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<meta name="keywords" content="C2677504, autism 15, autism susceptibility 15, autism, susceptibility to, 15, autism, susceptibility to, type 15, auts15, cntnap2, finding, susceptibility to autism 15, 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 coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which impaired intellectual development 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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<title>Autism, susceptibility to, 15 (Concept Id: C2677504)
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<!--
UID=394302
ConceptID=C2677504
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autism, susceptibility to, 15<span class="h1sub">(AUTS15)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394302</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:">C2677504</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 15; Autism susceptibility 15</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="CNTNAP2 - ID: 26047 - NCBI Gene" href="/gene/26047" class="medgenPMinfo">CNTNAP2</a> (7q35-36.1)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012801" target="_blank">MONDO:0012801</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/612100" target="_blank">612100</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 coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which impaired intellectual development 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/24580998">Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marchese M,
Conti V,
Valvo G,
Moro F,
Muratori F,
Tancredi R,
Santorelli FM,
Guerrini R,
Sicca F</span><br />
<span class="medgenPMjournal">BMC Med Genet</span>
2014 Feb 27;15:26.
doi: 10.1186/1471-2350-15-26.
<span class="bold">PMID: </span><a href="/pubmed/24580998" target="_blank">24580998</a><a href="/pmc/articles/PMC3941568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24123946">Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Wolf V,
Brison N,
Devriendt K,
Peeters H</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2013 Nov;161A(11):2846-54.
Epub 2013 Oct 10
doi: 10.1002/ajmg.a.36209.
<span class="bold">PMID: </span><a href="/pubmed/24123946" target="_blank">24123946</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22284797">Approach to the genetic evaluation of the child with autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Toriello HV</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2012 Feb;59(1):113-28, xi.
doi: 10.1016/j.pcl.2011.10.014.
<span class="bold">PMID: </span><a href="/pubmed/22284797" target="_blank">22284797</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autism%2C%20susceptibility%20to%2C%2015)%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 (10)</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/38409228">Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tian R,
Ge T,
Kweon H,
Rocha DB,
Lam M,
Liu JZ,
Singh K;
Biogen Biobank Team,
Levey DF,
Gelernter J,
Stein MB,
Tsai EA,
Huang H,
Chabris CF,
Lencz T,
Runz H,
Chen CY</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2024 Feb 26;15(1):1755.
doi: 10.1038/s41467-024-45774-2.
<span class="bold">PMID: </span><a href="/pubmed/38409228" target="_blank">38409228</a><a href="/pmc/articles/PMC10897433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33874999">Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gillentine MA,
Wang T,
Hoekzema K,
Rosenfeld J,
Liu P,
Guo H,
Kim CN,
De Vries BBA,
Vissers LELM,
Nordenskjold M,
Kvarnung M,
Lindstrand A,
Nordgren A,
Gecz J,
Iascone M,
Cereda A,
Scatigno A,
Maitz S,
Zanni G,
Bertini E,
Zweier C,
Schuhmann S,
Wiesener A,
Pepper M,
Panjwani H,
Torti E,
Abid F,
Anselm I,
Srivastava S,
Atwal P,
Bacino CA,
Bhat G,
Cobian K,
Bird LM,
Friedman J,
Wright MS,
Callewaert B,
Petit F,
Mathieu S,
Afenjar A,
Christensen CK,
White KM,
Elpeleg O,
Berger I,
Espineli EJ,
Fagerberg C,
Brasch-Andersen C,
Hansen LK,
Feyma T,
Hughes S,
Thiffault I,
Sullivan B,
Yan S,
Keller K,
Keren B,
Mignot C,
Kooy F,
Meuwissen M,
Basinger A,
Kukolich M,
Philips M,
Ortega L,
Drummond-Borg M,
Lauridsen M,
Sorensen K,
Lehman A;
CAUSES Study,
Lopez-Rangel E,
Levy P,
Lessel D,
Lotze T,
Madan-Khetarpal S,
Sebastian J,
Vento J,
Vats D,
Benman LM,
Mckee S,
Mirzaa GM,
Muss C,
Pappas J,
Peeters H,
Romano C,
Elia M,
Galesi O,
Simon MEH,
van Gassen KLI,
Simpson K,
Stratton R,
Syed S,
Thevenon J,
Palafoll IV,
Vitobello A,
Bournez M,
Faivre L,
Xia K;
