| Abdi2023 | Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study | 2023 | WGS | 47
| simplex, multiplex: 104 cases | BARAKA-Qatar study cohort | ASD | 10.1186/s13073-023-01228-w | 37805537 | |
| Al-Mubarak2017 | Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio st [...] | 2017 | Whole exome sequencing | 47
| Simplex: 19 trios | Saudi Arabia | Autism spectrum disorder | 10.1038/s41598-017-06033-1 | 28720891 | |
| Alvarez-Mora2016 | Comprehensive molecular testing in patients with high functioning autism spectrum disorder | 2016 | Targeted sequencing | 24
| simplex: 44 | collection of Spanish ASD cases | Autism spectrum disorder | 10.1016/j.mrfmmm.2015.12.006 | 26845707 | |
| An2014 | Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems a [...] | 2014 | Whole exome sequencing | 44
| Case-control: 48 cases, 80 controls | Western Australian Autism Biological Registry | Autism spectrum disorder | 10.1038/tp.2014.38 | 24893065 | |
| Antaki2022 | A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic [...] | 2022 | whole exome sequencing, whole genome sequencing | 1040
| Case-control: 12270 cases, 25107 controls | Simons Simplex Collection, REACH project at UCSD, SPARK Cohort (PMID: 29420931) | Autism spectrum disorder | 10.1038/s41588-022-01064-5 | 35654974 | |
| Bar2024 | Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De No [...] | 2024 | Whole Genome Sequencing | 121
| trios: 50 | unclear | ASD | 10.3390/ijms25021192 | 38256266 | |
| Ben-Mahmoud2024 | Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari [...] | 2024 | WGS | 64
| simplex: 50 probends and their parents | Shafallah Center for Persons with Disabilities (Doha, Qatar) | ASD | 10.3390/ijms252111551 | 39519104 | |
| Ben-Shalom2017 | Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individu [...] | 2017 | Targeted sequencing (1 gene) | 25
| Simplex/Multiplex: 148 families | PubMed | Autism spectrum disorder, epileptic encephalopathy, sporadic ataxia, benign infantile familial seizures | 10.1016/j.biopsych.2017.01.009 | 28256214 | |
| Bruno2021 | New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing | 2021 | whole-exome sequencing | 26
| Trios: 19 ID, 1 ASD, 40 ASD/ID | Medical Genetics department of the University of Siena | Autism spectrum disorder, intellectual disability | 10.3390/ijms222413439 | 34948243 | |
| Callaghan2019 | Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort | 2019 | Whole genome sequencing | 131
| Simplex and multiplex: 119 cases | ASPIRE | Autism spectrum disorder | 10.1111/cge.13556 | 31038196 | |
| Cascio2019 | Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spe [...] | 2019 | Targeted sequencing | 16
| simplex: 97 | Boccuto et al., 2013 | ASD | 10.1002/mgg3.1036 | 31701662 | |
| Chahrour2012 | Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes i [...] | 2012 | Whole exome sequencing | 64
| Simplex/Multiplex: 16 families | Autism Genetic Resource Exchange | Autism spectrum disorder | 10.1371/journal.pgen.1002635 | 22511880 | |
| Chan2019 | Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants | 2019 | Whole genome sequencing, Whole exome sequencing, Targeted sequencing | 18
| Simplex: 5 | Hospital for Sick Children | Autism spectrum disorder/ Neurodevelopmental Disorder/ Wiedemann-Steiner Syndrome | 10.1038/s41525-019-0083-x | 31044088 | |
| Chan2022 | Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder | 2022 | WGS | 64
| simplex: discovery: 325 cases and 470 parents; repication: 442 cases and 355 unaffected siblings | Canadian children from Newfoundland and Labrador | Autism Spectrum Disorder | https://doi.org/10.1038/s41467-022-34112-z | 36309498 | |
| Chen2017 | Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut [...] | 2017 | Whole exome sequencing | 128
| 116 trios: Family-based | University of Illinois at Chicago ACE project | Autism spectrum disorder | 10.1186/s13229-017-0130-3 | 28344757 | |
| Chen2017a | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEA [...] | 2017 | Targeted sequencing, clinical exome sequencing | 5
| Simplex: 6067 | Baylor Genetics | ASD | 10.1002/humu.23339 | 28940898 | |
| Chen2021 | Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic [...] | 2021 | whole genome sequencing, whole exome sequencing, gene panel, Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA) | 77
