CONCLUSION: Our findings broaden the spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes. The lack of clear genotype-phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/60023959" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="9002dd947ef7a89c1b387acd7407fa8e" rel="nofollow" data-download="{"attachment_id":73652197,"asset_id":60023959,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/73652197/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="41575488" href="https://independent.academia.edu/JoachimVanKeirsbilck">Joachim Van Keirsbilck</a><script data-card-contents-for-user="41575488" type="text/json">{"id":41575488,"first_name":"Joachim Van","last_name":"Keirsbilck","domain_name":"independent","page_name":"JoachimVanKeirsbilck","display_name":"Joachim Van Keirsbilck","profile_url":"https://independent.academia.edu/JoachimVanKeirsbilck?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_60023959 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="60023959"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 60023959, container: ".js-paper-rank-work_60023959", }); 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In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene. METHODS: Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses. Moreover, exome sequencing was performed in one fetus with tectocerebellar dysraphia with occipital encephalocele (TCDOE), molar tooth sign and additional skeletal abnormalities. As a parallel study, 346 probands with a phenotype consistent with JS or related ciliopathies underwent nextgeneration sequencing-based targeted sequencing of 120 previously described and candidate ciliopathy genes. RESULTS: We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. No obvious correlation is evident between the type or location of identified mutations and the ciliopathy phenotype. CONCLUSION: Our findings broaden the spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes. The lack of clear genotype-phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies.","downloadable_attachments":[{"id":73652197,"asset_id":60023959,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":41575488,"first_name":"Joachim Van","last_name":"Keirsbilck","domain_name":"independent","page_name":"JoachimVanKeirsbilck","display_name":"Joachim Van Keirsbilck","profile_url":"https://independent.academia.edu/JoachimVanKeirsbilck?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=2568","nofollow":true},{"id":65615,"name":"Cerebellum","url":"https://www.academia.edu/Documents/in/Cerebellum?f_ri=2568","nofollow":true},{"id":73153,"name":"Genetic Testing","url":"https://www.academia.edu/Documents/in/Genetic_Testing?f_ri=2568"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=2568"},{"id":95573,"name":"Ciliopathies","url":"https://www.academia.edu/Documents/in/Ciliopathies?f_ri=2568"},{"id":117200,"name":"Retina","url":"https://www.academia.edu/Documents/in/Retina?f_ri=2568"},{"id":125069,"name":"Genetic Association 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Onset","url":"https://www.academia.edu/Documents/in/Age_of_Onset?f_ri=2568"},{"id":2036633,"name":"Medical","url":"https://www.academia.edu/Documents/in/Medical?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_22682803" data-work_id="22682803" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/22682803/GENDER_DETERMINATION_BY_PANTOMOGRAPHIC_OPG_ANALYSIS_OF_MENTAL_FORAMEN_IN_NORTH_GUJARAT_POPULATION_A_RETROSPECTIVE_STUDY">GENDER DETERMINATION BY PANTOMOGRAPHIC (OPG) ANALYSIS OF MENTAL FORAMEN IN NORTH GUJARAT POPULATION-A RETROSPECTIVE STUDY</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Aim-To determine the gender using mental foramen as landmark on a panoramic radiographs in selected North Gujarat population. Objective-1. To evaluate and compare the superior border of mental foramen to lower border of mandible(S-L) and... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_22682803" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Aim-To determine the gender using mental foramen as landmark on a panoramic radiographs in selected North Gujarat population. Objective-1. To evaluate and compare the superior border of mental foramen to lower border of mandible(S-L) and inferior border of mental foramen to lower border of mandible(I-L) value in males and females bilaterally. 2. To compare the S-L and I-L between right and left side in males and female 3. To utilize above measurements for gender determination. Materials and Method-Sixty panoramic radiographs were selected for the analysis of mental foramen. Tangents were drawn through the superior and inferior borders of the foramen (S-L and I-L respectively) and perpendicular from the tangents to the lower border of the mandible bilaterally. Digital verniar caliper was used for the distance measurement from S-L and I-L. The data obtained was tabulated and subjected to statistical analysis. Result-The analyzed data of study showed that the mean values of comparison of S-L as well as I-L in males and females were significantly higher in males as compared to females. The comparison of SL and IL on right and left side in the same patient was without any significant difference. Conclusion-The results of present study concluded a definite sexual dimorphism in the position of the mental foramen from the base of the mandible; this method can applied in mass disaster where the fragments of mandible are available.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/22682803" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="7f9f6652769ff07bf24fdf7f76cfcc1e" rel="nofollow" data-download="{"attachment_id":43263564,"asset_id":22682803,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/43263564/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="26851064" href="https://medrech.academia.edu/MedicoResearchChronicles">Medico Research Chronicles</a><script data-card-contents-for-user="26851064" type="text/json">{"id":26851064,"first_name":"Medico Research","last_name":"Chronicles","domain_name":"medrech","page_name":"MedicoResearchChronicles","display_name":"Medico Research Chronicles","profile_url":"https://medrech.academia.edu/MedicoResearchChronicles?f_ri=2568","photo":"https://0.academia-photos.com/26851064/7502193/8427224/s65_editor.medico_research_chronicles.jpg_oh_9195156c625a0bf65d5ebd8f79aa8ab2_oe_55944373___gda___1435262284_bc392f6b218a56d1bbf954e5f12c00c3"}</script></span></span></li><li class="js-paper-rank-work_22682803 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="22682803"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 22682803, container: ".js-paper-rank-work_22682803", }); 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Objective-1. To evaluate and compare the superior border of mental foramen to lower border of mandible(S-L) and inferior border of mental foramen to lower border of mandible(I-L) value in males and females bilaterally. 2. To compare the S-L and I-L between right and left side in males and female 3. To utilize above measurements for gender determination. Materials and Method-Sixty panoramic radiographs were selected for the analysis of mental foramen. Tangents were drawn through the superior and inferior borders of the foramen (S-L and I-L respectively) and perpendicular from the tangents to the lower border of the mandible bilaterally. Digital verniar caliper was used for the distance measurement from S-L and I-L. The data obtained was tabulated and subjected to statistical analysis. Result-The analyzed data of study showed that the mean values of comparison of S-L as well as I-L in males and females were significantly higher in males as compared to females. The comparison of SL and IL on right and left side in the same patient was without any significant difference. Conclusion-The results of present study concluded a definite sexual dimorphism in the position of the mental foramen from the base of the mandible; this method can applied in mass disaster where the fragments of mandible are available.","downloadable_attachments":[{"id":43263564,"asset_id":22682803,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":26851064,"first_name":"Medico Research","last_name":"Chronicles","domain_name":"medrech","page_name":"MedicoResearchChronicles","display_name":"Medico Research Chronicles","profile_url":"https://medrech.academia.edu/MedicoResearchChronicles?f_ri=2568","photo":"https://0.academia-photos.com/26851064/7502193/8427224/s65_editor.medico_research_chronicles.jpg_oh_9195156c625a0bf65d5ebd8f79aa8ab2_oe_55944373___gda___1435262284_bc392f6b218a56d1bbf954e5f12c00c3"}],"research_interests":[{"id":200,"name":"Medical 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WHO statistics shows that about 500 thousands women have died of complications related to pregnancy or during childbirth... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_72676455" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Background: Postpartum hemorrhage is the most common cause of mortality in women with vaginal or cesarean delivery. WHO statistics shows that about 500 thousands women have died of complications related to pregnancy or during childbirth in 2013. haemorrhage probability is the main reason to order blood requests in delivery and cesarean units. The purpose of this study is to evaluate the ratio of cross-matched to transfused blood in pregnant women during one year before and after the implementation of health reform program. Materials and Methods: In this retrospective descriptive study, the requests of blood reserves for pregnant patients with the gravid of 34±7 weeks and the age of 30±16 years old in two periods, before and after the implementation of health reform program were being collected and compared. Blood group antiserums and anti-human globulins with bovine albumins were purchased from LORN company and Baharafshan Company respectively. Results: The total number of requests ...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/72676455" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="6bfcdedfc32f774675fa3462a0fb1fa5" rel="nofollow" data-download="{"attachment_id":81510629,"asset_id":72676455,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/81510629/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="61553260" href="https://independent.academia.edu/masoomehsamadishams">masoomeh samadi shams</a><script data-card-contents-for-user="61553260" type="text/json">{"id":61553260,"first_name":"masoomeh","last_name":"samadi shams","domain_name":"independent","page_name":"masoomehsamadishams","display_name":"masoomeh samadi shams","profile_url":"https://independent.academia.edu/masoomehsamadishams?f_ri=2568","photo":"https://0.academia-photos.com/61553260/28190531/26400109/s65_masoomeh.samadi_shams.jpg"}</script></span></span></li><li class="js-paper-rank-work_72676455 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="72676455"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 72676455, container: ".js-paper-rank-work_72676455", }); 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$(".js-view-count[data-work-id=72676455]").text(description); $(".js-view-count-work_72676455").