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Abdi2023Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study2023WGS47 simplex, multiplex: 104 casesBARAKA-Qatar study cohortASD10.1186/s13073-023-01228-w37805537
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
Alvarez-Mora2016Comprehensive molecular testing in patients with high functioning autism spectrum disorder2016Targeted sequencing24 simplex: 44collection of Spanish ASD casesAutism spectrum disorder10.1016/j.mrfmmm.2015.12.00626845707
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
Antaki2022A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic  [...]2022whole exome sequencing, whole genome sequencing1040 Case-control: 12270 cases, 25107 controlsSimons Simplex Collection, REACH project at UCSD, SPARK Cohort (PMID: 29420931)Autism spectrum disorder10.1038/s41588-022-01064-535654974
Bar2024Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De No [...]2024Whole Genome Sequencing121 trios: 50unclearASD10.3390/ijms2502119238256266
Ben-Mahmoud2024Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari  [...]2024WGS64 simplex: 50 probends and their parentsShafallah Center for Persons with Disabilities (Doha, Qatar)ASD10.3390/ijms25211155139519104
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
Bruno2021New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing2021whole-exome sequencing26 Trios: 19 ID, 1 ASD, 40 ASD/IDMedical Genetics department of the University of SienaAutism spectrum disorder, intellectual disability10.3390/ijms22241343934948243
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
Cascio2019Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spe [...]2019Targeted sequencing16 simplex: 97Boccuto et al., 2013ASD10.1002/mgg3.103631701662
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
Chan2022Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder2022WGS64 simplex: discovery: 325 cases and 470 parents; repication: 442 cases and 355 unaffected siblingsCanadian children from Newfoundland and LabradorAutism Spectrum Disorderhttps://doi.org/10.1038/s41467-022-34112-z36309498
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
Chen2017aFunctional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEA [...]2017Targeted sequencing, clinical exome sequencing5 Simplex: 6067Baylor GeneticsASD10.1002/humu.2333928940898
Chen2021Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic  [...]2021whole genome sequencing, whole exome sequencing, gene panel, Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA)77 simplex: 154Pediatric cohort from Xiangya Hospital, Central South UniversityAutism spectrum disorder, intellectual disability (ID), global developmental delay (GDD), epilepsy10.1016/j.cca.2021.11.01434800434
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
Cirnigliaro2023The contributions of rare inherited and polygenic risk to ASD in multiplex families2023WGS13590 multiplex: 2,136 autistic and 2,395 nonautistic individuals from 1004 familiesAutism Genetic Resource ExchangeASD10.1073/pnas.221563212037506195
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
Costa2023Three generation families: Analysis of de novo variants in autism2023WES37 simplex: 33 probands and 198 family membersCEGH-CELASDhttps://doi.org/10.1038/s41431-023-01398-637280359
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
Dingemans2022The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major a [...]2022unknown53 unknown: 106 IDDAM patientsID, ASD, macrocephalyhttps://doi.org/10.1038/s41398-022-02189-136182950
Doan2019Recessive gene disruptions in autism spectrum disorder2019Whole Exome sequencing68 Simplex, Case control: 2343 ASD individuals, 5852 unaffected individualsAutism Sequencing Consortium (ASC)ASD10.1038/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
Dou2017Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and  [...]2017Whole Exome sequencing904 Simplex: 2361 familiesSimon Simplex CollectionAutism spectrum disorder10.1002/humu.2325528503910
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
Durbagula2024Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: fi [...]2024WES980 simplex: 23 probands and their parentsSt John’s Research Institute, Bangalore, Karnataka, IndiaASD10.1136/gpsych-2024-10160639534727
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
Fu2022Rare coding variation provides insight into the genetic architecture and phenotypic context of autis [...]2022Whole exome sequencing26143 trios: 15036 cases, 28522 parent and 5492 sibling controlsAutism Sequencing Consortium (ASC), Simons Simplex Collection (SSC), Simons Foundation Powering Autism Research for Knowledge (SPARK)Autism spectrum disorder10.1038/s41588-022-01104-035982160
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
Gupta2023Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome s [...]2023whole exome sequencing13 simplex: 6 probands with parentsQatarAutism spectrum disorderhttps://doi.org/10.3389/fpsyt.2023.1251884
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