SPARK Consortium,
Earl RK,
Nowakowski T,
Bernier RA,
Eichler EE</span><br />
<span class="medgenPMjournal">Genome Med</span>
2021 Apr 19;13(1):63.
doi: 10.1186/s13073-021-00870-6.
<span class="bold">PMID: </span><a href="/pubmed/33874999" target="_blank">33874999</a><a href="/pmc/articles/PMC8056596" 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/30478444">Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Demontis D,
Walters RK,
Martin J,
Mattheisen M,
Als TD,
Agerbo E,
Baldursson G,
Belliveau R,
Bybjerg-Grauholm J,
Bækvad-Hansen M,
Cerrato F,
Chambert K,
Churchhouse C,
Dumont A,
Eriksson N,
Gandal M,
Goldstein JI,
Grasby KL,
Grove J,
Gudmundsson OO,
Hansen CS,
Hauberg ME,
Hollegaard MV,
Howrigan DP,
Huang H,
Maller JB,
Martin AR,
Martin NG,
Moran J,
Pallesen J,
Palmer DS,
Pedersen CB,
Pedersen MG,
Poterba T,
Poulsen JB,
Ripke S,
Robinson EB,
Satterstrom FK,
Stefansson H,
Stevens C,
Turley P,
Walters GB,
Won H,
Wright MJ;
ADHD Working Group of the Psychiatric Genomics Consortium (PGC);
Early Lifecourse &amp; Genetic Epidemiology (EAGLE) Consortium;
23andMe Research Team,
Andreassen OA,
Asherson P,
Burton CL,
Boomsma DI,
Cormand B,
Dalsgaard S,
Franke B,
Gelernter J,
Geschwind D,
Hakonarson H,
Haavik J,
Kranzler HR,
Kuntsi J,
Langley K,
Lesch KP,
Middeldorp C,
Reif A,
Rohde LA,
Roussos P,
Schachar R,
Sklar P,
Sonuga-Barke EJS,
Sullivan PF,
Thapar A,
Tung JY,
Waldman ID,
Medland SE,
Stefansson K,
Nordentoft M,
Hougaard DM,
Werge T,
Mors O,
Mortensen PB,
Daly MJ,
Faraone SV,
Børglum AD,
Neale BM</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2019 Jan;51(1):63-75.
Epub 2018 Nov 26
doi: 10.1038/s41588-018-0269-7.
<span class="bold">PMID: </span><a href="/pubmed/30478444" target="_blank">30478444</a><a href="/pmc/articles/PMC6481311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27869829">Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall CR,
Howrigan DP,
Merico D,
Thiruvahindrapuram B,
Wu W,
Greer DS,
Antaki D,
Shetty A,
Holmans PA,
Pinto D,
Gujral M,
Brandler WM,
Malhotra D,
Wang Z,
Fajarado KVF,
Maile MS,
Ripke S,
Agartz I,
Albus M,
Alexander M,
Amin F,
Atkins J,
Bacanu SA,
Belliveau RA Jr,
Bergen SE,
Bertalan M,
Bevilacqua E,
Bigdeli TB,
Black DW,
Bruggeman R,
Buccola NG,
Buckner RL,
Bulik-Sullivan B,
Byerley W,
Cahn W,
Cai G,
Cairns MJ,
Campion D,
Cantor RM,
Carr VJ,
Carrera N,
Catts SV,
Chambert KD,
Cheng W,
Cloninger CR,
Cohen D,
Cormican P,
Craddock N,
Crespo-Facorro B,
Crowley JJ,
Curtis D,
Davidson M,
Davis KL,
Degenhardt F,
Del Favero J,
DeLisi LE,
Dikeos D,
