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<meta name="keywords" content="C3150677, autism 16, autism susceptibility 16, autism with or without seizures, autism, susceptibility to, 16, autism, susceptibility to, type 16, auts16, finding, slc9a9, susceptibility to autism 16, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Impaired intellectual development (IDD) coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which IDD is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of heterogeneity of autism, see 209850." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=462027
|
||
ConceptID=C3150677
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autism, susceptibility to, 16<span class="h1sub">(AUTS16)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462027</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3150677</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Autism 16; Autism susceptibility 16; AUTISM WITH OR WITHOUT SEIZURES</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SLC9A9 - ID: 285195 - NCBI Gene" href="/gene/285195" class="medgenPMinfo">SLC9A9</a> (3q24)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013258" target="_blank">MONDO:0013258</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613410" target="_blank">613410</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Impaired intellectual development (IDD) coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which IDD is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of heterogeneity of autism, see 209850. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38568605">Susceptibility to Treatment-Resistant Depression Within Families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng CM,
|
||
Chen MH,
|
||
Tsai SJ,
|
||
Chang WH,
|
||
Tsai CF,
|
||
Lin WC,
|
||
Bai YM,
|
||
Su TP,
|
||
Chen TJ,
|
||
Li CT</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2024 Jul 1;81(7):663-672.
|
||
doi: 10.1001/jamapsychiatry.2024.0378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38568605" target="_blank">38568605</a><a href="/pmc/articles/PMC10993159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34363551">Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trakadis Y,
|
||
Accogli A,
|
||
Qi B,
|
||
Bloom D,
|
||
Joober R,
|
||
Levy E,
|
||
Tabbane K</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2021 Oct;22(4):313-322.
|
||
Epub 2021 Aug 7
|
||
doi: 10.1007/s10048-021-00664-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34363551" target="_blank">34363551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27755291">Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaik Mohammad N,
|
||
Sai Shruti P,
|
||
Bharathi V,
|
||
Krishna Prasad C,
|
||
Hussain T,
|
||
Alrokayan SA,
|
||
Naik U,
|
||
Radha Rama Devi A</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Genet</span>
|
||
2016 Dec;26(6):281-286.
|
||
doi: 10.1097/YPG.0000000000000152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27755291" target="_blank">27755291</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autism%2C%20susceptibility%20to%2C%2016)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35110736">Autism genes converge on asynchronous development of shared neuron classes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paulsen B,
|
||
Velasco S,
|
||
Kedaigle AJ,
|
||
Pigoni M,
|
||
Quadrato G,
|
||
Deo AJ,
|
||
Adiconis X,
|
||
Uzquiano A,
|
||
Sartore R,
|
||
Yang SM,
|
||
Simmons SK,
|
||
Symvoulidis P,
|
||
Kim K,
|
||
Tsafou K,
|
||
Podury A,
|
||
Abbate C,
|
||
Tucewicz A,
|
||
Smith SN,
|
||
Albanese A,
|
||
Barrett L,
|
||
Sanjana NE,
|
||
Shi X,
|
||
Chung K,
|
||
Lage K,
|
||
Boyden ES,
|
||
Regev A,
|
||
Levin JZ,
|
