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Publications

Below is the complete list of publications included in our database. For more information about a specific publications, click the icon under "Details".

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Al-Mubarak2017Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio st [...]2017Whole exome sequencing47 Simplex: 19 triosSaudi ArabiaAutism spectrum disorder10.1038/s41598-017-06033-128720891
An2014Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems a [...]2014Whole exome sequencing44 Case-control: 48 cases, 80 controlsWestern Australian Autism Biological RegistryAutism spectrum disorder10.1038/tp.2014.3824893065
Ben-Shalom2017Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individu [...]2017Targeted sequencing (1 gene)25 Simplex/Multiplex: 148 familiesPubMedAutism spectrum disorder, epileptic encephalopathy, sporadic ataxia, benign infantile familial seizures10.1016/j.biopsych.2017.01.00928256214
Callaghan2019Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort2019Whole genome sequencing131 Simplex and multiplex: 119 casesASPIREAutism spectrum disorder10.1111/cge.1355631038196
Chahrour2012Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes i [...]2012Whole exome sequencing64 Simplex/Multiplex: 16 familiesAutism Genetic Resource ExchangeAutism spectrum disorder10.1371/journal.pgen.100263522511880
Chan2019Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants2019Whole genome sequencing, Whole exome sequencing, Targeted sequencing18 Simplex: 5Hospital for Sick ChildrenAutism spectrum disorder/ Neurodevelopmental Disorder/ Wiedemann-Steiner Syndrome10.1038/s41525-019-0083-x31044088
Chen2017Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut [...]2017Whole exome sequencing128 116 trios: Family-basedUniversity of Illinois at Chicago ACE projectAutism spectrum disorder10.1186/s13229-017-0130-328344757
Cherot2017Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of [...]2017Medical Exome Sequencing4 Simplex: 216 patientsFranceAutism spectrum disorder, non-syndromic intellectual disability, syndromic intellectual disability, pediatric neurodegenerative disorders10.1111/cge.1310228708303
Codina-Sola2015Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spect [...]2015Whole exome sequencing121 Simplex, Multiplex: 36 cases/familiesSpainAutism spectrum disorder10.1186/s13229-015-0017-025969726
Cukier2014Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and [...]2014Whole exome sequencing518 Multiplex: 100 cases from 40 familiesFlorida, South Carolina, TennesseeAutism spectrum disorder10.1186/2040-2392-5-124410847
DeRubeis2014Synaptic, transcriptional and chromatin genes disrupted in autism2014Whole exome sequencing1694 Simplex/Case-control: 3871 casesSimons Simplex Collection, ARRA Autism Sequencing Consortium, Boston Autism Consortium, Icahn School of Medicine at Mount Sinai, Finnish Genome Center, Goethe-Universität, Boston Children’s Hospital, UK 10KAutism spectrum disorder10.1038/nature1377225363760
Doan2019Recessive gene disruptions in autism spectrum disorder2019Whole Exome sequencing68 Simplex, Case control: 2343 ASD individuals, 5852 unaffected individualsAutism Sequencing Consortium (ASC)ASDdoi.org/10.1038/s41588-019-0433-831209396
Dong2014De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectru [...]2014Whole exome sequencing95 Simplex: 602 quartets, 185 triosSimons Simplex CollectionAutism spectrum disorder10.1016/j.celrep.2014.08.06825284784
Du2018Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or  [...]2018Whole exome sequencing7 simplex: 80 triosDepartment of Developmental Behavioral Pediatric and Children Healthcare at Xinhua Hospital, Shanghai, ChinaAutism spectrum disorder, suspected autism spectrum disorder10.3389/fgene.2018.0059430555518
D’Gama2015Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms2015Targeted sequencing34 Simplex: 55 postmortem brains, 50 neurotypical controlsAutism BrainNet, SickKids, Harvard, NIH NeuroBioBankAutism spectrum disorder10.1016/j.neuron.2015.11.00926637798
Feliciano2019Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes2019Whole Exome Sequencing717 Simplex/Multiplex: 457 families with ASD (418 simplex, 39 multiplex)SPARKASD10.1038/s41525-019-0093-831452935