| simplex: 154 | Pediatric cohort from Xiangya Hospital, Central South University | Autism spectrum disorder, intellectual disability (ID), global developmental delay (GDD), epilepsy | 10.1016/j.cca.2021.11.014 | 34800434 | |
| Cherot2017 | Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of [...] | 2017 | Medical Exome Sequencing | 4
| Simplex: 216 patients | France | Autism spectrum disorder, non-syndromic intellectual disability, syndromic intellectual disability, pediatric neurodegenerative disorders | 10.1111/cge.13102 | 28708303 | |
| Cirnigliaro2023 | The contributions of rare inherited and polygenic risk to ASD in multiplex families | 2023 | WGS | 13590
| multiplex: 2,136 autistic and 2,395 nonautistic individuals from 1004 families | Autism Genetic Resource Exchange | ASD | 10.1073/pnas.2215632120 | 37506195 | |
| Codina-Sola2015 | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spect [...] | 2015 | Whole exome sequencing | 121
| Simplex, Multiplex: 36 cases/families | Spain | Autism spectrum disorder | 10.1186/s13229-015-0017-0 | 25969726 | |
| Costa2023 | Three generation families: Analysis of de novo variants in autism | 2023 | WES | 37
| simplex: 33 probands and 198 family members | CEGH-CEL | ASD | https://doi.org/10.1038/s41431-023-01398-6 | 37280359 | |
| Cukier2014 | Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and [...] | 2014 | Whole exome sequencing | 518
| Multiplex: 100 cases from 40 families | Florida, South Carolina, Tennessee | Autism spectrum disorder | 10.1186/2040-2392-5-1 | 24410847 | |
| DeRubeis2014 | Synaptic, transcriptional and chromatin genes disrupted in autism | 2014 | Whole exome sequencing | 1694
| Simplex/Case-control: 3871 cases | Simons 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 10K | Autism spectrum disorder | 10.1038/nature13772 | 25363760 | |
| Dingemans2022 | The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major a [...] | 2022 | unknown | 53
| unknown: 106 IDDAM patients | | ID, ASD, macrocephaly | https://doi.org/10.1038/s41398-022-02189-1 | 36182950 | |
| Doan2019 | Recessive gene disruptions in autism spectrum disorder | 2019 | Whole Exome sequencing | 68
| Simplex, Case control: 2343 ASD individuals, 5852 unaffected individuals | Autism Sequencing Consortium (ASC) | ASD | 10.1038/s41588-019-0433-8 | 31209396 | |
| Dong2014 | De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectru [...] | 2014 | Whole exome sequencing | 95
| Simplex: 602 quartets, 185 trios | Simons Simplex Collection | Autism spectrum disorder | 10.1016/j.celrep.2014.08.068 | 25284784 | |
| Dou2017 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and [...] | 2017 | Whole Exome sequencing | 904
| Simplex: 2361 families | Simon Simplex Collection | Autism spectrum disorder | 10.1002/humu.23255 | 28503910 | |
| Du2018 | Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or [...] | 2018 | Whole exome sequencing | 7
| simplex: 80 trios | Department of Developmental Behavioral Pediatric and Children Healthcare at Xinhua Hospital, Shanghai, China | Autism spectrum disorder, suspected autism spectrum disorder | 10.3389/fgene.2018.00594 | 30555518 | |
| Durbagula2024 | Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: fi [...] | 2024 | WES | 980
| simplex: 23 probands and their parents | St John’s Research Institute, Bangalore, Karnataka, India | ASD | 10.1136/gpsych-2024-101606 | 39534727 | |
| D’Gama2015 | Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms | 2015 | Targeted sequencing | 34
| Simplex: 55 postmortem brains, 50 neurotypical controls | Autism BrainNet, SickKids, Harvard, NIH NeuroBioBank | Autism spectrum disorder | 10.1016/j.neuron.2015.11.009 | 26637798 | |
| Feliciano2019 | Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes | 2019 | Whole Exome Sequencing | 717
| Simplex/Multiplex: 457 families with ASD (418 simplex, 39 multiplex) | SPARK | ASD | 10.1038/s41525-019-0093-8 | 31452935 | |
| Fu2022 | Rare coding variation provides insight into the genetic architecture and phenotypic context of autis [...] | 2022 | Whole exome sequencing | 26143
| trios: 15036 cases, 28522 parent and 5492 sibling controls | Autism Sequencing Consortium (ASC), Simons Simplex Collection (SSC), Simons Foundation Powering Autism Research for Knowledge (SPARK) | Autism spectrum disorder | 10.1038/s41588-022-01104-0 | 35982160 | |