Hiatt2019Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder2019Targeted sequencing8 simplex: 7Clinical Sequencing Exploratory ResearchAutism spectrum disorder10.1016/j.ajhg.2019.02.00230879638
Hu2022Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum  [...]2022targeted sequencing110 simplex: 573Children's Hospital of Fudan University, Department of Child Health CareAutism spectrum disorder10.3390/genes1306101035741772
Hu2023Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort stud [...]2023Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study.89 simplex: 160 casesChildren’s Hospital of Fudan UniversityASDhttps://doi.org/10.3389/fgene.2023.108377937007974
Husson2020Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and prac [...]2020Whole exome sequencing32 Simplex: 253FranceASDdoi.org/10.1038/s41398-020-0760-732094338
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
Ishay2021Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel2021Whole exome sequencing36 Trios, multiplex: 182 probandsNational Autism Research Center of Israel (NARCI)Autism spectrum disorder10.3390/genes1301003635052376
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
Jiao2019dentification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Ex [...]2019Whole Exome Sequencing26 Simplex: 59 triosChengdu cityASD10.1007/s12031-019-01456-z31838722
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
Khan2024Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder2024WES16 simplex, multiplex: 36 families(119 total; 45 probands)PakistanASD10.1038/s41598-024-57942-x38649688
Kim2020Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autis [...]2020Whole Exome Sequencing35 simplex : 51 probands and their parents Korean CohortAutism Spectrum Disorderhttps://dx.doi.org/10.3390/genes1201000133374967
Kim2024Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phen [...]2024WGS46773 simplex, multiplex: 696 cases, 213 sibilings, 1346 parentsSeoul National University Bundang Hospital, Soon Chun Hyang University Hospital Bucheon and Seoul Child HospitalASD10.1186/s13073-024-01385-639334436
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
Krgovic2022Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism [...]2022Whole exome sequencing53 simplex, multiplex, trios: 147Subset of patients with ASD from a large cohort of Slovenian children with NDD (PMID:29930340)Autism spectrum disorder, intellectual disability, development delay, attention deficit hyperactivity disorder, obsessive compulsive disorder, Asperger syndrome10.3389/fnmol.2022.91267135813072
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
Lee2020Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy 2020Targeted sequencing (4,503 genes)22 simplex: 137 casesKorean (Severance Children’s Hospital ) cohortAutism Spectrum Disorder, Epilepsydoi: 10.3389/fphar.2020.00585 32477112
Lennox2020Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development2020targeted sequencing22 Trios, Simplex: 107network of 7 clinical sites Autism spectrum disorder, Attention-deficit/hyperactivity disorder, Depression, Obsessive-compulsive disorder, Anxiety 10.1016/j.neuron.2020.01.04232135084
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
Lo2022Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variant [...]2022targeted sequencing17 Case-control: 185 ASD, 432 SCZ, 517 controlsNagoya University Hospital and co-hospitals in JapanAutism spectrum disorder, schizophrenia10.1080/09540261.2022.207219335699097
Lob2024Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with  [...]2024WES, targeted46 : 523 probandsChildren’s Neurodevelopmental Center of Hasbro Children’s Hospital in ProvidenceASD, epilepsyhttps://doi.org/10.1007/s10803-024-06512-139136901
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
Lowther2023Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder [...]2023WGS51 simplex: 1612 probands with their familiesSimons Simplex CollectionASD10.1016/j.ajhg.2023.07.01037595579
Mahjani2021Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder2021whole exome sequencing155 Simplex: 808 casesPAGESAutism spectrum disorder10.1186/s13229-021-00465-334615535
Marques2022Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder2022Whole exome sequencing, targeted sequencing297 simplex: 1828 casesAutism Sequencing Consortium (490 ASD cases sequenced at Baylor College of Medicine, 1338 at Broad Institute)Autism spectrum disorder10.3390/biomedicines1003066535327467
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
Miyake2023Molecular diagnosis of 405 individuals with autism spectrum disorder2023WES55 trios and quads: 405 probands and their parentsmulti-centre cohort from JapanASD10.1038/s41431-023-01335-736973392
Montenegro2019Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian [...]2019Whole Exome Sequencing19 simplex: 30 triosBrazilian cohortASD10.1002/aur.223831696658