Guo2018Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifac [...]2018Molecular inversion probes1721 Simplex/Multiplex: 3120 cases (2279 from trios/quads)Autism Clinical and Genetic Resources in China Autism spectrum disorder10.1186/s13229-018-0247-z30564305
Gupta2014Rare deleterious mutations of the gene EFR3A in autism spectrum disorders 2014Sanger sequencing, whole exome sequencing 64 Simplex: 2196 cases, 3389 controls.Simons Simplex Collection, ARRA Autism Sequencing CollaborationAutism spectrum disorder10.1186/2040-2392-5-3124860643
Hashimoto2016Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder2016Whole exome sequencing37 Simplex: 30 triosHuman Brain Phenotype Consortium in JapanAutism spectrum disorder10.1038/jhg.2015.14126582266
Helsmoortel2014A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP2014Whole exome sequencing, molecular inversion probes, high-resolution melting10 Case-control: 10 casesMultiple SourcesAutism spectrum disorder, intellectual disability10.1038/ng.289924531329
Iossifov2012De Novo Gene Disruptions in Children on the Autistic Spectrum 2012Whole exome sequencing444 Simplex: 343 quartetsSimons Simplex CollectionAutism spectrum disorder10.1016/j.neuron.2012.04.00922542183
Iossifov2014The contribution of de novo coding mutations to autism spectrum disorder2014Whole exome sequencing3386 Simplex: 2517 familiesSimons Simplex CollectionAutism spectrum disorder10.1038/nature1390825363768
Ji2016Increased burden of deleterious variants in essential genes in autism spectrum disorder2016Whole exome sequencing2056 Simplex: 1781 quartetSimons Simplex CollectionAutism spectrum disorder10.1073/pnas.161319511327956632
Jiang2013Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequen [...]2013Whole genome sequencing56 Simplex: 32 triosAutism Genetic Resource ExchangeAutism spectrum disorder10.1016/j.ajhg.2013.06.01223849776
Kenny2014Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectru [...]2014Targeted sequencing (215 genes)10 Case-control: 147 autism spectrum disorder cases, 273 schizophrenia cases, 287 controlsIrelandAutism spectrum disorder, schizophrenia10.1038/mp.2013.12724126926
Kosmicki2017Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using po [...]2017Whole exome sequencing5829 Simplex: 3982 ASD casesExome Aggregation Consortium, PMID:25363760, PMID:25363768Autism spectrum disorder, intellectual disability, developmental delay10.1038/ng.378928191890
Krumm2015Excess of rare, inherited truncating mutations in autism2015Whole exome sequencing846 Simplex: 2377 casesSimons Simplex CollectionAutism spectrum disorder10.1038/ng.330325961944
Krupp2017Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder2017Whole exome sequencing1316 Simplex: 2506 familiesSimons Simplex CollectionAutism spectrum disorder10.1016/j.ajhg.2017.07.01628867142
Leblond2019Both rare and common genetic variants contribute to autism in the Faroe Islands2019Whole exome sequencing6768 Case-control, : 36 individuals with autism, 185 controlsFaroe IslandAutism spectrum disorder10.1038/s41525-018-0075-230675382
Lee2014Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins w [...]2014Whole exome sequencing12 Multiplex: 2 casesAutism spectrum disorder10.1093/hmg/ddu05624501278
Li2017Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au [...]2017Targeted sequencing, whole genome sequencing508 Simplex: 536 triosAutism Clinical and Genetic Resources in China Autism spectrum disorder10.1038/mp.2017.14028831199
Lim2017Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder2017Whole exome sequencing3462 Simplex: 5947 triosAutism Sequencing Consortium, Simons Simplex Collection, BCH, Broad_v8, Broad_v11, Finnish, Frankfurt, MSSM, Sanger, Upenn, VUAutism spectrum disorder10.1038/nn.459828714951
Long2019The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese C [...]2019Targeted sequencing, Whole exome sequencing33 Simplex: 103 casesChinese childrenAutism spectrum disorder/ Epilepsy10.3389/fneur.2019.0050531139143
Michaelson2012Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation 2012Whole genome sequencing632 Multiplex: 10 identical twins (quartets)NIMH Repository and Genomics ResourceAutism spectrum disorder10.1016/j.cell.2012.11.01923260136