| Guo2018 | Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifac [...] | 2018 | Molecular inversion probes | 1721
| Simplex/Multiplex: 3120 cases (2279 from trios/quads) | Autism Clinical and Genetic Resources in China | Autism spectrum disorder | 10.1186/s13229-018-0247-z | 30564305 | |
| Gupta2014 | Rare deleterious mutations of the gene EFR3A in autism spectrum disorders | 2014 | Sanger sequencing, whole exome sequencing | 64
| Simplex: 2196 cases, 3389 controls. | Simons Simplex Collection, ARRA Autism Sequencing Collaboration | Autism spectrum disorder | 10.1186/2040-2392-5-31 | 24860643 | |
| Gupta2023 | Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome s [...] | 2023 | whole exome sequencing | 13
| simplex: 6 probands with parents | Qatar | Autism spectrum disorder | https://doi.org/10.3389/fpsyt.2023.1251884 | | |
| Hashimoto2016 | Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder | 2016 | Whole exome sequencing | 37
| Simplex: 30 trios | Human Brain Phenotype Consortium in Japan | Autism spectrum disorder | 10.1038/jhg.2015.141 | 26582266 | |
| Helsmoortel2014 | A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP | 2014 | Whole exome sequencing, molecular inversion probes, high-resolution melting | 10
| Case-control: 10 cases | Multiple Sources | Autism spectrum disorder, intellectual disability | 10.1038/ng.2899 | 24531329 | |
| Hiatt2019 | Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder | 2019 | Targeted sequencing | 8
| simplex: 7 | Clinical Sequencing Exploratory Research | Autism spectrum disorder | 10.1016/j.ajhg.2019.02.002 | 30879638 | |
| Hu2022 | Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum [...] | 2022 | targeted sequencing | 110
| simplex: 573 | Children's Hospital of Fudan University, Department of Child Health Care | Autism spectrum disorder | 10.3390/genes13061010 | 35741772 | |
| Hu2023 | Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort stud [...] | 2023 | Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study. | 89
| simplex: 160 cases | Children’s Hospital of Fudan University | ASD | https://doi.org/10.3389/fgene.2023.1083779 | 37007974 | |
| Husson2020 | Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and prac [...] | 2020 | Whole exome sequencing | 32
| Simplex: 253 | France | ASD | doi.org/10.1038/s41398-020-0760-7 | 32094338 | |
| Iossifov2012 | De Novo Gene Disruptions in Children on the Autistic Spectrum | 2012 | Whole exome sequencing | 444
| Simplex: 343 quartets | Simons Simplex Collection | Autism spectrum disorder | 10.1016/j.neuron.2012.04.009 | 22542183 | |
| Iossifov2014 | The contribution of de novo coding mutations to autism spectrum disorder | 2014 | Whole exome sequencing | 3386
| Simplex: 2517 families | Simons Simplex Collection | Autism spectrum disorder | 10.1038/nature13908 | 25363768 | |
| Ishay2021 | Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel | 2021 | Whole exome sequencing | 36
| Trios, multiplex: 182 probands | National Autism Research Center of Israel (NARCI) | Autism spectrum disorder | 10.3390/genes13010036 | 35052376 | |
| Ji2016 | Increased burden of deleterious variants in essential genes in autism spectrum disorder | 2016 | Whole exome sequencing | 2056
| Simplex: 1781 quartet | Simons Simplex Collection | Autism spectrum disorder | 10.1073/pnas.1613195113 | 27956632 | |
| Jiang2013 | Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequen [...] | 2013 | Whole genome sequencing | 56
| Simplex: 32 trios | Autism Genetic Resource Exchange | Autism spectrum disorder | 10.1016/j.ajhg.2013.06.012 | 23849776 | |
| Jiao2019 | dentification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Ex [...] | 2019 | Whole Exome Sequencing | 26
| Simplex: 59 trios | Chengdu city | ASD | 10.1007/s12031-019-01456-z | 31838722 | |
| Kenny2014 | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectru [...] | 2014 | Targeted sequencing (215 genes) | 10
| Case-control: 147 autism spectrum disorder cases, 273 schizophrenia cases, 287 controls | Ireland | Autism spectrum disorder, schizophrenia | 10.1038/mp.2013.127 | 24126926 | |
| Khan2024 | Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder | 2024 | WES | 16
| simplex, multiplex: 36 families(119 total; 45 probands) | Pakistan | ASD | 10.1038/s41598-024-57942-x | 38649688 | |
