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<meta name="keywords" content="C1970243, autism 9, autism, susceptibility to, 9, auts9, finding, 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. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).&#13; For a discussion of genetic heterogeneity of autism, see 209850." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=410023
ConceptID=C1970243
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autism, susceptibility to, 9<span class="h1sub">(AUTS9)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410023</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1970243</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 9; AUTS9</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012600" target="_blank">MONDO:0012600</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/611015" target="_blank">611015</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. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).&#13; For a discussion of genetic 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/32472753">Risk factors, diagnosis, prognosis and treatment of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Styles M,
Alsharshani D,
Samara M,
Alsharshani M,
Khattab A,
Qoronfleh MW,
Al-Dewik NI</span><br />
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
2020 Jun 1;25(9):1682-1717.
doi: 10.2741/4873.
<span class="bold">PMID: </span><a href="/pubmed/32472753" target="_blank">32472753</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14534514">Diagnosis and treatment of autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manning-Courtney P,
Brown J,
Molloy CA,
Reinhold J,
Murray D,
Sorensen-Burnworth R,
Messerschmidt T,
Kent B</span><br />
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
2003 Oct;33(9):283-304.
doi: 10.1016/s1538-5442(03)00108-1.
<span class="bold">PMID: </span><a href="/pubmed/14534514" target="_blank">14534514</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autism%2C%20susceptibility%20to%2C%209)%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 (14)</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/36368308">Genomic architecture of autism from comprehensive whole-genome sequence annotation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trost B,
Thiruvahindrapuram B,
Chan AJS,
Engchuan W,
Higginbotham EJ,
Howe JL,
Loureiro LO,
Reuter MS,
Roshandel D,
Whitney J,
Zarrei M,
Bookman M,
Somerville C,
Shaath R,
Abdi M,
Aliyev E,
Patel RV,
Nalpathamkalam T,
Pellecchia G,
Hamdan O,
Kaur G,
Wang Z,
MacDonald JR,
Wei J,
Sung WWL,
Lamoureux S,
Hoang N,
Selvanayagam T,
Deflaux N,
Geng M,
Ghaffari S,
Bates J,
Young EJ,
Ding Q,
Shum C,
D'Abate L,
Bradley CA,
Rutherford A,
Aguda V,
Apresto B,
Chen N,
Desai S,
Du X,
Fong MLY,
Pullenayegum S,
Samler K,
Wang T,
Ho K,
Paton T,
Pereira SL,
Herbrick JA,
Wintle RF,
Fuerth J,
Noppornpitak J,
Ward H,
Magee P,
Al Baz A,
Kajendirarajah U,
Kapadia S,
Vlasblom J,
Valluri M,
Green J,
Seifer V,
Quirbach M,
Rennie O,
Kelley E,
Masjedi N,
Lord C,
Szego MJ,
Zawati MH,
Lang M,
Strug LJ,
Marshall CR,
Costain G,
Calli K,
Iaboni A,
Yusuf A,
Ambrozewicz P,
Gallagher L,
Amaral DG,
Brian J,
Elsabbagh M,
Georgiades S,
Messinger DS,
Ozonoff S,
Sebat J,
Sjaarda C,
Smith IM,
Szatmari P,
Zwaigenbaum L,
Kushki A,
Frazier TW,
Vorstman JAS,
Fakhro KA,
Fernandez BA,
Lewis MES,
Weksberg R,
Fiume M,
Yuen RKC,
Anagnostou E,
Sondheimer N,
Glazer D,
Hartley DM,
Scherer SW</span><br />
<span class="medgenPMjournal">Cell</span>
2022 Nov 10;185(23):4409-4427.e18.
doi: 10.1016/j.cell.2022.10.009.