Moreno-Ramos2015Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems a [...]2015Whole exome sequencing4 Simplex: 4 triosLiga Colombiana de AutismoAutism spectrum disorder10.1371/journal.pone.013592726352270
Murdoch2015No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated [...]2015Targeted next-generation sequencing48 Simplex: 1332 casesSimons Simplex CollectionAutism spectrum disorder10.1371/journal.pgen.100485225621974
Nakajima2014De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, a [...]2014Whole exome sequencing2 Simplex: 2 casesAutism spectrum disorder, epilepsy, intellectual disability10.1111/cge.1239424697219
Neale2012Patterns and rates of exonic de novo mutations in autism spectrum disorders 2012Whole exome sequencing176 Simplex/Multiplex: 175 triosBoston’s Autism Consortium, University of Illinois at Chicago, Mount Sinai School of Medicine, Vanderbilt University, University of Pittsburgh School of Medicine, Autism Genetic Resource ExchangeAutism spectrum disorder10.1038/nature1101122495311
O’Roak2012aMultiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders 2012Multiplex targeted sequencing (44 genes)68 Simplex: 2446 casesSimons Simplex CollectionAutism spectrum disorder10.1126/science.1227764 23160955
O’Roak2012bSporadic autism exomes reveal a highly interconnected protein network of de novo mutations 2012Whole exome sequencing243 Simplex: 189 triosSimons Simplex CollectionAutism spectrum disorder10.1038/nature1098922495309
O’Roak2014Recurrent de novo mutations implicate novel genes underlying simplex autism risk2014Molecular inversion probes (64 genes)154 Simplex: 3486 casesSimons Simplex Collection, The Autism Simplex Collection, PMID:23033978, PMID:22495311, PMID:23020937Autism spectrum disorder, intellectual disability10.1038/ncomms659525418537
Patowary2019Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene2019Whole exome sequencing144 Case-control: 26 families, 61 subjectsNIMH repositoryAutism spectrum disorder10.1038/s41398-018-0343-z30664616
Ruzzo2019Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks2019Whole genome sequencing6209 Multiplex: 493 multiplex ASD families (960 ASD individuals)iHartASDdoi.org/10.1016/j.cell.2019.07.01528325891
Sanders2012De novo mutations revealed by whole-exome sequencing are strongly associated with autism2012Whole exome sequencing96 Simplex: 225 familiesSimons Simplex CollectionAutism spectrum disorder10.1038/nature1094522495306
Satterstrom2018Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk2018Whole exome sequencing12160 Mixed: Case-control: 6430 ASD cases and 2079 unaffected controls.Autism Sequencing Consortium (v15 VCF, Neale 2012), Simons Simplex Collection (Dong 2014, Iossifov 2014, Krumm 2015), De Rubeis 2014, Werling 2018Autism spectrum disorder10.1101/484113
Schaaf2011Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders2011Targeted sequencing104 Simplex: 339Simons Simplex CollectionAutism spectrum disorder10.1093/hmg/ddr24321624971
Shi2013Whole-genome sequencing in an autism multiplex family 2013Whole genome sequencing118 Multiplex: 2 casesAutism Genetic Resource ExchangeAutism spectrum disorder10.1186/2040-2392-4-823597238
Stessman2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development [...]2017Targeted sequencing (208 genes)732 Simplex/Multiplex/Cases: 6342Autism Clinical and Genetic Resources in China, Autism Genetic Resource Exchange, Autism Phenome Project, Leuven, Melbourne, Murdoch, San Diego, The Autism Simplex CollectionAutism Spectrum Disorder, Intellectual Disability, Developmental Delay10.1038/ng.379228191889
Takata2018Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di [...]2018Whole exome sequencing327 Simplex: 262 triosJapanAutism spectrum disorder10.1016/j.celrep.2017.12.07429346770
Tammimies2015Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children [...]2015Whole exome sequencing96 Simplex/Multiplex: 95 triosNewfoundland and LabradorAutism spectrum disorder10.1001/jama.2015.1007826325558
Toma2013Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating muta [...]2013Whole exome sequencing220 Multiplex: 10 familiesSpainAutism spectrum disorder10.1038/mp.2013.10623999528
Torti2019Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of lit [...]2019Targeted sequencing27 Simplex: 18 casesGeneDx, GeneMatcherAutism spectrum disorder/ Developmental Delay/ Intellectual disability10.1038/s41436-019-0454-930739909