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_72676455").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="72676455"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">10</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="8089" rel="nofollow" href="https://www.academia.edu/Documents/in/Virology">Virology</a>, <script data-card-contents-for-ri="8089" type="text/json">{"id":8089,"name":"Virology","url":"https://www.academia.edu/Documents/in/Virology?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="26327" rel="nofollow" href="https://www.academia.edu/Documents/in/Medicine">Medicine</a>, <script data-card-contents-for-ri="26327" type="text/json">{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="52409" rel="nofollow" href="https://www.academia.edu/Documents/in/Cancer_Genetics">Cancer Genetics</a><script data-card-contents-for-ri="52409" type="text/json">{"id":52409,"name":"Cancer Genetics","url":"https://www.academia.edu/Documents/in/Cancer_Genetics?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=72676455]'), work: {"id":72676455,"title":"Assessment of the ratio of cross-matched to transfused blood amounts in pregnant patients in Alzahra Hospital in Tabriz before and after the implementation of the health reform program in 2013-2015","created_at":"2022-03-01T05:09:07.260-08:00","url":"https://www.academia.edu/72676455/Assessment_of_the_ratio_of_cross_matched_to_transfused_blood_amounts_in_pregnant_patients_in_Alzahra_Hospital_in_Tabriz_before_and_after_the_implementation_of_the_health_reform_program_in_2013_2015?f_ri=2568","dom_id":"work_72676455","summary":"Background: Postpartum hemorrhage is the most common cause of mortality in women with vaginal or cesarean delivery. WHO statistics shows that about 500 thousands women have died of complications related to pregnancy or during childbirth in 2013. haemorrhage probability is the main reason to order blood requests in delivery and cesarean units. The purpose of this study is to evaluate the ratio of cross-matched to transfused blood in pregnant women during one year before and after the implementation of health reform program. Materials and Methods: In this retrospective descriptive study, the requests of blood reserves for pregnant patients with the gravid of 34±7 weeks and the age of 30±16 years old in two periods, before and after the implementation of health reform program were being collected and compared. Blood group antiserums and anti-human globulins with bovine albumins were purchased from LORN company and Baharafshan Company respectively. Results: The total number of requests ...","downloadable_attachments":[{"id":81510629,"asset_id":72676455,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":61553260,"first_name":"masoomeh","last_name":"samadi shams","domain_name":"independent","page_name":"masoomehsamadishams","display_name":"masoomeh samadi shams","profile_url":"https://independent.academia.edu/masoomehsamadishams?f_ri=2568","photo":"https://0.academia-photos.com/61553260/28190531/26400109/s65_masoomeh.samadi_shams.jpg"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":8089,"name":"Virology","url":"https://www.academia.edu/Documents/in/Virology?f_ri=2568","nofollow":true},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=2568","nofollow":true},{"id":52409,"name":"Cancer Genetics","url":"https://www.academia.edu/Documents/in/Cancer_Genetics?f_ri=2568","nofollow":true},{"id":70125,"name":"CRISPR","url":"https://www.academia.edu/Documents/in/CRISPR?f_ri=2568"},{"id":103973,"name":"Medical Laboratory","url":"https://www.academia.edu/Documents/in/Medical_Laboratory?f_ri=2568"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility?f_ri=2568"},{"id":269637,"name":"Medical Laboratory Sciences","url":"https://www.academia.edu/Documents/in/Medical_Laboratory_Sciences?f_ri=2568"},{"id":609703,"name":"FTO gene","url":"https://www.academia.edu/Documents/in/FTO_gene?f_ri=2568"},{"id":999436,"name":"Female Infertility","url":"https://www.academia.edu/Documents/in/Female_Infertility?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_22217449" data-work_id="22217449" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/22217449/Familial_cylindromatosis_mimicking_tuberous_sclerosis_complex_and_confirmation_of_the_cylindromatosis_locus_CYLD1_in_a_large_family">Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest">A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion.</div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/22217449" 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Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="47884" rel="nofollow" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a>, <script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="49228" rel="nofollow" href="https://www.academia.edu/Documents/in/Mental_Retardation">Mental Retardation</a>, <script data-card-contents-for-ri="49228" type="text/json">{"id":49228,"name":"Mental Retardation","url":"https://www.academia.edu/Documents/in/Mental_Retardation?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="86952" rel="nofollow" href="https://www.academia.edu/Documents/in/Haplotypes">Haplotypes</a><script data-card-contents-for-ri="86952" type="text/json">{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=22217449]'), work: {"id":22217449,"title":"Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family","created_at":"2016-02-20T06:16:57.131-08:00","url":"https://www.academia.edu/22217449/Familial_cylindromatosis_mimicking_tuberous_sclerosis_complex_and_confirmation_of_the_cylindromatosis_locus_CYLD1_in_a_large_family?f_ri=2568","dom_id":"work_22217449","summary":"A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion.","downloadable_attachments":[{"id":42870455,"asset_id":22217449,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":32695210,"first_name":"Dick","last_name":"Lindhout","domain_name":"independent","page_name":"DickLindhout","display_name":"Dick Lindhout","profile_url":"https://independent.academia.edu/DickLindhout?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true},{"id":49228,"name":"Mental Retardation","url":"https://www.academia.edu/Documents/in/Mental_Retardation?f_ri=2568","nofollow":true},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes?f_ri=2568","nofollow":true},{"id":135603,"name":"DNA analysis","url":"https://www.academia.edu/Documents/in/DNA_analysis?f_ri=2568"},{"id":162159,"name":"Differential Diagnosis","url":"https://www.academia.edu/Documents/in/Differential_Diagnosis?f_ri=2568"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree?f_ri=2568"},{"id":224794,"name":"Genetic linkage analysis","url":"https://www.academia.edu/Documents/in/Genetic_linkage_analysis?f_ri=2568"},{"id":441692,"name":"Tuberous sclerosis","url":"https://www.academia.edu/Documents/in/Tuberous_sclerosis?f_ri=2568"},{"id":963748,"name":"Adenoma","url":"https://www.academia.edu/Documents/in/Adenoma?f_ri=2568"},{"id":1445140,"name":"Linkage Analysis","url":"https://www.academia.edu/Documents/in/Linkage_Analysis?f_ri=2568"},{"id":2177223,"name":"Skin Neoplasms","url":"https://www.academia.edu/Documents/in/Skin_Neoplasms?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_1596131" data-work_id="1596131" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/1596131/Theory_of_population_genetics_and_evolutionary_ecology">Theory of population genetics and evolutionary ecology</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/1596131" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="a7c77a5d1178e5bcc0936a2d1a7d5a11" rel="nofollow" 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work: {"id":1596131,"title":"Theory of population genetics and evolutionary ecology","created_at":"2012-05-27T13:41:33.402-07:00","url":"https://www.academia.edu/1596131/Theory_of_population_genetics_and_evolutionary_ecology?f_ri=2568","dom_id":"work_1596131","summary":null,"downloadable_attachments":[{"id":50912648,"asset_id":1596131,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":1832896,"first_name":"Joan","last_name":"Roughgarden","domain_name":"hawaii","page_name":"JoanRoughgarden","display_name":"Joan Roughgarden","profile_url":"https://hawaii.academia.edu/JoanRoughgarden?f_ri=2568","photo":"https://0.academia-photos.com/1832896/18111017/18103923/s65_joan.roughgarden.jpg"}],"research_interests":[{"id":146,"name":"Bioinformatics","url":"https://www.academia.edu/Documents/in/Bioinformatics?f_ri=2568","nofollow":true},{"id":155,"name":"Evolutionary 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u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_29650272" data-work_id="29650272" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/29650272/Studying_the_epigenome_using_next_generation_sequencing">Studying the epigenome using next generation sequencing</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">The advances in next generation sequencing (NGS) technologies have had a significant impact on epigenomic research. The arrival of NGS technologies has enabled a more powerful sequencing based methoddthat is, ChIP-Seqdto interrogate whole... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_29650272" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">The advances in next generation sequencing (NGS) technologies have had a significant impact on epigenomic research. The arrival of NGS technologies has enabled a more powerful sequencing based methoddthat is, ChIP-Seqdto interrogate whole genome histone modifications, improving on the conventional microarray based method (ChIP-chip). Similarly, the first human DNA methylome was mapped using NGS technologies. More importantly, studies of DNA methylation and histone modification using NGS technologies have yielded new discoveries and improved our knowledge of human biology and diseases. The concept that cytosine methylation was restricted to CpG dinucleotides has only been recently challenged by new data generated from sequencing the DNA methylome. Approximately 25% of all cytosine methylation identified in stem cells was in a non-CG context. The non-CG methylation was more enriched in gene bodies and depleted in protein binding sites and enhancers. The recent developments of third generation sequencing technologies have shown promising results of directly sequencing methylated nucleotides and having the ability to differentiate between 5-methylcytosine and 5-hydroxymethylcytosine. The importance of 5-hydroxymethylcytosine remains largely unknown, but it has been found in various tissues. 