<span class="bold">PMID: </span><a href="/pubmed/36368308" target="_blank">36368308</a><a href="/pmc/articles/PMC10726699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35982160">Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fu JM,
Satterstrom FK,
Peng M,
Brand H,
Collins RL,
Dong S,
Wamsley B,
Klei L,
Wang L,
Hao SP,
Stevens CR,
Cusick C,
Babadi M,
Banks E,
Collins B,
Dodge S,
Gabriel SB,
Gauthier L,
Lee SK,
Liang L,
Ljungdahl A,
Mahjani B,
Sloofman L,
Smirnov AN,
Barbosa M,
Betancur C,
Brusco A,
Chung BHY,
Cook EH,
Cuccaro ML,
Domenici E,
Ferrero GB,
Gargus JJ,
Herman GE,
Hertz-Picciotto I,
Maciel P,
Manoach DS,
Passos-Bueno MR,
Persico AM,
Renieri A,
Sutcliffe JS,
Tassone F,
Trabetti E,
Campos G,
Cardaropoli S,
Carli D,
Chan MCY,
Fallerini C,
Giorgio E,
Girardi AC,
Hansen-Kiss E,
Lee SL,
Lintas C,
Ludena Y,
Nguyen R,
Pavinato L,
Pericak-Vance M,
Pessah IN,
Schmidt RJ,
Smith M,
Costa CIS,
Trajkova S,
Wang JYT,
Yu MHC;
Autism Sequencing Consortium (ASC);
Broad Institute Center for Common Disease Genomics (Broad-CCDG);
iPSYCH-BROAD Consortium,
Cutler DJ,
De Rubeis S,
Buxbaum JD,
Daly MJ,
Devlin B,
Roeder K,
Sanders SJ,
Talkowski ME</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2022 Sep;54(9):1320-1331.
Epub 2022 Aug 18
doi: 10.1038/s41588-022-01104-0.
<span class="bold">PMID: </span><a href="/pubmed/35982160" target="_blank">35982160</a><a href="/pmc/articles/PMC9653013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35982159">Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou X,
Feliciano P,
Shu C,
Wang T,
Astrovskaya I,
Hall JB,
Obiajulu JU,
Wright JR,
Murali SC,
Xu SX,
Brueggeman L,
Thomas TR,
Marchenko O,
Fleisch C,
Barns SD,
Snyder LG,
Han B,
Chang TS,
Turner TN,
Harvey WT,
Nishida A,
O'Roak BJ,
Geschwind DH;
SPARK Consortium,
Michaelson JJ,
Volfovsky N,
Eichler EE,
Shen Y,
Chung WK</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2022 Sep;54(9):1305-1319.
Epub 2022 Aug 18
doi: 10.1038/s41588-022-01148-2.
<span class="bold">PMID: </span><a href="/pubmed/35982159" target="_blank">35982159</a><a href="/pmc/articles/PMC9470534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32472753">Risk factors, diagnosis, prognosis and treatment of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Styles M,
Alsharshani D,
Samara M,
Alsharshani M,
Khattab A,
Qoronfleh MW,
Al-Dewik NI</span><br />
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
2020 Jun 1;25(9):1682-1717.
doi: 10.2741/4873.
<span class="bold">PMID: </span><a href="/pubmed/32472753" target="_blank">32472753</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25363760">Synaptic, transcriptional and chromatin genes disrupted in autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Rubeis S,
He X,
Goldberg AP,
Poultney CS,
Samocha K,
Cicek AE,
Kou Y,
Liu L,
Fromer M,
Walker S,
Singh T,
Klei L,
Kosmicki J,
Shih-Chen F,
Aleksic B,
Biscaldi M,
Bolton PF,
Brownfeld JM,
Cai J,
Campbell NG,
Carracedo A,
Chahrour MH,
Chiocchetti AG,
Coon H,
Crawford EL,
Curran SR,
Dawson G,
Duketis E,
Fernandez BA,
Gallagher L,
Geller E,
Guter SJ,
Hill RS,
Ionita-Laza J,
Jimenz Gonzalez P,
Kilpinen H,
Klauck SM,
Kolevzon A,
Lee I,
Lei I,
Lei J,
Lehtimäki T,
Lin CF,
Ma'ayan A,
Marshall CR,
McInnes AL,
Neale B,
Owen MJ,
Ozaki N,
Parellada M,
Parr JR,
Purcell S,
Puura K,
Rajagopalan D,
Rehnström K,
Reichenberg A,
Sabo A,
Sachse M,
Sanders SJ,
Schafer C,
Schulte-Rüther M,
Skuse D,
Stevens C,
Szatmari P,
Tammimies K,
Valladares O,
Voran A,
Li-San W,
Weiss LA,
Willsey AJ,
Yu TW,
Yuen RK;
DDD Study;
Homozygosity Mapping Collaborative for Autism;
UK10K Consortium,
Cook EH,
Freitag CM,
Gill M,
Hultman CM,
Lehner T,
Palotie A,
Schellenberg GD,
Sklar P,
State MW,
Sutcliffe JS,
Walsh CA,
Scherer SW,
Zwick ME,
Barett JC,
Cutler DJ,
Roeder K,
Devlin B,
Daly MJ,
Buxbaum JD</span><br />
<span class="medgenPMjournal">Nature</span>
2014 Nov 13;515(7526):209-15.
Epub 2014 Oct 29
doi: 10.1038/nature13772.