| Kim2020 | Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autis [...] | 2020 | Whole Exome Sequencing | 35
| simplex : 51 probands and their parents | Korean Cohort | Autism Spectrum Disorder | https://dx.doi.org/10.3390/genes12010001 | 33374967 | |
| Kim2024 | Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phen [...] | 2024 | WGS | 46773
| simplex, multiplex: 696 cases, 213 sibilings, 1346 parents | Seoul National University Bundang Hospital, Soon Chun Hyang University Hospital Bucheon and Seoul Child Hospital | ASD | 10.1186/s13073-024-01385-6 | 39334436 | |
| Kosmicki2017 | Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using po [...] | 2017 | Whole exome sequencing | 5829
| Simplex: 3982 ASD cases | Exome Aggregation Consortium, PMID:25363760, PMID:25363768 | Autism spectrum disorder, intellectual disability, developmental delay | 10.1038/ng.3789 | 28191890 | |
| Krgovic2022 | Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism [...] | 2022 | Whole exome sequencing | 53
| simplex, multiplex, trios: 147 | Subset 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 syndrome | 10.3389/fnmol.2022.912671 | 35813072 | |
| Krumm2015 | Excess of rare, inherited truncating mutations in autism | 2015 | Whole exome sequencing | 846
| Simplex: 2377 cases | Simons Simplex Collection | Autism spectrum disorder | 10.1038/ng.3303 | 25961944 | |
| Krupp2017 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder | 2017 | Whole exome sequencing | 1316
| Simplex: 2506 families | Simons Simplex Collection | Autism spectrum disorder | 10.1016/j.ajhg.2017.07.016 | 28867142 | |
| Leblond2019 | Both rare and common genetic variants contribute to autism in the Faroe Islands | 2019 | Whole exome sequencing | 6768
| Case-control, : 36 individuals with autism, 185 controls | Faroe Island | Autism spectrum disorder | 10.1038/s41525-018-0075-2 | 30675382 | |
| Lee2014 | Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins w [...] | 2014 | Whole exome sequencing | 12
| Multiplex: 2 cases | | Autism spectrum disorder | 10.1093/hmg/ddu056 | 24501278 | |
| Lee2020 | Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy | 2020 | Targeted sequencing (4,503 genes) | 22
| simplex: 137 cases | Korean (Severance Children’s Hospital ) cohort | Autism Spectrum Disorder, Epilepsy | doi: 10.3389/fphar.2020.00585 | 32477112 | |
| Lennox2020 | Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development | 2020 | targeted sequencing | 22
| Trios, Simplex: 107 | network of 7 clinical sites | Autism spectrum disorder, Attention-deficit/hyperactivity disorder, Depression, Obsessive-compulsive disorder, Anxiety | 10.1016/j.neuron.2020.01.042 | 32135084 | |
| Li2017 | Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au [...] | 2017 | Targeted sequencing, whole genome sequencing | 508
| Simplex: 536 trios | Autism Clinical and Genetic Resources in China | Autism spectrum disorder | 10.1038/mp.2017.140 | 28831199 | |
| Lim2017 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder | 2017 | Whole exome sequencing | 3462
| Simplex: 5947 trios | Autism Sequencing Consortium, Simons Simplex Collection, BCH, Broad_v8, Broad_v11, Finnish, Frankfurt, MSSM, Sanger, Upenn, VU | Autism spectrum disorder | 10.1038/nn.4598 | 28714951 | |
| Lo2022 | Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variant [...] | 2022 | targeted sequencing | 17
| Case-control: 185 ASD, 432 SCZ, 517 controls | Nagoya University Hospital and co-hospitals in Japan | Autism spectrum disorder, schizophrenia | 10.1080/09540261.2022.2072193 | 35699097 | |
| Lob2024 | Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with [...] | 2024 | WES, targeted | 46
| : 523 probands | Children’s Neurodevelopmental Center of Hasbro Children’s Hospital in Providence | ASD, epilepsy | https://doi.org/10.1007/s10803-024-06512-1 | 39136901 | |
| Long2019 | The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese C [...] | 2019 | Targeted sequencing, Whole exome sequencing | 33
| Simplex: 103 cases | Chinese children | Autism spectrum disorder/ Epilepsy | 10.3389/fneur.2019.00505 | 31139143 | |
| Lowther2023 | Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder [...] | 2023 | WGS | 51
| simplex: 1612 probands with their families | Simons Simplex Collection | ASD | 10.1016/j.ajhg.2023.07.010 | 37595579 | |