5-hydroxymethylcytosine was particularly enriched at promoters and in intragenic regions (gene bodies) but was largely absent from non-gene regions in DNA from human brain frontal lobe tissue. The presence of 5-hydroxymethylcytosine in gene bodies was more positively correlated with gene expression levels. The importance of studying 5-methylcytosine and 5-hydroxymethylcytosine separately for their biological roles will become clearer when more efficient methods to distinguish them are available.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/29650272" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="b9114e160d1d92b9e81e7af31bc72d5b" rel="nofollow" data-download="{"attachment_id":50086048,"asset_id":29650272,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/50086048/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="56082436" href="https://independent.academia.edu/NasheenNaidoo">Nasheen Naidoo</a><script data-card-contents-for-user="56082436" type="text/json">{"id":56082436,"first_name":"Nasheen","last_name":"Naidoo","domain_name":"independent","page_name":"NasheenNaidoo","display_name":"Nasheen Naidoo","profile_url":"https://independent.academia.edu/NasheenNaidoo?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_29650272 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="29650272"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 29650272, container: ".js-paper-rank-work_29650272", }); 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$(".js-view-count[data-work-id=29650272]").text(description); $(".js-view-count-work_29650272").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_29650272").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="29650272"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">12</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="19632" rel="nofollow" href="https://www.academia.edu/Documents/in/Molecular_Genetics">Molecular Genetics</a>, <script data-card-contents-for-ri="19632" type="text/json">{"id":19632,"name":"Molecular Genetics","url":"https://www.academia.edu/Documents/in/Molecular_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="27784" rel="nofollow" href="https://www.academia.edu/Documents/in/Gene_expression">Gene expression</a>, <script data-card-contents-for-ri="27784" type="text/json">{"id":27784,"name":"Gene expression","url":"https://www.academia.edu/Documents/in/Gene_expression?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="47884" rel="nofollow" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a><script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=29650272]'), work: {"id":29650272,"title":"Studying the epigenome using next generation sequencing","created_at":"2016-11-03T13:09:35.764-07:00","url":"https://www.academia.edu/29650272/Studying_the_epigenome_using_next_generation_sequencing?f_ri=2568","dom_id":"work_29650272","summary":"The advances in next generation sequencing (NGS) technologies have had a significant impact on epigenomic research. The arrival of NGS technologies has enabled a more powerful sequencing based methoddthat is, ChIP-Seqdto interrogate whole genome histone modifications, improving on the conventional microarray based method (ChIP-chip). Similarly, the first human DNA methylome was mapped using NGS technologies. More importantly, studies of DNA methylation and histone modification using NGS technologies have yielded new discoveries and improved our knowledge of human biology and diseases. The concept that cytosine methylation was restricted to CpG dinucleotides has only been recently challenged by new data generated from sequencing the DNA methylome. Approximately 25% of all cytosine methylation identified in stem cells was in a non-CG context. The non-CG methylation was more enriched in gene bodies and depleted in protein binding sites and enhancers. The recent developments of third generation sequencing technologies have shown promising results of directly sequencing methylated nucleotides and having the ability to differentiate between 5-methylcytosine and 5-hydroxymethylcytosine. The importance of 5-hydroxymethylcytosine remains largely unknown, but it has been found in various tissues. 5-hydroxymethylcytosine was particularly enriched at promoters and in intragenic regions (gene bodies) but was largely absent from non-gene regions in DNA from human brain frontal lobe tissue. The presence of 5-hydroxymethylcytosine in gene bodies was more positively correlated with gene expression levels. The importance of studying 5-methylcytosine and 5-hydroxymethylcytosine separately for their biological roles will become clearer when more efficient methods to distinguish them are available.","downloadable_attachments":[{"id":50086048,"asset_id":29650272,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":56082436,"first_name":"Nasheen","last_name":"Naidoo","domain_name":"independent","page_name":"NasheenNaidoo","display_name":"Nasheen Naidoo","profile_url":"https://independent.academia.edu/NasheenNaidoo?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":19632,"name":"Molecular Genetics","url":"https://www.academia.edu/Documents/in/Molecular_Genetics?f_ri=2568","nofollow":true},{"id":27784,"name":"Gene expression","url":"https://www.academia.edu/Documents/in/Gene_expression?f_ri=2568","nofollow":true},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568","nofollow":true},{"id":48057,"name":"DNA","url":"https://www.academia.edu/Documents/in/DNA?f_ri=2568"},{"id":49066,"name":"Epigenomics","url":"https://www.academia.edu/Documents/in/Epigenomics?f_ri=2568"},{"id":84760,"name":"Mice","url":"https://www.academia.edu/Documents/in/Mice?f_ri=2568"},{"id":121665,"name":"DNA methylation","url":"https://www.academia.edu/Documents/in/DNA_methylation?f_ri=2568"},{"id":176486,"name":"Genome","url":"https://www.academia.edu/Documents/in/Genome?f_ri=2568"},{"id":317185,"name":"Histones","url":"https://www.academia.edu/Documents/in/Histones?f_ri=2568"},{"id":547589,"name":"Quantitative Trait Loci","url":"https://www.academia.edu/Documents/in/Quantitative_Trait_Loci?f_ri=2568"},{"id":1981817,"name":"5-Methylcytosine","url":"https://www.academia.edu/Documents/in/5-Methylcytosine?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_48358111" data-work_id="48358111" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/48358111/Down_Syndrome_The_Facts">Down Syndrome: The Facts</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Book reviews lod scores. Both texts make useful suggestions for further reading, and set problems at the end of each chapter. I was disappointed, however, that little attention was paid to dysmorphology as a component of clinical genetics... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_48358111" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Book reviews lod scores. Both texts make useful suggestions for further reading, and set problems at the end of each chapter. I was disappointed, however, that little attention was paid to dysmorphology as a component of clinical genetics in either volume, and nor was there a systematic discussion of the potential complications of genetic disorders, and how they may sometimes be avoided.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/48358111" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="0e819c5045ee8b1a64da339d0cae6187" rel="nofollow" data-download="{"attachment_id":67013217,"asset_id":48358111,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/67013217/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="448052" href="https://independent.academia.edu/MarkSelikowitz">Mark Selikowitz</a><script data-card-contents-for-user="448052" type="text/json">{"id":448052,"first_name":"Mark","last_name":"Selikowitz","domain_name":"independent","page_name":"MarkSelikowitz","display_name":"Mark Selikowitz","profile_url":"https://independent.academia.edu/MarkSelikowitz?f_ri=2568","photo":"https://0.academia-photos.com/448052/145326/168825/s65_mark.selikowitz.jpg"}</script></span></span></li><li class="js-paper-rank-work_48358111 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="48358111"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 48358111, container: ".js-paper-rank-work_48358111", }); });</script></li><li class="js-percentile-work_48358111 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 48358111; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_48358111"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_48358111 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="48358111"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 48358111; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=48358111]").text(description); $(".js-view-count-work_48358111").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_48358111").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="48358111"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">8</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="146" rel="nofollow" href="https://www.academia.edu/Documents/in/Bioinformatics">Bioinformatics</a>, <script data-card-contents-for-ri="146" type="text/json">{"id":146,"name":"Bioinformatics","url":"https://www.academia.edu/Documents/in/Bioinformatics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="221" rel="nofollow" href="https://www.academia.edu/Documents/in/Psychology">Psychology</a>, <script data-card-contents-for-ri="221" type="text/json">{"id":221,"name":"Psychology","url":"https://www.academia.edu/Documents/in/Psychology?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="237" rel="nofollow" href="https://www.academia.edu/Documents/in/Cognitive_Science">Cognitive Science</a>, <script data-card-contents-for-ri="237" type="text/json">{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a><script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=48358111]'), work: {"id":48358111,"title":"Down Syndrome: The Facts","created_at":"2021-05-04T15:11:16.547-07:00","url":"https://www.academia.edu/48358111/Down_Syndrome_The_Facts?f_ri=2568","dom_id":"work_48358111","summary":"Book reviews lod scores. Both texts make useful suggestions for further reading, and set problems at the end of each chapter. I was disappointed, however, that little attention was paid to dysmorphology as a component of clinical genetics in either volume, and nor was there a systematic discussion of the potential complications of genetic disorders, and how they may sometimes be avoided.","downloadable_attachments":[{"id":67013217,"asset_id":48358111,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":448052,"first_name":"Mark","last_name":"Selikowitz","domain_name":"independent","page_name":"MarkSelikowitz","display_name":"Mark Selikowitz","profile_url":"https://independent.academia.edu/MarkSelikowitz?f_ri=2568","photo":"https://0.academia-photos.com/448052/145326/168825/s65_mark.selikowitz.jpg"}],"research_interests":[{"id":146,"name":"Bioinformatics","url":"https://www.academia.edu/Documents/in/Bioinformatics?f_ri=2568","nofollow":true},{"id":221,"name":"Psychology","url":"https://www.academia.edu/Documents/in/Psychology?f_ri=2568","nofollow":true},{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":8014,"name":"Life Sciences","url":"https://www.academia.edu/Documents/in/Life_Sciences?f_ri=2568"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=2568"},{"id":66744,"name":"Biomedical Research","url":"https://www.academia.edu/Documents/in/Biomedical_Research?f_ri=2568"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_52523617" data-work_id="52523617" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/52523617/Patients_with_Ehlers_Danlos_syndrome_on_the_diagnostic_odyssey_Rethinking_complexity_and_difficulty_as_a_heros_journey">Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Patients with hypermobile Ehlers-Danlos syndrome, an hereditary disorder of the connective tissue, often face a long and difficult diagnostic odyssey in pursuit of a name for their condition. Clinicians may dismiss subjective symptoms of... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_52523617" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Patients with hypermobile Ehlers-Danlos syndrome, an hereditary disorder of the connective tissue, often face a long and difficult diagnostic odyssey in pursuit of a name for their condition. Clinicians may dismiss subjective symptoms of chronic pain, thus prolonging patients' odysseys and worsening their care and satisfaction and creating antagonisms in the patient-provider relationship. A greater understanding of patient experiences is necessary in order to decrease burdens of this relationship and to improve care. To that end, we conducted 22 in-depth, semistructured interviews with individuals who had undergone this diagnostic odyssey. We focused on the impact that the odyssey had on their lives, both inside and outside the clinic. Through</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/52523617" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="32c49f7dd0faee5eb0911aa24ab88954" rel="nofollow" data-download="{"attachment_id":69751825,"asset_id":52523617,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/69751825/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="1707815" href="https://indiana.academia.edu/ColinHalverson">Colin Halverson</a><script data-card-contents-for-user="1707815" type="text/json">{"id":1707815,"first_name":"Colin","last_name":"Halverson","domain_name":"indiana","page_name":"ColinHalverson","display_name":"Colin Halverson","profile_url":"https://indiana.academia.edu/ColinHalverson?f_ri=2568","photo":"https://0.academia-photos.com/1707815/19938916/19738705/s65_colin.halverson.jpg"}</script></span></span></li><li class="js-paper-rank-work_52523617 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="52523617"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 52523617, container: ".js-paper-rank-work_52523617", }); });</script></li><li class="js-percentile-work_52523617 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 52523617; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_52523617"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_52523617 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="52523617"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 52523617; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=52523617]").text(description); $(".js-view-count-work_52523617").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_52523617").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="52523617"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">11</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="1414" rel="nofollow" href="https://www.academia.edu/Documents/in/Bioethics">Bioethics</a>, <script data-card-contents-for-ri="1414" type="text/json">{"id":1414,"name":"Bioethics","url":"https://www.academia.edu/Documents/in/Bioethics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="4442" rel="nofollow" href="https://www.academia.edu/Documents/in/Narrative_Medicine">Narrative Medicine</a>, <script data-card-contents-for-ri="4442" type="text/json">{"id":4442,"name":"Narrative Medicine","url":"https://www.academia.edu/Documents/in/Narrative_Medicine?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="22379" rel="nofollow" href="https://www.academia.edu/Documents/in/Rare_diseases">Rare diseases</a><script data-card-contents-for-ri="22379" type="text/json">{"id":22379,"name":"Rare diseases","url":"https://www.academia.edu/Documents/in/Rare_diseases?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=52523617]'), work: {"id":52523617,"title":"Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey","created_at":"2021-09-16T09:41:29.025-07:00","url":"https://www.academia.edu/52523617/Patients_with_Ehlers_Danlos_syndrome_on_the_diagnostic_odyssey_Rethinking_complexity_and_difficulty_as_a_heros_journey?f_ri=2568","dom_id":"work_52523617","summary":"Patients with hypermobile Ehlers-Danlos syndrome, an hereditary disorder of the connective tissue, often face a long and difficult diagnostic odyssey in pursuit of a name for their condition. Clinicians may dismiss subjective symptoms of chronic pain, thus prolonging patients' odysseys and worsening their care and satisfaction and creating antagonisms in the patient-provider relationship. A greater understanding of patient experiences is necessary in order to decrease burdens of this relationship and to improve care. To that end, we conducted 22 in-depth, semistructured interviews with individuals who had undergone this diagnostic odyssey. We focused on the impact that the odyssey had on their lives, both inside and outside the clinic. Through","downloadable_attachments":[{"id":69751825,"asset_id":52523617,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":1707815,"first_name":"Colin","last_name":"Halverson","domain_name":"indiana","page_name":"ColinHalverson","display_name":"Colin Halverson","profile_url":"https://indiana.academia.edu/ColinHalverson?f_ri=2568","photo":"https://0.academia-photos.com/1707815/19938916/19738705/s65_colin.halverson.jpg"}],"research_interests":[{"id":1414,"name":"Bioethics","url":"https://www.academia.edu/Documents/in/Bioethics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":4442,"name":"Narrative Medicine","url":"https://www.academia.edu/Documents/in/Narrative_Medicine?f_ri=2568","nofollow":true},{"id":22379,"name":"Rare diseases","url":"https://www.academia.edu/Documents/in/Rare_diseases?f_ri=2568","nofollow":true},{"id":446717,"name":"Patient Care","url":"https://www.academia.edu/Documents/in/Patient_Care?f_ri=2568"},{"id":479864,"name":"Ehlers-Danlos Syndrome","url":"https://www.academia.edu/Documents/in/Ehlers-Danlos_Syndrome?f_ri=2568"},{"id":479875,"name":"Ehlers-Danlos Syndrome, Hypermobility Type","url":"https://www.academia.edu/Documents/in/Ehlers-Danlos_Syndrome_Hypermobility_Type?f_ri=2568"},{"id":769760,"name":"Hero's Journey","url":"https://www.academia.edu/Documents/in/Heros_Journey?f_ri=2568"},{"id":1421698,"name":"Diagnostic Odyssey","url":"https://www.academia.edu/Documents/in/Diagnostic_Odyssey?f_ri=2568"},{"id":1497878,"name":"Invisible Illness","url":"https://www.academia.edu/Documents/in/Invisible_Illness?f_ri=2568"},{"id":1602083,"name":"Compassionate Care","url":"https://www.academia.edu/Documents/in/Compassionate_Care?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_26774162 coauthored" data-work_id="26774162" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/26774162/U_S_Genetics_Nurses_in_Advanced_Practice">U.S. Genetics Nurses in Advanced Practice</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Purpose: To describe characteristics and professional roles of genetics nurses in advanced practice. Design: A cross-sectional descriptive survey administered in 2004 as one component of a comprehensive study of genetic services and the... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_26774162" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Purpose: To describe characteristics and professional roles of genetics nurses in advanced practice. Design: A cross-sectional descriptive survey administered in 2004 as one component of a comprehensive study of genetic services and the health workforce. The sample was 211 U.S. members of the International Society of Nurses in Genetics. Methods: The survey included demographic characteristics, education, credentials, professional roles, and attitudes about genetic healthcare issues. Findings: The majority of respondents had master's degrees and many had earned doctorates in nursing (20%) or other fields (12%). Thirty-one percent were certified as nurse practitioners; 57% provided direct patient care, with the largest percentage working in genetics (26%) or oncology (22%) settings. Over one-third were educators and 19% conducted genome-related research. Conclusions: Genetics nurses in advanced practice in the US focus on both genomic discoveries and clinical health care through the application of genomic knowledge into health care, research, and nursing education.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/26774162" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="b97cdc610f8910e8a9402709b117f74b" rel="nofollow" data-download="{"attachment_id":47052108,"asset_id":26774162,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/47052108/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="50773442" href="https://independent.academia.edu/ForteGaetano">Gaetano Forte</a><script data-card-contents-for-user="50773442" type="text/json">{"id":50773442,"first_name":"Gaetano","last_name":"Forte","domain_name":"independent","page_name":"ForteGaetano","display_name":"Gaetano Forte","profile_url":"https://independent.academia.edu/ForteGaetano?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-26774162">+1</span><div class="hidden js-additional-users-26774162"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/DaleLea">Dale Lea</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-26774162'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-26774162').html(); } } new HoverPopover(popoverSettings); })();</script></li><li class="js-paper-rank-work_26774162 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="26774162"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 26774162, container: ".js-paper-rank-work_26774162", }); });</script></li><li class="js-percentile-work_26774162 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 26774162; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_26774162"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_26774162 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="26774162"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 26774162; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=26774162]").text(description); $(".js-view-count-work_26774162").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_26774162").