||
Arlotta P</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2022 Feb;602(7896):268-273.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1038/s41586-021-04358-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35110736" target="_blank">35110736</a><a href="/pmc/articles/PMC8852827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33004838">Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang T,
|
||
Hoekzema K,
|
||
Vecchio D,
|
||
Wu H,
|
||
Sulovari A,
|
||
Coe BP,
|
||
Gillentine MA,
|
||
Wilfert AB,
|
||
Perez-Jurado LA,
|
||
Kvarnung M,
|
||
Sleyp Y,
|
||
Earl RK,
|
||
Rosenfeld JA,
|
||
Geisheker MR,
|
||
Han L,
|
||
Du B,
|
||
Barnett C,
|
||
Thompson E,
|
||
Shaw M,
|
||
Carroll R,
|
||
Friend K,
|
||
Catford R,
|
||
Palmer EE,
|
||
Zou X,
|
||
Ou J,
|
||
Li H,
|
||
Guo H,
|
||
Gerdts J,
|
||
Avola E,
|
||
Calabrese G,
|
||
Elia M,
|
||
Greco D,
|
||
Lindstrand A,
|
||
Nordgren A,
|
||
Anderlid BM,
|
||
Vandeweyer G,
|
||
Van Dijck A,
|
||
Van der Aa N,
|
||
McKenna B,
|
||
Hancarova M,
|
||
Bendova S,
|
||
Havlovicova M,
|
||
Malerba G,
|
||
Bernardina BD,
|
||
Muglia P,
|
||
van Haeringen A,
|
||
Hoffer MJV,
|
||
Franke B,
|
||
Cappuccio G,
|
||
Delatycki M,
|
||
Lockhart PJ,
|
||
Manning MA,
|
||
Liu P,
|
||
Scheffer IE,
|
||
Brunetti-Pierri N,
|
||
Rommelse N,
|
||
Amaral DG,
|
||
Santen GWE,
|
||
Trabetti E,
|
||
Sedláček Z,
|
||
Michaelson JJ,
|
||
Pierce K,
|
||
Courchesne E,
|
||
Kooy RF;
|
||
SPARK Consortium,
|
||
Nordenskjöld M,
|
||
Romano C,
|
||
Peeters H,
|
||
Bernier RA,
|
||
Gecz J,
|
||
Xia K,
|
||
Eichler EE</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2020 Oct 1;11(1):4932.
|
||
doi: 10.1038/s41467-020-18723-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33004838" target="_blank">33004838</a><a href="/pmc/articles/PMC7530681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32374377">Etiology of Autism Spectrum Disorders and Autistic Traits Over Time.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor MJ,
|
||
Rosenqvist MA,
|
||
Larsson H,
|
||
Gillberg C,
|
||
D'Onofrio BM,
|
||
Lichtenstein P,
|
||
Lundström S</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2020 Sep 1;77(9):936-943.
|
||
doi: 10.1001/jamapsychiatry.2020.0680.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32374377" target="_blank">32374377</a><a href="/pmc/articles/PMC7203675" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31314057">Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bai D,
|
||
Yip BHK,
|
||
Windham GC,
|
||
Sourander A,
|
||
Francis R,
|
||
Yoffe R,
|
||
Glasson E,
|
||
Mahjani B,
|
||
Suominen A,
|
||
Leonard H,
|
||
Gissler M,
|
||
Buxbaum JD,
|
||
Wong K,
|
||
Schendel D,
|
||
Kodesh A,
|
||
Breshnahan M,
|
||
Levine SZ,
|
||
Parner ET,
|
||
Hansen SN,
|
||
Hultman C,
|
||
Reichenberg A,
|
||
Sandin S</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2019 Oct 1;76(10):1035-1043.
|
||
doi: 10.1001/jamapsychiatry.2019.1411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31314057" target="_blank">31314057</a><a href="/pmc/articles/PMC6646998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22914163">Rate of de novo mutations and the importance of father's age to disease risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong A,
|
||
Frigge ML,
|
||
Masson G,
|
||
Besenbacher S,
|
||
Sulem P,
|
||
Magnusson G,
|
||
Gudjonsson SA,
|
||
Sigurdsson A,
|
||
Jonasdottir A,
|
||
Jonasdottir A,
|
||
Wong WS,
|
||
Sigurdsson G,
|
||
Walters GB,
|
||
Steinberg S,
|
||
Helgason H,
|
||
Thorleifsson G,
|
||
Gudbjartsson DF,
|
||
Helgason A,
|
||
Magnusson OT,
|
||
Thorsteinsdottir U,
|
||
Stefansson K</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2012 Aug 23;488(7412):471-5.