More2023Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and  [...]2023WGS43 multiplex: 76 ASD, 36 controls21 highly multiplex families (3 or more individuals affected in the immediate family)Autism Spectrum Disorder10.1038/s41380-022-01938-436702863
Moreno-Ramos2015Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation  [...]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
Ohashi2021Comprehensive Genetic Analysis of Non‑syndromic Autism Spectrum Disorder in Clinical Settings2021Whole-exome sequencing and Targeted sequencing9 simplex: 48Nagoya City University HospitalAutism Spectrum Disorder (Non-Syndromic)https://doi.org/10.1007/s10803-021-04910-333590427
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)iHartASD10.1016/j.cell.2019.07.01528325891
Sanchis-Juan2023Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental di [...]2023WGS13 simplex: 489 affected individuals and 203 unaffected relatives (25 ASD)National Institute for Health and Care Research BioResource projectASD, ID, epilepsy, …10.1016/j.ajhg.2023.07.00737541188
Sanders2012De novo mutations revealed by whole-exome sequencing are strongly associated with autism2012Whole exome sequencing96 Simplex: 225 familiesSimons Simplex CollectionAutism spectrum disorder10.1038/nature1094522495306
Sandoval-Talamantes2023NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clin [...]2023Targeted sequencing23 simplex: 48 casesLa Paz University Hospital in Madrid, SpainASD, Asperger, ID, epilepsy10.3390/genes1411209138003033
Sands2019Autism and developmental disability caused by KCNQ3 gain-of-function variants2019Targeted sequencing, Whole Exome Sequencing7 Case-only: 11Baylor College of MedicineASD10.1002/ana.2552231177578
Satterstrom2020Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neuro [...]2020Whole Exome Sequencing12160 Multiplex/Case-control: 21219 multiplex (6430 ASD cases, 2179 unaffected sibblings and parents), 14365 case-control (5556 ASD, 8809 unaffected)Autism Sequencing Consortium (v15 VCF, Neale 2012), Simons Simplex Collection (Dong 2014, Iossifov 2014, Krumm 2015), De Rubeis 2014, Werling 2018ASD10.1016/j.cell.2019.12.03631981491
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
Sleyp2022De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder w [...]2022WGS, WES and targeted but only KLHL20 variants reported3 simplex: 3 ASD/ID and 11 IDMatchmaker ExchangeASD, ID, epilepsy, hyperactivity, dysmorphic facial features doi.org/10.1016/j.gim.2022.08.02036214804
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
Tan2024Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay2024WGS, WES8431 simplex,multiplex: 5048 probands and 4090 siblingsSPARK, SSC, ASC, MSSNGASD10.1038/s41380-024-02806-z39472663
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
Tran2020Genetic landscape of autism spectrum disorder in Vietnamese children2020Whole exome sequencing18 Simplex: 100VietnamASDdoi.org/10.1038/s41598-020-61695-832193494
Trost2022Genomic architecture of autism from comprehensive whole-genome sequence annotation2022WGS144111 simplex, multiplex: 5,100 ASD and 6,212 non-ASD parents and siblings from MSSNG MSSNG, SSCASD10.1016/j.cell.2022.10.00936368308
Tuncay2023The genetics of autism spectrum disorder in an East African familial cohort2023WGS278 simplex and multiplex: 36 probands with parents (129 in total)individuals with East African ancestryASDhttps://doi.org/10.1016/j.xgen.2023.100322
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
Valentino2021Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Prese [...]2021Whole Exome Sequencing11 Simplex, Multiplex: 116 ID/ASD and 84 ID probands200 enrolled families with at least one proband, totaling 574 individualsIntelectual Disability, Autism Spectrum Disorder10.3390/brainsci1107093634356170
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
Viggiano2022Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility2022whole genome sequencing, targeted sequencing105 multiplex, trios: 124 cases, 210 parents, 58 unaffected siblingsUOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche (Bologna, Italy)Autism spectrum disorder10.3389/fpsyt.2022.85823835350424
Viggiano2024Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candid [...]2024WES/WGS80 simplex/multiplex: 144 cases, 291 family membersUOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche, Bologna, ItalyAutism Spectrum Disorder10.1038/s41525-024-00411-138519481
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
Wang2020Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020targeted sequencing1891 trios, case-control: 23440 ASD, 16491 DD/ID, 12000-14000 NDD, 45356 controlsAutism Spectrum/Intellectual Disability (ASID) network (Adelaide, ACGC, Troina, Leuven, University of Iowa, AGRE, Charles University of Czech Republic, Italian Autism Network)Autism spectrum disorder, Intellectual Disability, Developmental Disorder10.1038/s41467-020-18723-y33004838
Wang2023https://doi.org/10.1016/j.biopsych.2023.06.0252023WES708 simplex: 772 probandsXinhua Hospital, ChinaASDhttps://doi.org/10.1016/j.biopsych.2023.06.02537393044
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