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="26774162"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">14</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="156" rel="nofollow" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="588" rel="nofollow" href="https://www.academia.edu/Documents/in/Nursing">Nursing</a>, <script data-card-contents-for-ri="588" type="text/json">{"id":588,"name":"Nursing","url":"https://www.academia.edu/Documents/in/Nursing?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="19870" rel="nofollow" href="https://www.academia.edu/Documents/in/Research">Research</a><script data-card-contents-for-ri="19870" type="text/json">{"id":19870,"name":"Research","url":"https://www.academia.edu/Documents/in/Research?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=26774162]'), work: {"id":26774162,"title":"U.S. Genetics Nurses in Advanced Practice","created_at":"2016-07-06T05:36:33.930-07:00","url":"https://www.academia.edu/26774162/U_S_Genetics_Nurses_in_Advanced_Practice?f_ri=2568","dom_id":"work_26774162","summary":"Purpose: To describe characteristics and professional roles of genetics nurses in advanced practice. Design: A cross-sectional descriptive survey administered in 2004 as one component of a comprehensive study of genetic services and the health workforce. The sample was 211 U.S. members of the International Society of Nurses in Genetics. Methods: The survey included demographic characteristics, education, credentials, professional roles, and attitudes about genetic healthcare issues. Findings: The majority of respondents had master's degrees and many had earned doctorates in nursing (20%) or other fields (12%). Thirty-one percent were certified as nurse practitioners; 57% provided direct patient care, with the largest percentage working in genetics (26%) or oncology (22%) settings. Over one-third were educators and 19% conducted genome-related research. Conclusions: Genetics nurses in advanced practice in the US focus on both genomic discoveries and clinical health care through the application of genomic knowledge into health care, research, and nursing education.","downloadable_attachments":[{"id":47052108,"asset_id":26774162,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":50773442,"first_name":"Gaetano","last_name":"Forte","domain_name":"independent","page_name":"ForteGaetano","display_name":"Gaetano Forte","profile_url":"https://independent.academia.edu/ForteGaetano?f_ri=2568","photo":"/images/s65_no_pic.png"},{"id":50878680,"first_name":"Dale","last_name":"Lea","domain_name":"independent","page_name":"DaleLea","display_name":"Dale Lea","profile_url":"https://independent.academia.edu/DaleLea?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":588,"name":"Nursing","url":"https://www.academia.edu/Documents/in/Nursing?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":19870,"name":"Research","url":"https://www.academia.edu/Documents/in/Research?f_ri=2568","nofollow":true},{"id":24625,"name":"Employment","url":"https://www.academia.edu/Documents/in/Employment?f_ri=2568"},{"id":98134,"name":"United States","url":"https://www.academia.edu/Documents/in/United_States?f_ri=2568"},{"id":101565,"name":"Oncology Nursing","url":"https://www.academia.edu/Documents/in/Oncology_Nursing?f_ri=2568"},{"id":305410,"name":"Nurse Practitioners","url":"https://www.academia.edu/Documents/in/Nurse_Practitioners?f_ri=2568"},{"id":327850,"name":"Questionnaires","url":"https://www.academia.edu/Documents/in/Questionnaires?f_ri=2568"},{"id":336324,"name":"Professional Autonomy","url":"https://www.academia.edu/Documents/in/Professional_Autonomy?f_ri=2568"},{"id":353644,"name":"Certification","url":"https://www.academia.edu/Documents/in/Certification?f_ri=2568"},{"id":1034181,"name":"Cross Sectional Studies","url":"https://www.academia.edu/Documents/in/Cross_Sectional_Studies?f_ri=2568"},{"id":1303154,"name":"Nursing scholarship","url":"https://www.academia.edu/Documents/in/Nursing_scholarship?f_ri=2568"},{"id":2003087,"name":"Advanced Practice Nurses","url":"https://www.academia.edu/Documents/in/Advanced_Practice_Nurses?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_11962473" data-work_id="11962473" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/11962473/Systemic_Administration_of_%CE%B3_Hydroxybutyric_Acid_in_Adolescent_Rat_Impairs_Contextual_Fear_Conditioning_But_Not_Cued_Conditioning">Systemic Administration of γ-Hydroxybutyric Acid in Adolescent Rat Impairs Contextual Fear Conditioning, But Not Cued Conditioning</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">γ-hydroxybutyric acid (GHB) causes retrograde amnesia in juveniles and young adults. Earlier, we have reported that in adolescent rat, GHB impairs the hidden platform task performance in the Morris water maze. In the present study, a... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_11962473" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">γ-hydroxybutyric acid (GHB) causes retrograde amnesia in juveniles and young adults. Earlier, we have reported that in adolescent rat, GHB impairs the hidden platform task performance in the Morris water maze. In the present study, a classical fear conditioning paradigm was used to examine the effects of GHB on the acquisition of contextual conditioning, a hippocampus-dependent associative task, and cued tone conditioning, a hippocampus-independent task, in adolescent rats. Administration of GHB before the presentation of tone-shock pairings dose-dependently disrupted the acquisition of contextual conditioning with no effect on tone conditioning, when conditioned fear was measured 24 h later. Administering GHB prior to testing did not disrupt either contextual or tone conditioning. These results demonstrate that in the adolescent rat exposure to GHB preferentially disrupt hippocampal-dependent learning.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/11962473" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="aafde6c822152f123a8545dea0453f07" rel="nofollow" data-download="{"attachment_id":46421156,"asset_id":11962473,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/46421156/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="29678037" href="https://aecom-yu.academia.edu/KeitaIshiwari">Keita Ishiwari</a><script data-card-contents-for-user="29678037" type="text/json">{"id":29678037,"first_name":"Keita","last_name":"Ishiwari","domain_name":"aecom-yu","page_name":"KeitaIshiwari","display_name":"Keita Ishiwari","profile_url":"https://aecom-yu.academia.edu/KeitaIshiwari?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_11962473 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="11962473"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 11962473, container: ".js-paper-rank-work_11962473", }); 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Earlier, we have reported that in adolescent rat, GHB impairs the hidden platform task performance in the Morris water maze. In the present study, a classical fear conditioning paradigm was used to examine the effects of GHB on the acquisition of contextual conditioning, a hippocampus-dependent associative task, and cued tone conditioning, a hippocampus-independent task, in adolescent rats. Administration of GHB before the presentation of tone-shock pairings dose-dependently disrupted the acquisition of contextual conditioning with no effect on tone conditioning, when conditioned fear was measured 24 h later. Administering GHB prior to testing did not disrupt either contextual or tone conditioning. 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class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/51182657/COVID_A_New_Journal_to_Affirm_the_Role_of_Science_between_Communication_and_Social_Responsibility">COVID, A New Journal to Affirm the Role of Science between Communication and Social Responsibility</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">The purpose of a new scientific journal is not only to make new knowledge known, but also to stimulate its use for the benefit of all sectors of society. In a delicate intertwining of social balances, in a stormy sea where every voice... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_51182657" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">The purpose of a new scientific journal is not only to make new knowledge known, but also to stimulate its use for the benefit of all sectors of society. In a delicate intertwining of social balances, in a stormy sea where every voice generates a wave, the bar must be kept straight. Science does not have to be scary, but ignorance must.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/51182657" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="04fccac1b709e6410ca9196346e540b5" rel="nofollow" data-download="{"attachment_id":69011861,"asset_id":51182657,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/69011861/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="42669399" href="https://mondodomani.academia.edu/GiuseppeNovelli">Giuseppe Novelli</a><script data-card-contents-for-user="42669399" type="text/json">{"id":42669399,"first_name":"Giuseppe","last_name":"Novelli","domain_name":"mondodomani","page_name":"GiuseppeNovelli","display_name":"Giuseppe Novelli","profile_url":"https://mondodomani.academia.edu/GiuseppeNovelli?f_ri=2568","photo":"https://0.academia-photos.com/42669399/15296646/15955482/s65_giuseppe.novelli.jpg"}</script></span></span></li><li class="js-paper-rank-work_51182657 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="51182657"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 51182657, container: ".js-paper-rank-work_51182657", }); });</script></li><li class="js-percentile-work_51182657 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 51182657; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_51182657"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_51182657 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="51182657"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 51182657; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=51182657]").text(description); $(".js-view-count-work_51182657").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_51182657").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="51182657"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">3</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="1290" rel="nofollow" href="https://www.academia.edu/Documents/in/Immunology">Immunology</a>, <script data-card-contents-for-ri="1290" type="text/json">{"id":1290,"name":"Immunology","url":"https://www.academia.edu/Documents/in/Immunology?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="419784" rel="nofollow" href="https://www.academia.edu/Documents/in/Virologia">Virologia</a><script data-card-contents-for-ri="419784" type="text/json">{"id":419784,"name":"Virologia","url":"https://www.academia.edu/Documents/in/Virologia?