|
||
doi: 10.1038/nature11396.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22914163" target="_blank">22914163</a><a href="/pmc/articles/PMC3548427" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2016%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (178)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38568605">Susceptibility to Treatment-Resistant Depression Within Families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng CM,
|
||
Chen MH,
|
||
Tsai SJ,
|
||
Chang WH,
|
||
Tsai CF,
|
||
Lin WC,
|
||
Bai YM,
|
||
Su TP,
|
||
Chen TJ,
|
||
Li CT</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2024 Jul 1;81(7):663-672.
|
||
doi: 10.1001/jamapsychiatry.2024.0378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38568605" target="_blank">38568605</a><a href="/pmc/articles/PMC10993159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32374377">Etiology of Autism Spectrum Disorders and Autistic Traits Over Time.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor MJ,
|
||
Rosenqvist MA,
|
||
Larsson H,
|
||
Gillberg C,
|
||
D'Onofrio BM,
|
||
Lichtenstein P,
|
||
Lundström S</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2020 Sep 1;77(9):936-943.
|
||
doi: 10.1001/jamapsychiatry.2020.0680.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32374377" target="_blank">32374377</a><a href="/pmc/articles/PMC7203675" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31314057">Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bai D,
|
||
Yip BHK,
|
||
Windham GC,
|
||
Sourander A,
|
||
Francis R,
|
||
Yoffe R,
|
||
Glasson E,
|
||
Mahjani B,
|
||
Suominen A,
|
||
Leonard H,
|
||
Gissler M,
|
||
Buxbaum JD,
|
||
Wong K,
|
||
Schendel D,
|
||
Kodesh A,
|
||
Breshnahan M,
|
||
Levine SZ,
|
||
Parner ET,
|
||
Hansen SN,
|
||
Hultman C,
|
||
Reichenberg A,
|
||
Sandin S</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2019 Oct 1;76(10):1035-1043.
|
||
doi: 10.1001/jamapsychiatry.2019.1411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31314057" target="_blank">31314057</a><a href="/pmc/articles/PMC6646998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28540026">Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium</span><br />
|
||
<span class="medgenPMjournal">Mol Autism</span>
|
||
2017;8:21.
|
||
Epub 2017 May 22
|
||
doi: 10.1186/s13229-017-0137-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28540026" target="_blank">28540026</a><a href="/pmc/articles/PMC5441062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21727249">Genetic heritability and shared environmental factors among twin pairs with autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hallmayer J,
|
||
Cleveland S,
|
||
Torres A,
|
||
Phillips J,
|
||
Cohen B,
|
||
Torigoe T,
|
||
Miller J,
|
||
Fedele A,
|
||
Collins J,
|
||
Smith K,
|
||
Lotspeich L,
|
||
Croen LA,
|
||
Ozonoff S,
|
||
Lajonchere C,
|
||
Grether JK,
|
||
Risch N</span><br />
|
||
<span class="medgenPMjournal">Arch Gen Psychiatry</span>
|
||
2011 Nov;68(11):1095-102.
|
||
Epub 2011 Jul 4
|
||
doi: 10.1001/archgenpsychiatry.2011.76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21727249" target="_blank">21727249</a><a href="/pmc/articles/PMC4440679" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2016%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (113)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38568605">Susceptibility to Treatment-Resistant Depression Within Families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng CM,
|
||
Chen MH,
|
||
Tsai SJ,
|
||
Chang WH,
|
||
Tsai CF,
|
||
Lin WC,
|
||
Bai YM,
|
||
Su TP,
|
||
Chen TJ,
|
||
Li CT</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2024 Jul 1;81(7):663-672.