Turner2016Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN [...]2016Whole genome sequencing3790 Simplex: 53 familiesSimons Simplex CollectionAutism spectrum disorder10.1016/j.ajhg.2015.11.02326749308
Turner2017Genomic Patterns of De Novo Mutation in Simplex Autism2017Whole genome sequencing, whole exome sequencing43 Simplex: 476 familiesSimons Simplex CollectionAutism spectrum disorder10.1016/j.cell.2017.08.04728965761
Uddin2014Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectru [...]2014Whole exome sequencing56 Simplex: 56 cases, 17 siblingSimons Simplex CollectionAutism spectrum disorder10.1038/ng.298024859339
Vaags2012Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder 2012Targeted exome sequencing8 Simplex/Multiplex: 4 familiesAutism spectrum disorder10.1016/j.ajhg.2011.11.02522209245
vanBon2015Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID2015Targeted resequencing (1 gene)6 Simplex: 7162Simons Simplex Collection, Radboud University Medical Center, Troina, Leuven, Murdoch CRI, PMID:23099646, PMID:25167861Autism spectrum disorder, intellectual disability10.1038/mp.2015.525707398
Wang2016De novo genic mutations among a Chinese autism spectrum disorder cohort2016Molecular inversion probe (189 genes)770 Simplex/Unknown: 1543 (1045 from trios)State Key Laboratory of Medical Genetics of ChinaAutism spectrum disorder10.1038/ncomms1331627824329
Wen2017Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation2017Whole Exome Sequencing6 Simplex: 120 ASD patientsShanghai Mental Health Center of Shanghai Jiao Tong UniversityASDdoi.org/10.1186/s13229-017-0157-528785396
Werling2018An analytical framework for whole-genome sequence association studies and its implications for autis [...]2018Whole genome sequencing339 Simplex: 519 ASD familiesSimons Simplex CollectionAutism spectrum disorder10.1038/s41588-018-0107-y29700473
Willsey2013Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis  [...]2013Whole exome sequencing147 Simplex/Multiplex: 1,043 families (599 quartets, 444 trios)Simons Simplex Collection, PMID:22542183, PMID:23160955, PMID:22495309, PMID:22495311, PMID:22914163Autism spectrum disorder10.1016/j.cell.2013.10.02024267886
Wu2018Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing [...]2014Whole genome sequencing2210 Simplex: 32 Chinese triosChildren's Hospital of Fudan University, Second Xiangya Hospital of Central South UniversityAutism spectrum disorder10.1016/j.jgg.2018.09.00230392784
Yamamoto2019Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders2019Targeted sequencing10 Simplex: 54 ASDJapanese patientsAutism spectrum disorder, intellectual disability, developmental delay, epilepsy10.1016/j.braindev.2019.05.00731171384
Yu2013Using Whole-Exome Sequencing to Identify Inherited Causes of Autism2013Whole exome sequencing20 Simplex/Multiplex: 277 casesHomozygosity Mapping Collaborative for AutismAutism spectrum disorder10.1016/j.neuron.2012.11.00223352163
Yuen2015Whole-genome sequencing of quartet families with autism spectrum disorder2015Whole genome sequencing204 Multiplex: 170 cases (85 quartet families)CanadaAutism spectrum disorder10.1038/nm.379225621899
Yuen2016Genome-wide characteristics of de novo mutations in autism2016Whole genome sequencing11088 Simplex: 200 triosCanadian ASD familiesAutism spectrum disorder10.1038/npjgenmed.2016.2727525107
Yuen2017Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder2017Whole genome sequencing140304 Simplex/Multiplex: 2626Autism Genetic Resource Exchange, Autism Treatment Network, ASD: Genomes to Outcomes Study, Baby Siblings Research Consortium, The Autism Simplex Collection, Infant Sibling Study, The Autism Simplex Collection, Pathways in ASD, Autism spectrum disorder10.1038/nn.452428263302
Zhao2019Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development2019Targeted sequencing79 Case-control: 2926 individuals, 45376 controlsAutism Clinical and Genetic Resources in China Autism Spectrum Disorder10.1016/j.jgg.2019.04.00231196716
Zhou2019Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveal [...]2019Targeted sequencing18 Case control: 539 cases, 512 controlsChinese cohortAutism spectrum disorder10.1002/humu.2372430763456