| Mahjani2021 | Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder | 2021 | whole exome sequencing | 155
| Simplex: 808 cases | PAGES | Autism spectrum disorder | 10.1186/s13229-021-00465-3 | 34615535 | |
| Marques2022 | Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder | 2022 | Whole exome sequencing, targeted sequencing | 297
| simplex: 1828 cases | Autism Sequencing Consortium (490 ASD cases sequenced at Baylor College of Medicine, 1338 at Broad Institute) | Autism spectrum disorder | 10.3390/biomedicines10030665 | 35327467 | |
| Michaelson2012 | Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation | 2012 | Whole genome sequencing | 632
| Multiplex: 10 identical twins (quartets) | NIMH Repository and Genomics Resource | Autism spectrum disorder | 10.1016/j.cell.2012.11.019 | 23260136 | |
| Miyake2023 | Molecular diagnosis of 405 individuals with autism spectrum disorder | 2023 | WES | 55
| trios and quads: 405 probands and their parents | multi-centre cohort from Japan | ASD | 10.1038/s41431-023-01335-7 | 36973392 | |
| Montenegro2019 | Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian [...] | 2019 | Whole Exome Sequencing | 19
| simplex: 30 trios | Brazilian cohort | ASD | 10.1002/aur.2238 | 31696658 | |
| More2023 | Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and [...] | 2023 | WGS | 43
| multiplex: 76 ASD, 36 controls | 21 highly multiplex families (3 or more individuals affected in the immediate family) | Autism Spectrum Disorder | 10.1038/s41380-022-01938-4 | 36702863 | |
| Moreno-Ramos2015 | Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation [...] | 2015 | Whole exome sequencing | 4
| Simplex: 4 trios | Liga Colombiana de Autismo | Autism spectrum disorder | 10.1371/journal.pone.0135927 | 26352270 | |
| Murdoch2015 | No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated [...] | 2015 | Targeted next-generation sequencing | 48
| Simplex: 1332 cases | Simons Simplex Collection | Autism spectrum disorder | 10.1371/journal.pgen.1004852 | 25621974 | |
| Nakajima2014 | De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, a [...] | 2014 | Whole exome sequencing | 2
| Simplex: 2 cases | | Autism spectrum disorder, epilepsy, intellectual disability | 10.1111/cge.12394 | 24697219 | |
| Neale2012 | Patterns and rates of exonic de novo mutations in autism spectrum disorders | 2012 | Whole exome sequencing | 176
| Simplex/Multiplex: 175 trios | Boston’s Autism Consortium, University of Illinois at Chicago, Mount Sinai School of Medicine, Vanderbilt University, University of Pittsburgh School of Medicine, Autism Genetic Resource Exchange | Autism spectrum disorder | 10.1038/nature11011 | 22495311 | |
| Ohashi2021 | Comprehensive Genetic Analysis of Non‑syndromic Autism Spectrum Disorder in Clinical Settings | 2021 | Whole-exome sequencing and Targeted sequencing | 9
| simplex: 48 | Nagoya City University Hospital | Autism Spectrum Disorder (Non-Syndromic) | https://doi.org/10.1007/s10803-021-04910-3 | 33590427 | |
| O’Roak2012a | Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders | 2012 | Multiplex targeted sequencing (44 genes) | 68
| Simplex: 2446 cases | Simons Simplex Collection | Autism spectrum disorder | 10.1126/science.1227764 | 23160955 | |
| O’Roak2012b | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations | 2012 | Whole exome sequencing | 243
| Simplex: 189 trios | Simons Simplex Collection | Autism spectrum disorder | 10.1038/nature10989 | 22495309 | |
| O’Roak2014 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk | 2014 | Molecular inversion probes (64 genes) | 154
| Simplex: 3486 cases | Simons Simplex Collection, The Autism Simplex Collection, PMID:23033978, PMID:22495311, PMID:23020937 | Autism spectrum disorder, intellectual disability | 10.1038/ncomms6595 | 25418537 | |
| Patowary2019 | Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene | 2019 | Whole exome sequencing | 144
| Case-control: 26 families, 61 subjects | NIMH repository | Autism spectrum disorder | 10.1038/s41398-018-0343-z | 30664616 | |
| Ruzzo2019 | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | 2019 | Whole genome sequencing | 6209
| Multiplex: 493 multiplex ASD families (960 ASD individuals) | iHart | ASD | 10.1016/j.cell.2019.07.015 | 28325891 | |