|
||
doi: 10.1001/jamapsychiatry.2024.0378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38568605" target="_blank">38568605</a><a href="/pmc/articles/PMC10993159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34913977">Interaction of Cigarette Smoking and Polygenic Risk Score on Reduced Lung Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim W,
|
||
Moll M,
|
||
Qiao D,
|
||
Hobbs BD,
|
||
Shrine N,
|
||
Sakornsakolpat P,
|
||
Tobin MD,
|
||
Dudbridge F,
|
||
Wain LV,
|
||
Ladd-Acosta C,
|
||
Chatterjee N,
|
||
Silverman EK,
|
||
Cho MH,
|
||
Beaty TH</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2021 Dec 1;4(12):e2139525.
|
||
doi: 10.1001/jamanetworkopen.2021.39525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34913977" target="_blank">34913977</a><a href="/pmc/articles/PMC8678715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28528584">Autism risk following antidepressant medication during pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viktorin A,
|
||
Uher R,
|
||
Reichenberg A,
|
||
Levine SZ,
|
||
Sandin S</span><br />
|
||
<span class="medgenPMjournal">Psychol Med</span>
|
||
2017 Dec;47(16):2787-2796.
|
||
Epub 2017 May 22
|
||
doi: 10.1017/S0033291717001301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28528584" target="_blank">28528584</a><a href="/pmc/articles/PMC6421839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28468926">Atrial Fibrillation Genetic Risk and Ischemic Stroke Mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubitz SA,
|
||
Parsons OE,
|
||
Anderson CD,
|
||
Benjamin EJ,
|
||
Malik R,
|
||
Weng LC,
|
||
Dichgans M,
|
||
Sudlow CL,
|
||
Rothwell PM,
|
||
Rosand J,
|
||
Ellinor PT,
|
||
Markus HS,
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<div class="nl"><a target="_blank" href="/pubmed/22914163">Rate of de novo mutations and the importance of father's age to disease risk.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kong A,
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Frigge ML,
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Masson G,
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Besenbacher S,
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Sulem P,
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Magnusson G,
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Gudjonsson SA,
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Sigurdsson A,
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Jonasdottir A,
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Jonasdottir A,
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Wong WS,
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Sigurdsson G,
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Walters GB,
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Steinberg S,
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Helgason H,
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Thorleifsson G,
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Gudbjartsson DF,
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Helgason A,
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Magnusson OT,
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Thorsteinsdottir U,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2016%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38865470">Discovering the gene-brain-behavior link in autism via generative machine learning.</a></div>
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Sherr EH,
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<div class="nl"><a target="_blank" href="/pubmed/37598788">Comprehensive systematic review and meta-analysis of the association between common genetic variants and autism spectrum disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
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Cui Y,
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Yin Z,
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Hou M,
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Guo P,
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Wang H,
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Liu N,
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Cai C,
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Wang M</span><br />
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2023 Dec 15;887:147723.
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<span class="bold">PMID: </span><a href="/pubmed/37598788" target="_blank">37598788</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32374377">Etiology of Autism Spectrum Disorders and Autistic Traits Over Time.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Taylor MJ,
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Rosenqvist MA,
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Larsson H,
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Gillberg C,
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<div class="nl"><a target="_blank" href="/pubmed/24728418">Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fukuyama M,
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Wang Q,
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Kato K,
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Ohno S,
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Ding WG,
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Toyoda F,
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Itoh H,
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Kimura H,
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Makiyama T,
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Ito M,
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<span class="bold">PMID: </span><a href="/pubmed/24728418" target="_blank">24728418</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23160955">Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Roak BJ,
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Vives L,
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Fu W,
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Egertson JD,
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Stanaway IB,
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Phelps IG,
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Carvill G,
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Kumar A,
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Lee C,
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Ankenman K,
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Munson J,
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Hiatt JB,
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Turner EH,
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Levy R,
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O'Day DR,
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Krumm N,
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Coe BP,
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Martin BK,