Dinan T,
Djurovic S,
Donohoe G,
Drapeau E,
Duan J,
Dudbridge F,
Eichhammer P,
Eriksson J,
Escott-Price V,
Essioux L,
Fanous AH,
Farh KH,
Farrell MS,
Frank J,
Franke L,
Freedman R,
Freimer NB,
Friedman JI,
Forstner AJ,
Fromer M,
Genovese G,
Georgieva L,
Gershon ES,
Giegling I,
Giusti-Rodríguez P,
Godard S,
Goldstein JI,
Gratten J,
de Haan L,
Hamshere ML,
Hansen M,
Hansen T,
Haroutunian V,
Hartmann AM,
Henskens FA,
Herms S,
Hirschhorn JN,
Hoffmann P,
Hofman A,
Huang H,
Ikeda M,
Joa I,
Kähler AK,
Kahn RS,
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Karjalainen J,
Kavanagh D,
Keller MC,
Kelly BJ,
Kennedy JL,
Kim Y,
Knowles JA,
Konte B,
Laurent C,
Lee P,
Lee SH,
Legge SE,
Lerer B,
Levy DL,
Liang KY,
Lieberman J,
Lönnqvist J,
Loughland CM,
Magnusson PKE,
Maher BS,
Maier W,
Mallet J,
Mattheisen M,
Mattingsdal M,
McCarley RW,
McDonald C,
McIntosh AM,
Meier S,
Meijer CJ,
Melle I,
Mesholam-Gately RI,
Metspalu A,
Michie PT,
Milani L,
Milanova V,
Mokrab Y,
Morris DW,
Müller-Myhsok B,
Murphy KC,
Murray RM,
Myin-Germeys I,
Nenadic I,
Nertney DA,
Nestadt G,
Nicodemus KK,
Nisenbaum L,
Nordin A,
O'Callaghan E,
O'Dushlaine C,
Oh SY,
Olincy A,
Olsen L,
O'Neill FA,
Van Os J,
Pantelis C,
Papadimitriou GN,
Parkhomenko E,
Pato MT,
Paunio T;
Psychosis Endophenotypes International Consortium,
Perkins DO,
Pers TH,
Pietiläinen O,
Pimm J,
Pocklington AJ,
Powell J,
Price A,
Pulver AE,
Purcell SM,
Quested D,
Rasmussen HB,
Reichenberg A,
Reimers MA,
Richards AL,
Roffman JL,
Roussos P,
Ruderfer DM,
Salomaa V,
Sanders AR,
Savitz A,
Schall U,
Schulze TG,
Schwab SG,
Scolnick EM,
Scott RJ,
Seidman LJ,
Shi J,
Silverman JM,
Smoller JW,
Söderman E,
Spencer CCA,
Stahl EA,
Strengman E,
Strohmaier J,
Stroup TS,
Suvisaari J,
Svrakic DM,
Szatkiewicz JP,
Thirumalai S,
Tooney PA,
Veijola J,
Visscher PM,
Waddington J,
Walsh D,
Webb BT,
Weiser M,
Wildenauer DB,
Williams NM,
Williams S,
Witt SH,
Wolen AR,
Wormley BK,
Wray NR,
Wu JQ,
Zai CC,
Adolfsson R,
Andreassen OA,
Blackwood DHR,
Bramon E,
Buxbaum JD,
Cichon S,
Collier DA,
Corvin A,
Daly MJ,
Darvasi A,
Domenici E,
Esko T,
Gejman PV,
Gill M,
Gurling H,
Hultman CM,
Iwata N,
Jablensky AV,
Jönsson EG,
Kendler KS,
Kirov G,
Knight J,
Levinson DF,
Li QS,
McCarroll SA,
McQuillin A,
Moran JL,
Mowry BJ,
Nöthen MM,
Ophoff RA,
Owen MJ,
Palotie A,
Pato CN,
Petryshen TL,
Posthuma D,
Rietschel M,
Riley BP,
Rujescu D,
Sklar P,
St Clair D,
Walters JTR,
Werge T,
Sullivan PF,
O'Donovan MC,
Scherer SW,
Neale BM,
Sebat J;
CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2017 Jan;49(1):27-35.