| Sanchis-Juan2023 | Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental di [...] | 2023 | WGS | 13
| simplex: 489 affected individuals and 203 unaffected relatives (25 ASD) | National Institute for Health and Care Research BioResource project | ASD, ID, epilepsy, … | 10.1016/j.ajhg.2023.07.007 | 37541188 | |
| Sanders2012 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism | 2012 | Whole exome sequencing | 96
| Simplex: 225 families | Simons Simplex Collection | Autism spectrum disorder | 10.1038/nature10945 | 22495306 | |
| Sandoval-Talamantes2023 | NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clin [...] | 2023 | Targeted sequencing | 23
| simplex: 48 cases | La Paz University Hospital in Madrid, Spain | ASD, Asperger, ID, epilepsy | 10.3390/genes14112091 | 38003033 | |
| Sands2019 | Autism and developmental disability caused by KCNQ3 gain-of-function variants | 2019 | Targeted sequencing, Whole Exome Sequencing | 7
| Case-only: 11 | Baylor College of Medicine | ASD | 10.1002/ana.25522 | 31177578 | |
| Satterstrom2020 | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neuro [...] | 2020 | Whole Exome Sequencing | 12160
| 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 2018 | ASD | 10.1016/j.cell.2019.12.036 | 31981491 | |
| Schaaf2011 | Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders | 2011 | Targeted sequencing | 104
| Simplex: 339 | Simons Simplex Collection | Autism spectrum disorder | 10.1093/hmg/ddr243 | 21624971 | |
| Shi2013 | Whole-genome sequencing in an autism multiplex family | 2013 | Whole genome sequencing | 118
| Multiplex: 2 cases | Autism Genetic Resource Exchange | Autism spectrum disorder | 10.1186/2040-2392-4-8 | 23597238 | |
| Sleyp2022 | De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder w [...] | 2022 | WGS, WES and targeted but only KLHL20 variants reported | 3
| simplex: 3 ASD/ID and 11 ID | Matchmaker Exchange | ASD, ID, epilepsy, hyperactivity, dysmorphic facial features | doi.org/10.1016/j.gim.2022.08.020 | 36214804 | |
| Stessman2017 | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development [...] | 2017 | Targeted sequencing (208 genes) | 732
| Simplex/Multiplex/Cases: 6342 | Autism Clinical and Genetic Resources in China, Autism Genetic Resource Exchange, Autism Phenome Project, Leuven, Melbourne, Murdoch, San Diego, The Autism Simplex Collection | Autism Spectrum Disorder, Intellectual Disability, Developmental Delay | 10.1038/ng.3792 | 28191889 | |
| Takata2018 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di [...] | 2018 | Whole exome sequencing | 327
| Simplex: 262 trios | Japan | Autism spectrum disorder | 10.1016/j.celrep.2017.12.074 | 29346770 | |
| Tammimies2015 | Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children [...] | 2015 | Whole exome sequencing | 96
| Simplex/Multiplex: 95 trios | Newfoundland and Labrador | Autism spectrum disorder | 10.1001/jama.2015.10078 | 26325558 | |
| Tan2024 | Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay | 2024 | WGS, WES | 8431
| simplex,multiplex: 5048 probands and 4090 siblings | SPARK, SSC, ASC, MSSNG | ASD | 10.1038/s41380-024-02806-z | 39472663 | |
| Toma2013 | Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating muta [...] | 2013 | Whole exome sequencing | 220
| Multiplex: 10 families | Spain | Autism spectrum disorder | 10.1038/mp.2013.106 | 23999528 | |
| Torti2019 | Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of lit [...] | 2019 | Targeted sequencing | 27
| Simplex: 18 cases | GeneDx, GeneMatcher | Autism spectrum disorder/ Developmental Delay/ Intellectual disability | 10.1038/s41436-019-0454-9 | 30739909 | |
| Tran2020 | Genetic landscape of autism spectrum disorder in Vietnamese children | 2020 | Whole exome sequencing | 18
| Simplex: 100 | Vietnam | ASD | doi.org/10.1038/s41598-020-61695-8 | 32193494 | |
| Trost2022 | Genomic architecture of autism from comprehensive whole-genome sequence annotation | 2022 | WGS | 144111
| simplex, multiplex: 5,100 ASD and 6,212 non-ASD parents and siblings from MSSNG | MSSNG, SSC | ASD | 10.1016/j.cell.2022.10.009 | 36368308 | |
| Tuncay2023 | The genetics of autism spectrum disorder in an East African familial cohort | 2023 | WGS | 278
| simplex and multiplex: 36 probands with parents (129 in total) | individuals with East African ancestry | ASD | https://doi.org/10.1016/j.xgen.2023.100322 | | |