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=51182657]'), work: {"id":51182657,"title":"COVID, A New Journal to Affirm the Role of Science between Communication and Social Responsibility","created_at":"2021-09-03T02:24:22.356-07:00","url":"https://www.academia.edu/51182657/COVID_A_New_Journal_to_Affirm_the_Role_of_Science_between_Communication_and_Social_Responsibility?f_ri=2568","dom_id":"work_51182657","summary":"The purpose of a new scientific journal is not only to make new knowledge known, but also to stimulate its use for the benefit of all sectors of society. In a delicate intertwining of social balances, in a stormy sea where every voice generates a wave, the bar must be kept straight. Science does not have to be scary, but ignorance must.","downloadable_attachments":[{"id":69011861,"asset_id":51182657,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":42669399,"first_name":"Giuseppe","last_name":"Novelli","domain_name":"mondodomani","page_name":"GiuseppeNovelli","display_name":"Giuseppe Novelli","profile_url":"https://mondodomani.academia.edu/GiuseppeNovelli?f_ri=2568","photo":"https://0.academia-photos.com/42669399/15296646/15955482/s65_giuseppe.novelli.jpg"}],"research_interests":[{"id":1290,"name":"Immunology","url":"https://www.academia.edu/Documents/in/Immunology?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":419784,"name":"Virologia","url":"https://www.academia.edu/Documents/in/Virologia?f_ri=2568","nofollow":true}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_28004043" data-work_id="28004043" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/28004043/Genetics_and_Recent_Human_Evolution">Genetics and Recent Human Evolution</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Starting with "mitochondrial Eve" in 1987, genetics has played an increasingly important role in studies of the last two million years of human evolution. It initially appeared that genetic data resolved the basic models of recent human... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_28004043" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Starting with "mitochondrial Eve" in 1987, genetics has played an increasingly important role in studies of the last two million years of human evolution. It initially appeared that genetic data resolved the basic models of recent human evolution in favor of the "out-of-Africa replacement" hypothesis in which anatomically modern humans evolved in Africa about 150,000 years ago, started to spread throughout the world about 100,000 years ago, and subsequently drove to complete genetic extinction (replacement) all other human populations in Eurasia. Unfortunately, many of the genetic studies on recent human evolution have suffered from scientific flaws, including misrepresenting the models of recent human evolution, focusing upon hypothesis compatibility rather than hypothesis testing, committing the ecological fallacy, and failing to consider a broader array of alternative hypotheses. Once these flaws are corrected, there is actually little genetic support for the out-of-Africa replacement hypothesis. Indeed, when genetic data are used in a hypothesis-testing framework, the out-of-Africa replacement hypothesis is strongly rejected. The model of recent human evolution that emerges from a statistical hypothesis-testing framework does not correspond to any of the traditional models of human evolution, but it is compatible with fossil and archaeological data. These studies also reveal that any one gene or DNA region captures only a small part of human evolutionary history, so multilocus studies are essential. As more and more loci became available, genetics will undoubtedly offer additional insights and resolutions of human evolution.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/28004043" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="d61650c919baba2421de7120d1f570f0" rel="nofollow" data-download="{"attachment_id":48310905,"asset_id":28004043,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/48310905/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="32815866" href="https://wustl.academia.edu/AlanTempleton">Alan Templeton</a><script data-card-contents-for-user="32815866" type="text/json">{"id":32815866,"first_name":"Alan","last_name":"Templeton","domain_name":"wustl","page_name":"AlanTempleton","display_name":"Alan Templeton","profile_url":"https://wustl.academia.edu/AlanTempleton?f_ri=2568","photo":"https://0.academia-photos.com/32815866/14396599/15312690/s65_alan.templeton.jpg"}</script></span></span></li><li class="js-paper-rank-work_28004043 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="28004043"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 28004043, container: ".js-paper-rank-work_28004043", }); });</script></li><li class="js-percentile-work_28004043 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 28004043; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_28004043"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_28004043 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="28004043"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 28004043; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=28004043]").text(description); $(".js-view-count-work_28004043").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_28004043").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="28004043"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">11</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="155" rel="nofollow" href="https://www.academia.edu/Documents/in/Evolutionary_Biology">Evolutionary Biology</a>, <script data-card-contents-for-ri="155" type="text/json">{"id":155,"name":"Evolutionary Biology","url":"https://www.academia.edu/Documents/in/Evolutionary_Biology?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="156" rel="nofollow" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="772" rel="nofollow" href="https://www.academia.edu/Documents/in/Human_Evolution">Human Evolution</a>, <script data-card-contents-for-ri="772" type="text/json">{"id":772,"name":"Human Evolution","url":"https://www.academia.edu/Documents/in/Human_Evolution?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a><script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=28004043]'), work: {"id":28004043,"title":"Genetics and Recent Human Evolution","created_at":"2016-08-25T10:23:29.809-07:00","url":"https://www.academia.edu/28004043/Genetics_and_Recent_Human_Evolution?f_ri=2568","dom_id":"work_28004043","summary":"Starting with \"mitochondrial Eve\" in 1987, genetics has played an increasingly important role in studies of the last two million years of human evolution. It initially appeared that genetic data resolved the basic models of recent human evolution in favor of the \"out-of-Africa replacement\" hypothesis in which anatomically modern humans evolved in Africa about 150,000 years ago, started to spread throughout the world about 100,000 years ago, and subsequently drove to complete genetic extinction (replacement) all other human populations in Eurasia. Unfortunately, many of the genetic studies on recent human evolution have suffered from scientific flaws, including misrepresenting the models of recent human evolution, focusing upon hypothesis compatibility rather than hypothesis testing, committing the ecological fallacy, and failing to consider a broader array of alternative hypotheses. Once these flaws are corrected, there is actually little genetic support for the out-of-Africa replacement hypothesis. Indeed, when genetic data are used in a hypothesis-testing framework, the out-of-Africa replacement hypothesis is strongly rejected. The model of recent human evolution that emerges from a statistical hypothesis-testing framework does not correspond to any of the traditional models of human evolution, but it is compatible with fossil and archaeological data. These studies also reveal that any one gene or DNA region captures only a small part of human evolutionary history, so multilocus studies are essential. As more and more loci became available, genetics will undoubtedly offer additional insights and resolutions of human evolution.","downloadable_attachments":[{"id":48310905,"asset_id":28004043,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":32815866,"first_name":"Alan","last_name":"Templeton","domain_name":"wustl","page_name":"AlanTempleton","display_name":"Alan Templeton","profile_url":"https://wustl.academia.edu/AlanTempleton?f_ri=2568","photo":"https://0.academia-photos.com/32815866/14396599/15312690/s65_alan.templeton.jpg"}],"research_interests":[{"id":155,"name":"Evolutionary Biology","url":"https://www.academia.edu/Documents/in/Evolutionary_Biology?f_ri=2568","nofollow":true},{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":772,"name":"Human Evolution","url":"https://www.academia.edu/Documents/in/Human_Evolution?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":4206,"name":"Phylogeography","url":"https://www.academia.edu/Documents/in/Phylogeography?f_ri=2568"},{"id":10882,"name":"Evolution","url":"https://www.academia.edu/Documents/in/Evolution?f_ri=2568"},{"id":54433,"name":"Phylogeny","url":"https://www.academia.edu/Documents/in/Phylogeny?f_ri=2568"},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes?f_ri=2568"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree?f_ri=2568"},{"id":191815,"name":"Biological evolution","url":"https://www.academia.edu/Documents/in/Biological_evolution?f_ri=2568"},{"id":836296,"name":"Mitochondrial Eve","url":"https://www.academia.edu/Documents/in/Mitochondrial_Eve?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_25709933" data-work_id="25709933" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/25709933/International_HapMap_Consortium_2005_A_haplotype_map_of_the_human_genome_Nature_437_1299_1320">International HapMap Consortium (2005), “A haplotype map of the human genome”, Nature 437: 1299-1320.</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">A haplotype map of the human genome The International HapMap Consortium* Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_25709933" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">A haplotype map of the human genome The International HapMap Consortium* Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/25709933" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="e9045e05c3711d8a55c6d527756f6d66" rel="nofollow" data-download="{"attachment_id":46056742,"asset_id":25709933,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/46056742/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="221621" href="https://ausn.academia.edu/DarrylMacer">Darryl R Macer</a><script data-card-contents-for-user="221621" type="text/json">{"id":221621,"first_name":"Darryl","last_name":"Macer","domain_name":"ausn","page_name":"DarrylMacer","display_name":"Darryl R Macer","profile_url":"https://ausn.academia.edu/DarrylMacer?f_ri=2568","photo":"https://0.academia-photos.com/221621/7847797/8793112/s65_darryl.macer.jpg_oh_f09967e5b2c07cd2bc48f613ed8b56aa_oe_55796960___gda___1438260655_a3d3c3296ce02492d328ce59eee78076"}</script></span></span></li><li class="js-paper-rank-work_25709933 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="25709933"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 25709933, container: ".js-paper-rank-work_25709933", }); 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$(".js-view-count[data-work-id=25709933]").text(description); $(".js-view-count-work_25709933").