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Borenstein E,
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Nickerson DA,
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Mefford HC,
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Doherty D,
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Akey JM,
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Bernier R,
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Eichler EE,
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Shendure J</span><br />
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2012 Dec 21;338(6114):1619-22.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2016%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (42)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39009701">Genetic neurodevelopmental clustering and dyslexia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ciulkinyte A,
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Mountford HS,
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Fontanillas P;
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23andMe Research Team,
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Bates TC,
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Martin NG,
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Fisher SE,
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Luciano M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/39009701" target="_blank">39009701</a><a href="/pmc/articles/PMC11649571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28540026">Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/23160955">Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Roak BJ,
|
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Vives L,
|
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Fu W,
|
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Egertson JD,
|
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Stanaway IB,
|
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Phelps IG,
|
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Carvill G,
|
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Kumar A,
|
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Lee C,
|
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Ankenman K,
|
||
Munson J,
|
||
Hiatt JB,
|
||
Turner EH,
|
||
Levy R,
|
||
O'Day DR,
|
||
Krumm N,
|
||
Coe BP,
|
||
Martin BK,
|
||
Borenstein E,
|
||
Nickerson DA,
|
||
Mefford HC,
|
||
Doherty D,
|
||
Akey JM,
|
||
Bernier R,
|
||
Eichler EE,
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Shendure J</span><br />
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<span class="medgenPMjournal">Science</span>
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2012 Dec 21;338(6114):1619-22.
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Epub 2012 Nov 15
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<span class="bold">PMID: </span><a href="/pubmed/23160955" target="_blank">23160955</a><a href="/pmc/articles/PMC3528801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22914163">Rate of de novo mutations and the importance of father's age to disease risk.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kong A,
|
||
Frigge ML,
|
||
Masson G,
|
||
Besenbacher S,
|
||
Sulem P,
|
||
Magnusson G,
|
||
Gudjonsson SA,
|
||
Sigurdsson A,
|
||
Jonasdottir A,
|
||
Jonasdottir A,
|
||
Wong WS,
|
||
Sigurdsson G,
|
||
Walters GB,
|
||
Steinberg S,
|
||
Helgason H,
|
||
Thorleifsson G,
|
||
Gudbjartsson DF,
|
||
Helgason A,
|
||
Magnusson OT,
|
||
Thorsteinsdottir U,
|
||
Stefansson K</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2012 Aug 23;488(7412):471-5.
|
||
doi: 10.1038/nature11396.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22914163" target="_blank">22914163</a><a href="/pmc/articles/PMC3548427" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21727249">Genetic heritability and shared environmental factors among twin pairs with autism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hallmayer J,
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Cleveland S,
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Torres A,
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Phillips J,
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Cohen B,
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Torigoe T,
|
||
Miller J,
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||
Fedele A,
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Collins J,
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||
Smith K,
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||
Lotspeich L,
|
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Croen LA,
|
||
Ozonoff S,
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Lajonchere C,
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Grether JK,
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Risch N</span><br />
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<span class="medgenPMjournal">Arch Gen Psychiatry</span>
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2011 Nov;68(11):1095-102.
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Epub 2011 Jul 4
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<span class="bold">PMID: </span><a href="/pubmed/21727249" target="_blank">21727249</a><a href="/pmc/articles/PMC4440679" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2016%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (113)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37598788">Comprehensive systematic review and meta-analysis of the association between common genetic variants and autism spectrum disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
||
Cui Y,
|
||
Yin Z,
|
||
Hou M,
|
||
Guo P,
|
||
Wang H,
|
||
Liu N,
|
||
Cai C,
|
||
Wang M</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2023 Dec 15;887:147723.
|
||
Epub 2023 Aug 18
|
||
doi: 10.1016/j.gene.2023.147723.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37598788" target="_blank">37598788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2016%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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|
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</div>
|
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<div class=" bottom">
|
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|
||
</div>
|
||
|
||
</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3150677%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150677%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150677%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150677%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613410" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autism,%20susceptibility%20to,%2016" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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