<span class="bold">PMID: </span><a href="/pubmed/25363760" target="_blank">25363760</a><a href="/pmc/articles/PMC4402723" 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%209%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 (291)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33932580">Operative list of genes associated with autism and neurodevelopmental disorders based on database review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leblond CS,
Le TL,
Malesys S,
Cliquet F,
Tabet AC,
Delorme R,
Rolland T,
Bourgeron T</span><br />
<span class="medgenPMjournal">Mol Cell Neurosci</span>
2021 Jun;113:103623.
Epub 2021 Apr 29
doi: 10.1016/j.mcn.2021.103623.
<span class="bold">PMID: </span><a href="/pubmed/33932580" target="_blank">33932580</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32472753">Risk factors, diagnosis, prognosis and treatment of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Styles M,
Alsharshani D,
Samara M,
Alsharshani M,
Khattab A,
Qoronfleh MW,
Al-Dewik NI</span><br />
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
2020 Jun 1;25(9):1682-1717.
doi: 10.2741/4873.
<span class="bold">PMID: </span><a href="/pubmed/32472753" target="_blank">32472753</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/25363768">The contribution of de novo coding mutations to autism spectrum disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Iossifov I,
O'Roak BJ,
Sanders SJ,
Ronemus M,
Krumm N,
Levy D,
Stessman HA,
Witherspoon KT,
Vives L,
Patterson KE,
Smith JD,
Paeper B,
Nickerson DA,
Dea J,
Dong S,
Gonzalez LE,
Mandell JD,
Mane SM,
Murtha MT,
Sullivan CA,
Walker MF,
Waqar Z,
Wei L,
Willsey AJ,
Yamrom B,
Lee YH,
Grabowska E,
Dalkic E,
Wang Z,
Marks S,
Andrews P,
Leotta A,
Kendall J,
Hakker I,
Rosenbaum J,
Ma B,
Rodgers L,
Troge J,
Narzisi G,
Yoon S,
Schatz MC,
Ye K,
McCombie WR,
Shendure J,
Eichler EE,
State MW,
Wigler M</span><br />
<span class="medgenPMjournal">Nature</span>
2014 Nov 13;515(7526):216-21.
Epub 2014 Oct 29
doi: 10.1038/nature13908.
<span class="bold">PMID: </span><a href="/pubmed/25363768" target="_blank">25363768</a><a href="/pmc/articles/PMC4313871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24794370">The familial risk of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sandin S,
Lichtenstein P,
Kuja-Halkola R,
Larsson H,
Hultman CM,
Reichenberg A</span><br />
<span class="medgenPMjournal">JAMA</span>
2014 May 7;311(17):1770-7.
doi: 10.1001/jama.2014.4144.
<span class="bold">PMID: </span><a href="/pubmed/24794370" target="_blank">24794370</a><a href="/pmc/articles/PMC4381277" 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%209%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 (172)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39580447">Shared genetic architecture and causality between autism spectrum disorder and irritable bowel syndrome, multisite pain, and fatigue.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
Xie T,
Vos M,
Snieder H,
Hartman CA</span><br />
<span class="medgenPMjournal">Transl Psychiatry</span>
2024 Nov 23;14(1):476.
doi: 10.1038/s41398-024-03184-4.
<span class="bold">PMID: </span><a href="/pubmed/39580447" target="_blank">39580447</a><a href="/pmc/articles/PMC11585586" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38922630">Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaez M,
Montalbano S,
Calle Sánchez X,
Georgii Hellberg KL,
Dehkordi SR,
Krebs MD,
Meijsen J,
Shorter J,
Bybjerg-Grauholm J,
Mortensen PB,
Børglum AD,
Hougaard DM,
Nordentoft M,
Geschwind DH,
Buil A,
Schork AJ,
Helenius D,
Raznahan A,
Thompson WK,
Werge T,
Ingason A;
iPSYCH Investigators</span><br />
<span class="medgenPMjournal">JAMA Psychiatry</span>
2024 Oct 1;81(10):957-966.
doi: 10.1001/jamapsychiatry.2024.1453.