Epub 2016 Nov 21
doi: 10.1038/ng.3725.
<span class="bold">PMID: </span><a href="/pubmed/27869829" target="_blank">27869829</a><a href="/pmc/articles/PMC5737772" 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%2015%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 (206)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37186221">Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cucinotta F,
Lintas C,
Tomaiuolo P,
Baccarin M,
Picinelli C,
Castronovo P,
Sacco R,
Piras IS,
Turriziani L,
Ricciardello A,
Scattoni ML,
Persico AM</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2023 Aug;11(8):e2182.
Epub 2023 Apr 25
doi: 10.1002/mgg3.2182.
<span class="bold">PMID: </span><a href="/pubmed/37186221" target="_blank">37186221</a><a href="/pmc/articles/PMC10422062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34321323">O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Velmans C,
O'Donnell-Luria AH,
Argilli E,
Tran Mau-Them F,
Vitobello A,
Chan MC,
Fung JL,
Rech M,
Abicht A,
Aubert Mucca M,
Carmichael J,
Chassaing N,
Clark R,
Coubes C,
Denommé-Pichon AS,
de Dios JK,
England E,
Funalot B,
Gerard M,
Joseph M,
Kennedy C,
Kumps C,
Willems M,
van de Laar IMBH,
Aarts-Tesselaar C,
van Slegtenhorst M,
Lehalle D,
Leppig K,
Lessmeier L,
Pais LS,
Paterson H,
Ramanathan S,
Rodan LH,
Superti-Furga A,
Chung BHY,
Sherr E,
Netzer C,
Schaaf CP,
Erger F</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2022 Jul;59(7):697-705.
Epub 2021 Jul 28
doi: 10.1136/jmedgenet-2020-107470.
<span class="bold">PMID: </span><a href="/pubmed/34321323" target="_blank">34321323</a><a href="/pmc/articles/PMC10256139" 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/31387202">Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kahanovitch U,
Patterson KC,
Hernandez R,
Olsen ML</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2019 Aug 5;20(15)
doi: 10.3390/ijms20153813.
<span class="bold">PMID: </span><a href="/pubmed/31387202" target="_blank">31387202</a><a href="/pmc/articles/PMC6696322" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30478444">Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Demontis D,
Walters RK,
Martin J,
Mattheisen M,
Als TD,
Agerbo E,
Baldursson G,
Belliveau R,
Bybjerg-Grauholm J,
Bækvad-Hansen M,
Cerrato F,
Chambert K,
Churchhouse C,
Dumont A,
Eriksson N,
Gandal M,
Goldstein JI,
Grasby KL,
Grove J,
Gudmundsson OO,
Hansen CS,
Hauberg ME,
Hollegaard MV,
Howrigan DP,
Huang H,
Maller JB,
Martin AR,
Martin NG,
Moran J,
Pallesen J,
Palmer DS,
Pedersen CB,
Pedersen MG,
Poterba T,
Poulsen JB,
Ripke S,
Robinson EB,
Satterstrom FK,
Stefansson H,
Stevens C,
Turley P,
Walters GB,
Won H,
Wright MJ;
ADHD Working Group of the Psychiatric Genomics Consortium (PGC);
Early Lifecourse &amp; Genetic Epidemiology (EAGLE) Consortium;
23andMe Research Team,
Andreassen OA,
Asherson P,
Burton CL,
Boomsma DI,
Cormand B,
Dalsgaard S,
Franke B,
Gelernter J,
Geschwind D,
Hakonarson H,
Haavik J,
Kranzler HR,
Kuntsi J,
Langley K,
Lesch KP,
Middeldorp C,
Reif A,
Rohde LA,
Roussos P,
Schachar R,
Sklar P,
Sonuga-Barke EJS,
Sullivan PF,
Thapar A,
Tung JY,
Waldman ID,
Medland SE,
Stefansson K,
Nordentoft M,
Hougaard DM,
Werge T,
Mors O,
Mortensen PB,
Daly MJ,
Faraone SV,
Børglum AD,
Neale BM</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2019 Jan;51(1):63-75.