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_25709933").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="25709933"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">6</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="156" rel="nofollow" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="1414" rel="nofollow" href="https://www.academia.edu/Documents/in/Bioethics">Bioethics</a>, <script data-card-contents-for-ri="1414" type="text/json">{"id":1414,"name":"Bioethics","url":"https://www.academia.edu/Documents/in/Bioethics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" rel="nofollow" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a>, <script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true}</script><a class="InlineList-item-text" data-has-card-for-ri="3216" rel="nofollow" href="https://www.academia.edu/Documents/in/Genomics">Genomics</a><script data-card-contents-for-ri="3216" type="text/json">{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=2568","nofollow":true}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=25709933]'), work: {"id":25709933,"title":"International HapMap Consortium (2005), “A haplotype map of the human genome”, Nature 437: 1299-1320.","created_at":"2016-05-29T21:03:21.427-07:00","url":"https://www.academia.edu/25709933/International_HapMap_Consortium_2005_A_haplotype_map_of_the_human_genome_Nature_437_1299_1320?f_ri=2568","dom_id":"work_25709933","summary":"A haplotype map of the human genome The International HapMap Consortium* Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.","downloadable_attachments":[{"id":46056742,"asset_id":25709933,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":221621,"first_name":"Darryl","last_name":"Macer","domain_name":"ausn","page_name":"DarrylMacer","display_name":"Darryl R Macer","profile_url":"https://ausn.academia.edu/DarrylMacer?f_ri=2568","photo":"https://0.academia-photos.com/221621/7847797/8793112/s65_darryl.macer.jpg_oh_f09967e5b2c07cd2bc48f613ed8b56aa_oe_55796960___gda___1438260655_a3d3c3296ce02492d328ce59eee78076"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":1414,"name":"Bioethics","url":"https://www.academia.edu/Documents/in/Bioethics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=2568","nofollow":true},{"id":17158,"name":"Japan","url":"https://www.academia.edu/Documents/in/Japan?f_ri=2568"},{"id":320574,"name":"HapMap","url":"https://www.academia.edu/Documents/in/HapMap?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_17624715" data-work_id="17624715" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/17624715/The_medical_genetics_workforce_An_analysis_of_clinical_geneticist_subgroups">The medical genetics workforce: An analysis of clinical geneticist subgroups</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Purpose: Clinical geneticists with a Doctor of Medicine degree face challenges to meet the growing population demand for genetic services. This study was designed to assist the profession with workforce planning by identifying clinically... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_17624715" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Purpose: Clinical geneticists with a Doctor of Medicine degree face challenges to meet the growing population demand for genetic services. This study was designed to assist the profession with workforce planning by identifying clinically relevant subgroups of geneticists and describing their professional characteristics and clinical practices. Geneticists' patient care productivity is compared across subgroups and other medical specialists. Methods: Part of a comprehensive national study of genetic services and the health workforce, this study uses data from a 2003 survey of geneticists certified by the American Board of Medical Genetics. This study includes 610 clinical geneticists who spend at least 5% of their time in direct patient-care services. An iterative approach was used to identify five subgroups based on the types of new patients seen. We conducted a descriptive analysis of subgroups by demographic, training, professional, and practice characteristics. Results: The subgroups include general (36%), pediatric (28%), reproductive (15%), metabolic (14%), and adult (7%) geneticists. Clinically relevant variations across subgroups were noted in training, professional, and practice parameters. Subgroups vary across patient care hours (median, 15-33 hours/week) and total weekly work hours (52-60 hours). New patient visits (mean, 222-900/year) are higher than follow-up patient visits (mean, 155-405) for all subgroups except metabolic geneticists. Conclusion: Although many geneticists practice as generalist geneticists, this study provides an evidence base for distinguishing clinically relevant subgroups of geneticists. Geneticists provide similar numbers of new patient visits and far fewer follow-up visits than other medical specialists. These findings are relevant to geneticist workforce planning. Genet Med 2006:8(10):603-614.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/17624715" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="52e84c4d74c155729cc6f6ce97dbfadb" rel="nofollow" data-download="{"attachment_id":39620907,"asset_id":17624715,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/39620907/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="37484975" href="https://independent.academia.edu/JudithBenkendorf">Judith Benkendorf</a><script data-card-contents-for-user="37484975" type="text/json">{"id":37484975,"first_name":"Judith","last_name":"Benkendorf","domain_name":"independent","page_name":"JudithBenkendorf","display_name":"Judith Benkendorf","profile_url":"https://independent.academia.edu/JudithBenkendorf?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_17624715 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="17624715"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 17624715, container: ".js-paper-rank-work_17624715", }); 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This study was designed to assist the profession with workforce planning by identifying clinically relevant subgroups of geneticists and describing their professional characteristics and clinical practices. Geneticists' patient care productivity is compared across subgroups and other medical specialists. Methods: Part of a comprehensive national study of genetic services and the health workforce, this study uses data from a 2003 survey of geneticists certified by the American Board of Medical Genetics. This study includes 610 clinical geneticists who spend at least 5% of their time in direct patient-care services. An iterative approach was used to identify five subgroups based on the types of new patients seen. We conducted a descriptive analysis of subgroups by demographic, training, professional, and practice characteristics. Results: The subgroups include general (36%), pediatric (28%), reproductive (15%), metabolic (14%), and adult (7%) geneticists. Clinically relevant variations across subgroups were noted in training, professional, and practice parameters. Subgroups vary across patient care hours (median, 15-33 hours/week) and total weekly work hours (52-60 hours). New patient visits (mean, 222-900/year) are higher than follow-up patient visits (mean, 155-405) for all subgroups except metabolic geneticists. Conclusion: Although many geneticists practice as generalist geneticists, this study provides an evidence base for distinguishing clinically relevant subgroups of geneticists. Geneticists provide similar numbers of new patient visits and far fewer follow-up visits than other medical specialists. These findings are relevant to geneticist workforce planning. Genet Med 2006:8(10):603-614.","downloadable_attachments":[{"id":39620907,"asset_id":17624715,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":37484975,"first_name":"Judith","last_name":"Benkendorf","domain_name":"independent","page_name":"JudithBenkendorf","display_name":"Judith Benkendorf","profile_url":"https://independent.academia.edu/JudithBenkendorf?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":58569,"name":"Continuing Medical Education","url":"https://www.academia.edu/Documents/in/Continuing_Medical_Education?f_ri=2568","nofollow":true},{"id":112822,"name":"Physicians","url":"https://www.academia.edu/Documents/in/Physicians?f_ri=2568","nofollow":true},{"id":153168,"name":"Data Collection","url":"https://www.academia.edu/Documents/in/Data_Collection?f_ri=2568"},{"id":219927,"name":"Efficiency","url":"https://www.academia.edu/Documents/in/Efficiency?f_ri=2568"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=2568"},{"id":446717,"name":"Patient Care","url":"https://www.academia.edu/Documents/in/Patient_Care?f_ri=2568"},{"id":839247,"name":"Genetic Services","url":"https://www.academia.edu/Documents/in/Genetic_Services?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_353788" data-work_id="353788" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/353788/The_Science_of_Human_Perfection">The Science of Human Perfection</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/353788" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="e7fb3e73979a6f41f7bd5606892baad2" rel="nofollow" data-download="{"attachment_id":11525491,"asset_id":353788,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/11525491/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="271623" href="https://johnshopkins.academia.edu/NathanielComfort">Nathaniel Comfort</a><script data-card-contents-for-user="271623" type="text/json">{"id":271623,"first_name":"Nathaniel","last_name":"Comfort","domain_name":"johnshopkins","page_name":"NathanielComfort","display_name":"Nathaniel Comfort","profile_url":"https://johnshopkins.academia.edu/NathanielComfort?f_ri=2568","photo":"https://0.academia-photos.com/271623/66625/996117/s65_nathaniel.comfort.jpg"}</script></span></span></li><li class="js-paper-rank-work_353788 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="353788"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 353788, container: ".js-paper-rank-work_353788", }); 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Many parasites flourish only in the presence of very specific human behaviors and in specific... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_21853502" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Our understanding of human evolutionary and population history can be advanced by ecological and evolutionary studies of our parasites. Many parasites flourish only in the presence of very specific human behaviors and in specific habitats, are wholly dependent on us, and have evolved with us for thousands or millions of years. Therefore, by asking when and how we first acquired those parasites, under which environmental and cultural conditions we are the most susceptible, and how the parasites have evolved and adapted to us and we in response to them, we can gain considerable insight into our own evolutionary history. As examples, the tapeworm life cycle is dependent on our consumption of meat, the divergence of body and head lice may have been subsequent to the development of clothing, and malaria hyperendemicity may be associated with agriculture. Thus, the evolutionary and population histories of these parasites are likely intertwined with critical aspects of human biology and cu...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/21853502" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="3965b700fc01ad3aafcfe4b00af8c9b8" rel="nofollow" data-download="{"attachment_id":42597348,"asset_id":21853502,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/42597348/download_file?st=MTczOTkxMzIwNSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="33346" href="https://utsa.academia.edu/GeorgePerry">George Perry</a><script data-card-contents-for-user="33346" type="text/json">{"id":33346,"first_name":"George","last_name":"Perry","domain_name":"utsa","page_name":"GeorgePerry","display_name":"George Perry","profile_url":"https://utsa.academia.edu/GeorgePerry?f_ri=2568","photo":"https://0.academia-photos.com/33346/79273/127429599/s65_george.perry.jpg"}</script></span></span></li><li class="js-paper-rank-work_21853502 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="21853502"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 21853502, container: ".js-paper-rank-work_21853502", }); 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Many parasites flourish only in the presence of very specific human behaviors and in specific habitats, are wholly dependent on us, and have evolved with us for thousands or millions of years. Therefore, by asking when and how we first acquired those parasites, under which environmental and cultural conditions we are the most susceptible, and how the parasites have evolved and adapted to us and we in response to them, we can gain considerable insight into our own evolutionary history. As examples, the tapeworm life cycle is dependent on our consumption of meat, the divergence of body and head lice may have been subsequent to the development of clothing, and malaria hyperendemicity may be associated with agriculture. Thus, the evolutionary and population histories of these parasites are likely intertwined with critical aspects of human biology and cu...","downloadable_attachments":[{"id":42597348,"asset_id":21853502,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":33346,"first_name":"George","last_name":"Perry","domain_name":"utsa","page_name":"GeorgePerry","display_name":"George Perry","profile_url":"https://utsa.academia.edu/GeorgePerry?f_ri=2568","photo":"https://0.academia-photos.com/33346/79273/127429599/s65_george.perry.jpg"}],"research_interests":[{"id":155,"name":"Evolutionary Biology","url":"https://www.academia.edu/Documents/in/Evolutionary_Biology?f_ri=2568","nofollow":true},{"id":392,"name":"Archaeology","url":"https://www.academia.edu/Documents/in/Archaeology?f_ri=2568","nofollow":true},{"id":767,"name":"Anthropology","url":"https://www.academia.edu/Documents/in/Anthropology?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical 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{"id":19386365,"title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","created_at":"2015-12-02T17:22:55.224-08:00","url":"https://www.academia.edu/19386365/Guidelines_for_the_diagnosis_and_management_of_individuals_with_neurofibromatosis_1?f_ri=2568","dom_id":"work_19386365","summary":null,"downloadable_attachments":[{"id":40591261,"asset_id":19386365,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":39650949,"first_name":"Michael","last_name":"Gleson","domain_name":"independent","page_name":"MichaelGleson","display_name":"Michael Gleson","profile_url":"https://independent.academia.edu/MichaelGleson?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":40593,"name":"British medical 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PALATE PATIENTS WITH A SYSTEMATIC APPROACH</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Downloaded from <a href="http://www.medrech.com" rel="nofollow">www.medrech.com</a> " Rehabilitation of cleft lip and palate patients with a systematic approach " Sherawat Abstract: The oral rehabilitation of lip and palate patients is challenging and many of these patients are suffer if... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_22683858" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Downloaded from <a href="http://www.medrech.com" rel="nofollow">www.medrech.com</a> " Rehabilitation of cleft lip and palate patients with a systematic approach " Sherawat Abstract: The oral rehabilitation of lip and palate patients is challenging and many of these patients are suffer if they don't receive sufficient dental treatment. Several techniques, including orthodontic appliances, surgeries, advanced prosthodontic rehabilitation and alveolar bone grafts have been proposed for the oral rehabilitation of these patients. There are still some difficulties in prosthetic rehabilitation of cleft lip and palate patients with conventional prostheses or implant retained prostheses because of insufficient alveolar bone quality and quantity, inadequate soft tissue, and abutment teeth. This paper is an attempt to review the systematic approach in management of cleft lip and palate patients.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/22683858" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="d6c47f038ad63a306bd5d6a82a7db2e6" rel="nofollow" data-download="{"attachment_id":43264144,"asset_id":22683858,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/43264144/download_file?st=MTczOTkxMzIwNiw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="26851064" href="https://medrech.academia.edu/MedicoResearchChronicles">Medico Research Chronicles</a><script data-card-contents-for-user="26851064" type="text/json">{"id":26851064,"first_name":"Medico Research","last_name":"Chronicles","domain_name":"medrech","page_name":"MedicoResearchChronicles","display_name":"Medico Research Chronicles","profile_url":"https://medrech.academia.edu/MedicoResearchChronicles?f_ri=2568","photo":"https://0.academia-photos.com/26851064/7502193/8427224/s65_editor.medico_research_chronicles.jpg_oh_9195156c625a0bf65d5ebd8f79aa8ab2_oe_55944373___gda___1435262284_bc392f6b218a56d1bbf954e5f12c00c3"}</script></span></span></li><li class="js-paper-rank-work_22683858 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="22683858"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 22683858, container: ".js-paper-rank-work_22683858", }); 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malformation","url":"https://www.academia.edu/Documents/in/Congenital_malformation?f_ri=2568"},{"id":1225171,"name":"Syndrome","url":"https://www.academia.edu/Documents/in/Syndrome?f_ri=2568"},{"id":2036633,"name":"Medical","url":"https://www.academia.edu/Documents/in/Medical?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_28397831" data-work_id="28397831" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/28397831/Mendelian_disorders_deserve_more_attention">Mendelian disorders deserve more attention</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_28397831" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away from monogenic diseases, which collectively affect only a small fraction of the world&#39;s population, towards multifactorial, common diseases. The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/28397831" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="5b91bce565ce5e355882488275f01723" rel="nofollow" data-download="{"attachment_id":48735686,"asset_id":28397831,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/48735686/download_file?st=MTczOTkxMzIwNiw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="32474543" href="https://independent.academia.edu/StylianosAntonarakis">Stylianos Antonarakis</a><script data-card-contents-for-user="32474543" type="text/json">{"id":32474543,"first_name":"Stylianos","last_name":"Antonarakis","domain_name":"independent","page_name":"StylianosAntonarakis","display_name":"Stylianos Antonarakis","profile_url":"https://independent.academia.edu/StylianosAntonarakis?f_ri=2568","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_28397831 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="28397831"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 28397831, container: ".js-paper-rank-work_28397831", }); 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But interest has gradually shifted away from monogenic diseases, which collectively affect only a small fraction of the world\u0026#39;s population, towards multifactorial, common diseases. The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits.","downloadable_attachments":[{"id":48735686,"asset_id":28397831,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":32474543,"first_name":"Stylianos","last_name":"Antonarakis","domain_name":"independent","page_name":"StylianosAntonarakis","display_name":"Stylianos Antonarakis","profile_url":"https://independent.academia.edu/StylianosAntonarakis?f_ri=2568","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=2568","nofollow":true},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=2568","nofollow":true},{"id":4338,"name":"Gene regulation","url":"https://www.academia.edu/Documents/in/Gene_regulation?f_ri=2568","nofollow":true},{"id":84760,"name":"Mice","url":"https://www.academia.edu/Documents/in/Mice?f_ri=2568","nofollow":true},{"id":1002732,"name":"Genetic Variability","url":"https://www.academia.edu/Documents/in/Genetic_Variability?f_ri=2568"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_17811210" data-work_id="17811210" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/17811210/A_polymorphic_DNA_marker_genetically_linked_to_Huntingtons_disease">A polymorphic DNA marker genetically linked to Huntington's disease</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Family studies show that the Huntington&amp;#39;s disease gene is linked to a polymorphic DNA marker that maps to human chromosome 4. The chromosomal localization of the Huntington&amp;#39;s disease gene is the first step in using... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_17811210" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Family studies show that the Huntington&amp;#39;s disease gene is linked to a polymorphic DNA marker that maps to human chromosome 4. 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