| Turner2016 | Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN [...] | 2016 | Whole genome sequencing | 3790
| Simplex: 53 families | Simons Simplex Collection | Autism spectrum disorder | 10.1016/j.ajhg.2015.11.023 | 26749308 | |
| Turner2017 | Genomic Patterns of De Novo Mutation in Simplex Autism | 2017 | Whole genome sequencing, whole exome sequencing | 43
| Simplex: 476 families | Simons Simplex Collection | Autism spectrum disorder | 10.1016/j.cell.2017.08.047 | 28965761 | |
| Uddin2014 | Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectru [...] | 2014 | Whole exome sequencing | 56
| Simplex: 56 cases, 17 sibling | Simons Simplex Collection | Autism spectrum disorder | 10.1038/ng.2980 | 24859339 | |
| Vaags2012 | Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder | 2012 | Targeted exome sequencing | 8
| Simplex/Multiplex: 4 families | | Autism spectrum disorder | 10.1016/j.ajhg.2011.11.025 | 22209245 | |
| Valentino2021 | Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Prese [...] | 2021 | Whole Exome Sequencing | 11
| Simplex, Multiplex: 116 ID/ASD and 84 ID probands | 200 enrolled families with at least one proband, totaling 574 individuals | Intelectual Disability, Autism Spectrum Disorder | 10.3390/brainsci11070936 | 34356170 | |
| vanBon2015 | Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID | 2015 | Targeted resequencing (1 gene) | 6
| Simplex: 7162 | Simons Simplex Collection, Radboud University Medical Center, Troina, Leuven, Murdoch CRI, PMID:23099646, PMID:25167861 | Autism spectrum disorder, intellectual disability | 10.1038/mp.2015.5 | 25707398 | |
| Viggiano2022 | Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility | 2022 | whole genome sequencing, targeted sequencing | 105
| multiplex, trios: 124 cases, 210 parents, 58 unaffected siblings | UOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche (Bologna, Italy) | Autism spectrum disorder | 10.3389/fpsyt.2022.858238 | 35350424 | |
| Viggiano2024 | Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candid [...] | 2024 | WES/WGS | 80
| simplex/multiplex: 144 cases, 291 family members | UOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy | Autism Spectrum Disorder | 10.1038/s41525-024-00411-1 | 38519481 | |
| Wang2016 | De novo genic mutations among a Chinese autism spectrum disorder cohort | 2016 | Molecular inversion probe (189 genes) | 770
| Simplex/Unknown: 1543 (1045 from trios) | State Key Laboratory of Medical Genetics of China | Autism spectrum disorder | 10.1038/ncomms13316 | 27824329 | |
| Wang2020 | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | 2020 | targeted sequencing | 1891
| trios, case-control: 23440 ASD, 16491 DD/ID, 12000-14000 NDD, 45356 controls | Autism 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 Disorder | 10.1038/s41467-020-18723-y | 33004838 | |
| Wang2023 | https://doi.org/10.1016/j.biopsych.2023.06.025 | 2023 | WES | 708
| simplex: 772 probands | Xinhua Hospital, China | ASD | https://doi.org/10.1016/j.biopsych.2023.06.025 | 37393044 | |
| Wen2017 | Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation | 2017 | Whole Exome Sequencing | 6
| Simplex: 120 ASD patients | Shanghai Mental Health Center of Shanghai Jiao Tong University | ASD | 10.1186/s13229-017-0157-5 | 28785396 | |
| Werling2018 | An analytical framework for whole-genome sequence association studies and its implications for autis [...] | 2018 | Whole genome sequencing | 339
| Simplex: 519 ASD families | Simons Simplex Collection | Autism spectrum disorder | 10.1038/s41588-018-0107-y | 29700473 | |
| Wilfert2021 | Recent ultra-rare inherited variants implicate new autism candidate risk genes | 2021 | Whole Genome Sequencing | 1918
| multiplex, simplex: 4364 probands and 2235 siblings | Individuals enrolled in the Autism Genetic Resource Exchange, The Autism Simplex Collection, the Study of Autism Genetics Exploration and Simons Simplex Collection | Autism Spectrum Disorder | https://doi.org/10.1038/s41588-021-00899-8 | 34312540 | |
| Willsey2013 | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis [...] | 2013 | Whole exome sequencing | 147
| Simplex/Multiplex: 1,043 families (599 quartets, 444 trios) | Simons Simplex Collection, PMID:22542183, PMID:23160955, PMID:22495309, PMID:22495311, PMID:22914163 | Autism spectrum disorder | 10.1016/j.cell.2013.10.020 | 24267886 | |