Epub 2018 Nov 26
doi: 10.1038/s41588-018-0269-7.
<span class="bold">PMID: </span><a href="/pubmed/30478444" target="_blank">30478444</a><a href="/pmc/articles/PMC6481311" 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%2015%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 (142)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39157677">Risk cycling in diabetes and autism spectrum disorder: a bidirectional Mendelian randomization study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yu Y,
Yang X,
Hu G,
Tong K,
Wu J,
Yu R</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2024;15:1389947.
Epub 2024 Jul 15
doi: 10.3389/fendo.2024.1389947.
<span class="bold">PMID: </span><a href="/pubmed/39157677" target="_blank">39157677</a><a href="/pmc/articles/PMC11328693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38742104">Interactions between circulating inflammatory factors and autism spectrum disorder: a bidirectional Mendelian randomization study in European population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Long J,
Dang H,
Su W,
Moneruzzaman M,
Zhang H</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2024;15:1370276.
Epub 2024 Apr 29
doi: 10.3389/fimmu.2024.1370276.
<span class="bold">PMID: </span><a href="/pubmed/38742104" target="_blank">38742104</a><a href="/pmc/articles/PMC11089225" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27695849">Measles and Measles Vaccination: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bester JC</span><br />
<span class="medgenPMjournal">JAMA Pediatr</span>
2016 Dec 1;170(12):1209-1215.
doi: 10.1001/jamapediatrics.2016.1787.
<span class="bold">PMID: </span><a href="/pubmed/27695849" target="_blank">27695849</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26996178">Alzheimer's Disease and Autistic Spectrum Disorder: Is there any Association?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khan SA,
Khan SA,
Narendra AR,
Mushtaq G,
Zahran SA,
Khan S,
Kamal MA</span><br />
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
2016;15(4):390-402.
doi: 10.2174/1871527315666160321104303.
<span class="bold">PMID: </span><a href="/pubmed/26996178" target="_blank">26996178</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25286049">Particulate matter exposure, prenatal and postnatal windows of susceptibility, and autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalkbrenner AE,
Windham GC,
Serre ML,
Akita Y,
Wang X,
Hoffman K,
Thayer BP,
Daniels JL</span><br />
<span class="medgenPMjournal">Epidemiology</span>
2015 Jan;26(1):30-42.
doi: 10.1097/EDE.0000000000000173.
<span class="bold">PMID: </span><a href="/pubmed/25286049" target="_blank">25286049</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2015%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 (26)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37958807">Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paparella A,
L'Abbate A,
Palmisano D,
Chirico G,
Porubsky D,
Catacchio CR,
Ventura M,
Eichler EE,
Maggiolini FAM,
Antonacci F</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 Oct 31;24(21)
doi: 10.3390/ijms242115818.
<span class="bold">PMID: </span><a href="/pubmed/37958807" target="_blank">37958807</a><a href="/pmc/articles/PMC10648317" 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/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/15780853">Intergenerational transmission of subthreshold autistic traits in the general population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Constantino JN,
Todd RD</span><br />
<span class="medgenPMjournal">Biol Psychiatry</span>
2005 Mar 15;57(6):655-60.
doi: 10.1016/j.biopsych.2004.12.014.
<span class="bold">PMID: </span><a href="/pubmed/15780853" target="_blank">15780853</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14976444">Autism as early expression of catatonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dhossche DM</span><br />
<span class="medgenPMjournal">Med Sci Monit</span>
2004 Mar;10(3):RA31-9.
Epub 2004 Mar 1
<span class="bold">PMID: </span><a href="/pubmed/14976444" target="_blank">14976444</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autism%2C%20susceptibility%20to%2C%2015%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 (53)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38742104">Interactions between circulating inflammatory factors and autism spectrum disorder: a bidirectional Mendelian randomization study in European population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Long J,
Dang H,
Su W,
Moneruzzaman M,
Zhang H</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2024;15:1370276.