<span class="bold">PMID: </span><a href="/pubmed/38922630" target="_blank">38922630</a><a href="/pmc/articles/PMC11209205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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/32045779">Phthalate exposure and neurodevelopment: A systematic review and meta-analysis of human epidemiological evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Radke EG,
Braun JM,
Nachman RM,
Cooper GS</span><br />
<span class="medgenPMjournal">Environ Int</span>
2020 Apr;137:105408.
Epub 2020 Feb 8
doi: 10.1016/j.envint.2019.105408.
<span class="bold">PMID: </span><a href="/pubmed/32045779" target="_blank">32045779</a><a href="/pmc/articles/PMC8453372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14534514">Diagnosis and treatment of autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manning-Courtney P,
Brown J,
Molloy CA,
Reinhold J,
Murray D,
Sorensen-Burnworth R,
Messerschmidt T,
Kent B</span><br />
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
2003 Oct;33(9):283-304.
doi: 10.1016/s1538-5442(03)00108-1.
<span class="bold">PMID: </span><a href="/pubmed/14534514" target="_blank">14534514</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%209%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 (41)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36309498">Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chan AJS,
Engchuan W,
Reuter MS,
Wang Z,
Thiruvahindrapuram B,
Trost B,
Nalpathamkalam T,
Negrijn C,
Lamoureux S,
Pellecchia G,
Patel RV,
Sung WWL,
MacDonald JR,
Howe JL,
Vorstman J,
Sondheimer N,
Takahashi N,
Miles JH,
Anagnostou E,
Tammimies K,
Zarrei M,
Merico D,
Stavropoulos DJ,
Yuen RKC,
Fernandez BA,
Scherer SW</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2022 Oct 29;13(1):6463.
doi: 10.1038/s41467-022-34112-z.
<span class="bold">PMID: </span><a href="/pubmed/36309498" target="_blank">36309498</a><a href="/pmc/articles/PMC9617891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32472753">Risk factors, diagnosis, prognosis and treatment of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Styles M,
Alsharshani D,
Samara M,
Alsharshani M,
Khattab A,
Qoronfleh MW,
Al-Dewik NI</span><br />
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
2020 Jun 1;25(9):1682-1717.
doi: 10.2741/4873.
<span class="bold">PMID: </span><a href="/pubmed/32472753" target="_blank">32472753</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/31110234">A novel de novo frameshift variant in SETD1B causes epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Den K,
Kato M,
Yamaguchi T,
Miyatake S,
Takata A,
Mizuguchi T,
Miyake N,
Mitsuhashi S,
Matsumoto N</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2019 Aug;64(8):821-827.
Epub 2019 May 20
doi: 10.1038/s10038-019-0617-1.
<span class="bold">PMID: </span><a href="/pubmed/31110234" target="_blank">31110234</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14534514">Diagnosis and treatment of autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manning-Courtney P,
Brown J,
Molloy CA,
Reinhold J,
Murray D,
Sorensen-Burnworth R,
Messerschmidt T,
Kent B</span><br />
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
2003 Oct;33(9):283-304.
doi: 10.1016/s1538-5442(03)00108-1.
<span class="bold">PMID: </span><a href="/pubmed/14534514" target="_blank">14534514</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%209%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 (65)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37704762">Single-cell brain organoid screening identifies developmental defects in autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li C,
Fleck JS,
Martins-Costa C,
Burkard TR,
Themann J,
Stuempflen M,
Peer AM,
Vertesy Á,
Littleboy JB,
Esk C,
Elling U,
Kasprian G,
Corsini NS,
Treutlein B,
Knoblich JA</span><br />
<span class="medgenPMjournal">Nature</span>
2023 Sep;621(7978):373-380.
Epub 2023 Sep 13
doi: 10.1038/s41586-023-06473-y.