Epub 2024 Apr 29
doi: 10.3389/fimmu.2024.1370276.
<span class="bold">PMID: </span><a href="/pubmed/38742104" target="_blank">38742104</a><a href="/pmc/articles/PMC11089225" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38409228">Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tian R,
Ge T,
Kweon H,
Rocha DB,
Lam M,
Liu JZ,
Singh K;
Biogen Biobank Team,
Levey DF,
Gelernter J,
Stein MB,
Tsai EA,
Huang H,
Chabris CF,
Lencz T,
Runz H,
Chen CY</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2024 Feb 26;15(1):1755.
doi: 10.1038/s41467-024-45774-2.
<span class="bold">PMID: </span><a href="/pubmed/38409228" target="_blank">38409228</a><a href="/pmc/articles/PMC10897433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34321323">O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Velmans C,
O'Donnell-Luria AH,
Argilli E,
Tran Mau-Them F,
Vitobello A,
Chan MC,
Fung JL,
Rech M,
Abicht A,
Aubert Mucca M,
Carmichael J,
Chassaing N,
Clark R,
Coubes C,
Denommé-Pichon AS,
de Dios JK,
England E,
Funalot B,
Gerard M,
Joseph M,
Kennedy C,
Kumps C,
Willems M,
van de Laar IMBH,
Aarts-Tesselaar C,
van Slegtenhorst M,
Lehalle D,
Leppig K,
Lessmeier L,
Pais LS,
Paterson H,
Ramanathan S,
Rodan LH,
Superti-Furga A,
Chung BHY,
Sherr E,
Netzer C,
Schaaf CP,
Erger F</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2022 Jul;59(7):697-705.
Epub 2021 Jul 28
doi: 10.1136/jmedgenet-2020-107470.
<span class="bold">PMID: </span><a href="/pubmed/34321323" target="_blank">34321323</a><a href="/pmc/articles/PMC10256139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33432194">Large mosaic copy number variations confer autism risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sherman MA,
Rodin RE,
Genovese G,
Dias C,
Barton AR,
Mukamel RE,
Berger B,
Park PJ,
Walsh CA,
Loh PR</span><br />
<span class="medgenPMjournal">Nat Neurosci</span>
2021 Feb;24(2):197-203.
Epub 2021 Jan 11
doi: 10.1038/s41593-020-00766-5.
<span class="bold">PMID: </span><a href="/pubmed/33432194" target="_blank">33432194</a><a href="/pmc/articles/PMC7854495" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27869829">Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall CR,
Howrigan DP,
Merico D,
Thiruvahindrapuram B,
Wu W,
Greer DS,
Antaki D,
Shetty A,
Holmans PA,
Pinto D,
Gujral M,
Brandler WM,
Malhotra D,
Wang Z,
Fajarado KVF,
Maile MS,
Ripke S,
Agartz I,
Albus M,
Alexander M,
Amin F,
Atkins J,
Bacanu SA,
Belliveau RA Jr,
Bergen SE,
Bertalan M,
Bevilacqua E,
Bigdeli TB,
Black DW,
Bruggeman R,
Buccola NG,
Buckner RL,
Bulik-Sullivan B,
Byerley W,
Cahn W,
Cai G,
Cairns MJ,
Campion D,
Cantor RM,
Carr VJ,
Carrera N,
Catts SV,
Chambert KD,