<span class="bold">PMID: </span><a href="/pubmed/37704762" target="_blank">37704762</a><a href="/pmc/articles/PMC10499611" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36368308">Genomic architecture of autism from comprehensive whole-genome sequence annotation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trost B,
Thiruvahindrapuram B,
Chan AJS,
Engchuan W,
Higginbotham EJ,
Howe JL,
Loureiro LO,
Reuter MS,
Roshandel D,
Whitney J,
Zarrei M,
Bookman M,
Somerville C,
Shaath R,
Abdi M,
Aliyev E,
Patel RV,
Nalpathamkalam T,
Pellecchia G,
Hamdan O,
Kaur G,
Wang Z,
MacDonald JR,
Wei J,
Sung WWL,
Lamoureux S,
Hoang N,
Selvanayagam T,
Deflaux N,
Geng M,
Ghaffari S,
Bates J,
Young EJ,
Ding Q,
Shum C,
D'Abate L,
Bradley CA,
Rutherford A,
Aguda V,
Apresto B,
Chen N,
Desai S,
Du X,
Fong MLY,
Pullenayegum S,
Samler K,
Wang T,
Ho K,
Paton T,
Pereira SL,
Herbrick JA,
Wintle RF,
Fuerth J,
Noppornpitak J,
Ward H,
Magee P,
Al Baz A,
Kajendirarajah U,
Kapadia S,
Vlasblom J,
Valluri M,
Green J,
Seifer V,
Quirbach M,
Rennie O,
Kelley E,
Masjedi N,
Lord C,
Szego MJ,
Zawati MH,
Lang M,
Strug LJ,
Marshall CR,
Costain G,
Calli K,
Iaboni A,
Yusuf A,
Ambrozewicz P,
Gallagher L,
Amaral DG,
Brian J,
Elsabbagh M,
Georgiades S,
Messinger DS,
Ozonoff S,
Sebat J,
Sjaarda C,
Smith IM,
Szatmari P,
Zwaigenbaum L,
Kushki A,
Frazier TW,
Vorstman JAS,
Fakhro KA,
Fernandez BA,
Lewis MES,
Weksberg R,
Fiume M,
Yuen RKC,
Anagnostou E,
Sondheimer N,
Glazer D,
Hartley DM,
Scherer SW</span><br />
<span class="medgenPMjournal">Cell</span>
2022 Nov 10;185(23):4409-4427.e18.
doi: 10.1016/j.cell.2022.10.009.
<span class="bold">PMID: </span><a href="/pubmed/36368308" target="_blank">36368308</a><a href="/pmc/articles/PMC10726699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35982160">Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fu JM,
Satterstrom FK,
Peng M,
Brand H,
Collins RL,
Dong S,
Wamsley B,
Klei L,
Wang L,
Hao SP,
Stevens CR,
Cusick C,
Babadi M,
Banks E,
Collins B,
Dodge S,
Gabriel SB,
Gauthier L,
Lee SK,
Liang L,
Ljungdahl A,
Mahjani B,
Sloofman L,
Smirnov AN,
Barbosa M,
Betancur C,
Brusco A,
Chung BHY,
Cook EH,
Cuccaro ML,
Domenici E,
Ferrero GB,
Gargus JJ,
Herman GE,
Hertz-Picciotto I,
Maciel P,
Manoach DS,
Passos-Bueno MR,
Persico AM,
Renieri A,
Sutcliffe JS,
Tassone F,
Trabetti E,
Campos G,
Cardaropoli S,
Carli D,
Chan MCY,
Fallerini C,
Giorgio E,
Girardi AC,
Hansen-Kiss E,
Lee SL,
Lintas C,
Ludena Y,
Nguyen R,
Pavinato L,
Pericak-Vance M,
Pessah IN,
Schmidt RJ,
Smith M,
Costa CIS,
Trajkova S,
Wang JYT,
Yu MHC;
Autism Sequencing Consortium (ASC);
Broad Institute Center for Common Disease Genomics (Broad-CCDG);
iPSYCH-BROAD Consortium,
Cutler DJ,
De Rubeis S,
Buxbaum JD,
Daly MJ,
Devlin B,
Roeder K,
Sanders SJ,
Talkowski ME</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2022 Sep;54(9):1320-1331.
Epub 2022 Aug 18
doi: 10.1038/s41588-022-01104-0.
<span class="bold">PMID: </span><a href="/pubmed/35982160" target="_blank">35982160</a><a href="/pmc/articles/PMC9653013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28191890">Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kosmicki JA,
Samocha KE,
Howrigan DP,
Sanders SJ,
Slowikowski K,
Lek M,
Karczewski KJ,
Cutler DJ,
Devlin B,
Roeder K,
Buxbaum JD,
Neale BM,
MacArthur DG,
Wall DP,
Robinson EB,
Daly MJ</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2017 Apr;49(4):504-510.