Cheng W,
Cloninger CR,
Cohen D,
Cormican P,
Craddock N,
Crespo-Facorro B,
Crowley JJ,
Curtis D,
Davidson M,
Davis KL,
Degenhardt F,
Del Favero J,
DeLisi LE,
Dikeos D,
Dinan T,
Djurovic S,
Donohoe G,
Drapeau E,
Duan J,
Dudbridge F,
Eichhammer P,
Eriksson J,
Escott-Price V,
Essioux L,
Fanous AH,
Farh KH,
Farrell MS,
Frank J,
Franke L,
Freedman R,
Freimer NB,
Friedman JI,
Forstner AJ,
Fromer M,
Genovese G,
Georgieva L,
Gershon ES,
Giegling I,
Giusti-Rodríguez P,
Godard S,
Goldstein JI,
Gratten J,
de Haan L,
Hamshere ML,
Hansen M,
Hansen T,
Haroutunian V,
Hartmann AM,
Henskens FA,
Herms S,
Hirschhorn JN,
Hoffmann P,
Hofman A,
Huang H,
Ikeda M,
Joa I,
Kähler AK,
Kahn RS,
Kalaydjieva L,
Karjalainen J,
Kavanagh D,
Keller MC,
Kelly BJ,
Kennedy JL,
Kim Y,
Knowles JA,
Konte B,
Laurent C,
Lee P,
Lee SH,
Legge SE,
Lerer B,
Levy DL,
Liang KY,
Lieberman J,
Lönnqvist J,
Loughland CM,
Magnusson PKE,
Maher BS,
Maier W,
Mallet J,
Mattheisen M,
Mattingsdal M,
McCarley RW,
McDonald C,
McIntosh AM,
Meier S,
Meijer CJ,
Melle I,
Mesholam-Gately RI,
Metspalu A,
Michie PT,
Milani L,
Milanova V,
Mokrab Y,
Morris DW,
Müller-Myhsok B,
Murphy KC,
Murray RM,
Myin-Germeys I,
Nenadic I,
Nertney DA,
Nestadt G,
Nicodemus KK,
Nisenbaum L,
Nordin A,
O'Callaghan E,
O'Dushlaine C,
Oh SY,
Olincy A,
Olsen L,
O'Neill FA,
Van Os J,
Pantelis C,
Papadimitriou GN,
Parkhomenko E,
Pato MT,
Paunio T;
Psychosis Endophenotypes International Consortium,
Perkins DO,
Pers TH,
Pietiläinen O,
Pimm J,
Pocklington AJ,
Powell J,
Price A,
Pulver AE,
Purcell SM,
Quested D,
Rasmussen HB,
Reichenberg A,
Reimers MA,
Richards AL,
Roffman JL,
Roussos P,
Ruderfer DM,
Salomaa V,
Sanders AR,
Savitz A,
Schall U,
Schulze TG,
Schwab SG,
Scolnick EM,
Scott RJ,
Seidman LJ,
Shi J,
Silverman JM,
Smoller JW,
Söderman E,
Spencer CCA,
Stahl EA,
Strengman E,
Strohmaier J,
Stroup TS,
Suvisaari J,
Svrakic DM,
Szatkiewicz JP,
Thirumalai S,
Tooney PA,
Veijola J,
Visscher PM,
Waddington J,
Walsh D,
Webb BT,
Weiser M,
Wildenauer DB,
Williams NM,
Williams S,
Witt SH,
Wolen AR,
Wormley BK,
Wray NR,
Wu JQ,
Zai CC,
Adolfsson R,
Andreassen OA,
Blackwood DHR,
Bramon E,
Buxbaum JD,
Cichon S,
Collier DA,
Corvin A,
Daly MJ,
Darvasi A,
Domenici E,
Esko T,
Gejman PV,
Gill M,
Gurling H,
Hultman CM,
Iwata N,
Jablensky AV,
Jönsson EG,
Kendler KS,
Kirov G,
Knight J,
Levinson DF,
Li QS,
McCarroll SA,
McQuillin A,
Moran JL,
Mowry BJ,
Nöthen MM,
Ophoff RA,
Owen MJ,
Palotie A,
Pato CN,
Petryshen TL,
Posthuma D,
Rietschel M,
Riley BP,
Rujescu D,
Sklar P,
St Clair D,
Walters JTR,
Werge T,
Sullivan PF,
O'Donovan MC,
Scherer SW,
Neale BM,
Sebat J;
CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2017 Jan;49(1):27-35.