Epub 2017 Feb 13
doi: 10.1038/ng.3789.
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<div class="nl"><a target="_blank" href="/pubmed/23934111">De novo mutations in epileptic encephalopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Epi4K Consortium;
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Allen AS,
Berkovic SF,
Cossette P,
Delanty N,
Dlugos D,
Eichler EE,
Epstein MP,
Glauser T,
Goldstein DB,
Han Y,
Heinzen EL,
Hitomi Y,
Howell KB,
Johnson MR,
Kuzniecky R,
Lowenstein DH,
Lu YF,
Madou MR,
Marson AG,
Mefford HC,
Esmaeeli Nieh S,
O'Brien TJ,
Ottman R,
Petrovski S,
Poduri A,
Ruzzo EK,
Scheffer IE,
Sherr EH,
Yuskaitis CJ,
Abou-Khalil B,
Alldredge BK,
Bautista JF,
Berkovic SF,
Boro A,
Cascino GD,
Consalvo D,
Crumrine P,
Devinsky O,
Dlugos D,
Epstein MP,
Fiol M,
Fountain NB,
French J,
Friedman D,
Geller EB,
Glauser T,
Glynn S,
Haut SR,
Hayward J,
Helmers SL,
Joshi S,
Kanner A,
Kirsch HE,
Knowlton RC,
Kossoff EH,
Kuperman R,
Kuzniecky R,
Lowenstein DH,
McGuire SM,
Motika PV,
Novotny EJ,
Ottman R,
Paolicchi JM,
Parent JM,
Park K,
Poduri A,
Scheffer IE,
Shellhaas RA,
Sherr EH,
Shih JJ,
Singh R,
Sirven J,
Smith MC,
Sullivan J,
Lin Thio L,
Venkat A,
Vining EP,
Von Allmen GK,
Weisenberg JL,
Widdess-Walsh P,
Winawer MR</span><br />
<span class="medgenPMjournal">Nature</span>
2013 Sep 12;501(7466):217-21.
Epub 2013 Aug 11
doi: 10.1038/nature12439.
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<span class="medgenPMjournal">Genet Med</span>
2025 Jan;27(1):101227.
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<div class="nl"><a target="_blank" href="/pubmed/38732157">Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.</a></div>
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Rasga C,
Santos JX,
Martiniano H,
Marques AR,
Oliveira G,
Vicente AM</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Apr 30;25(9)
doi: 10.3390/ijms25094938.
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<div class="nl"><a target="_blank" href="/pubmed/36429911">Special Care Patients and Caries Prevalence in Permanent Dentition: A Systematic Review.</a></div>
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Pecci-Lloret MP,
Rodríguez-Lozano FJ</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2022 Nov 17;19(22)
doi: 10.3390/ijerph192215194.
<span class="bold">PMID: </span><a href="/pubmed/36429911" target="_blank">36429911</a><a href="/pmc/articles/PMC9690089" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32045779">Phthalate exposure and neurodevelopment: A systematic review and meta-analysis of human epidemiological evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Radke EG,
Braun JM,
Nachman RM,
Cooper GS</span><br />
<span class="medgenPMjournal">Environ Int</span>
2020 Apr;137:105408.
Epub 2020 Feb 8
doi: 10.1016/j.envint.2019.105408.
<span class="bold">PMID: </span><a href="/pubmed/32045779" target="_blank">32045779</a><a href="/pmc/articles/PMC8453372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30182779">Genetic susceptibility to cerebrovascular disease: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Griessenauer CJ,
Farrell S,
Sarkar A,
Zand R,
Abedi V,
Holland N,
Michael A,
Cummings CL,
Metpally R,
Carey DJ,
Goren O,
Martin N,
Hendrix P,
Schirmer CM</span><br />
<span class="medgenPMjournal">J Cereb Blood Flow Metab</span>
2018 Nov;38(11):1853-1871.
Epub 2018 Sep 5
doi: 10.1177/0271678X18797958.
<span class="bold">PMID: </span><a href="/pubmed/30182779" target="_blank">30182779</a><a href="/pmc/articles/PMC6259318" 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%209%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 (8)</a></div></div>
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