Epub 2016 Nov 21
doi: 10.1038/ng.3725.
<span class="bold">PMID: </span><a href="/pubmed/27869829" target="_blank">27869829</a><a href="/pmc/articles/PMC5737772" 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%2015%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 (162)</a></div></div>
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<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/38554965">Association of exposures to environmental chemicals estimated through primary teeth biomatrix and health outcomes in children and adolescents - A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta K,
Muthu MS,
Saikia A,
Sriram S,
Nirmal L,
Wadgave U,
Dhar V</span><br />
<span class="medgenPMjournal">Sci Total Environ</span>
2024 Jun 10;928:172032.
Epub 2024 Mar 29
doi: 10.1016/j.scitotenv.2024.172032.
<span class="bold">PMID: </span><a href="/pubmed/38554965" target="_blank">38554965</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33143244">Association of Allelic Variants of the Reelin Gene with Autistic Spectrum Disorder: A Systematic Review and Meta-Analysis of Candidate Gene Association Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández-García I,
Chamorro AJ,
Ternavasio-de la Vega HG,
Carbonell C,
Marcos M,
Mirón-Canelo JA</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2020 Oct 30;17(21)
doi: 10.3390/ijerph17218010.
<span class="bold">PMID: </span><a href="/pubmed/33143244" target="_blank">33143244</a><a href="/pmc/articles/PMC7663127" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30218715">Frequency and association of mitochondrial genetic variants with neurological disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz ACP,
Ferrasa A,
Muotri AR,
Herai RH</span><br />
<span class="medgenPMjournal">Mitochondrion</span>
2019 May;46:345-360.
Epub 2018 Sep 13
doi: 10.1016/j.mito.2018.09.005.
<span class="bold">PMID: </span><a href="/pubmed/30218715" target="_blank">30218715</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 class="nl"><a target="_blank" href="/pubmed/23018752">1q21.1 Microduplication expression in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dolcetti A,
Silversides CK,
Marshall CR,
Lionel AC,
Stavropoulos DJ,
Scherer SW,
Bassett AS</span><br />
<span class="medgenPMjournal">Genet Med</span>
2013 Apr;15(4):282-9.
Epub 2012 Sep 27
doi: 10.1038/gim.2012.129.
<span class="bold">PMID: </span><a href="/pubmed/23018752" target="_blank">23018752</a><a href="/pmc/articles/PMC3817079" 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%2015%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 (7)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
<div>
<!-- MedGen supplemental column starts here -->
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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>
<div class="portlet_content ln"><ul id="my-toc"></ul></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>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2677504%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
<li><a href="/gtr/tests?term=C2677504%5bDISCUI%5d&amp;filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (1)</a></li>
<li><a href="/gtr/tests?term=C2677504%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C2677504%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
<li><a href="/gtr/tests?term=C2677504%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2677504%5bDISCUI%5d" target="_blank">See all (29)</a></total></li>
</ul></div>
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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>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=612100" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autism,%20susceptibility%20to,%2015" target="_blank">ClinicalTrials.gov</a></li></ul></div>
</div>
<div class="portlet mgSection" id="ID_121">
<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>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autism%2C%20susceptibility%20to%2C%2015)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=604569" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=26047[geneid]" target="_blank">View CNTNAP2 variations in ClinVar</a></li><li><a href="/nuccore/163954933" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612100" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/autism_15" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Autism,%20susceptibility%20to,%2015" target="_blank">MedlinePlus</a></li></ul></div>
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<h3>Reviews</h3>
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<li>
<a href="/pubmed/clinical?term=Autism,%20susceptibility%20to,%2015" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=Autism,%20susceptibility%20to,%2015%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
</li>
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=394302" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=394302" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2677504[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2677504[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&amp;from_uid=394302" ref="log$=recordlinks">OMIM</a>
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