| Woodbury-Smith2022 | Mutational Landscape of Autism Spectrum Disorder Brain Tissue | 2022 | Whole exome sequencing | 200
| simplex: 26 probands | Harvard Brain Tissue Resource Center (HBTRC) | Autism spectrum disorder, Angelman Syndrome | 10.3390/genes13020207 | 35205252 | |
| Wright2024 | Return of genetic research results in 21,532 individuals with autism | 2024 | WES | 1128
| simplex: 21,532 probands and 17,785 parents | SPARK | ASD | https://doi.org/10.1016/j.gim.2024.101202 | 38958063 | |
| Wu2018 | Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing [...] | 2014 | Whole genome sequencing | 2210
| Simplex: 32 Chinese trios | Children's Hospital of Fudan University, Second Xiangya Hospital of Central South University | Autism spectrum disorder | 10.1016/j.jgg.2018.09.002 | 30392784 | |
| Wu2019 | Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum dis [...] | 2019 | Whole Exome Sequencing | 18
| Simplex/ Case-control: 58 trios, nine simplex quads, 210 individuals | Autism Clinical and Genetic Resources | ASD | 10.1111/cge.13665 | 31674007 | |
| Xiong2019 | Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes | 2019 | Whole exome sequencing, targeted sequencing | 51
| simplex: 50 ASD, 108 non-ASD | Pediatric department of Xiangya Hospital at Central South University (2014-2018) | Autism spectrum disorder, Epileptic encephalopathy, Intellectual disability, Epilepsy, Dravet syndrome, Tuberous sclerosis complex, Global developmental delay, Lowe syndrome, Rett syndrome | 10.3389/fnins.2019.00349 | 31031587 | |
| Yalcintepe2021 | Investigation the etiology of syndromic autism with targeted gene analysis | 2021 | targeted sequencing | 14
| simplex: 49 probands | Department of Child Psychiatry, Faculty of Medicine, Edirne, Turkey | Autism spectrum disorder, epilepsy, intellectual disability, ADHD, CHARGE syndrome, Rett Syndrome, dyslexia | 10.5455/annalsmedres.2021.03.240 | | |
| Yamamoto2019 | Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders | 2019 | Targeted sequencing | 10
| Simplex: 54 ASD | Japanese patients | Autism spectrum disorder, intellectual disability, developmental delay, epilepsy | 10.1016/j.braindev.2019.05.007 | 31171384 | |
| Yin2020 | Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression | 2020 | Targeted sequencing | 18
| simplex: 134 | cohort from a specialized central medical center in Moscow, Russia | Austism Spectrum Disorder | https://www.mdpi.com/2073-4425/11/8/853 | 32722525 | |
| Yu2013 | Using Whole-Exome Sequencing to Identify Inherited Causes of Autism | 2013 | Whole exome sequencing | 20
| Simplex/Multiplex: 277 cases | Homozygosity Mapping Collaborative for Autism | Autism spectrum disorder | 10.1016/j.neuron.2012.11.002 | 23352163 | |
| Yuan2023 | Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome S [...] | 2023 | Whole Exome Sequencing | 221
| trios: 369 trios (369 ASD probands and 706 parents from 353 families) | Shanghai Mental Health Center | Autism Spectrum Disorder | 10.1007/s12264-023-01037-6 | 36881370 | |
| Yuen2015 | Whole-genome sequencing of quartet families with autism spectrum disorder | 2015 | Whole genome sequencing | 204
| Multiplex: 170 cases (85 quartet families) | Canada | Autism spectrum disorder | 10.1038/nm.3792 | 25621899 | |
| Yuen2016 | Genome-wide characteristics of de novo mutations in autism | 2016 | Whole genome sequencing | 11088
| Simplex: 200 trios | Canadian ASD families | Autism spectrum disorder | 10.1038/npjgenmed.2016.27 | 27525107 | |
| Yuen2017 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | 2017 | Whole genome sequencing | 140304
| Simplex/Multiplex: 2626 | Autism 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 disorder | 10.1038/nn.4524 | 28263302 | |
| Zhang2023 | Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic t [...] | 2023 | WGS | 10
| simplex: 354 probands | Beijing Children’s Hospital | ASD | 10.3389/fgene.2023.1108440 | 37035742 | |
| Zhao2019 | Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development | 2019 | Targeted sequencing | 79
| Case-control: 2926 individuals, 45376 controls | Autism Clinical and Genetic Resources in China | Autism Spectrum Disorder | 10.1016/j.jgg.2019.04.002 | 31196716 | |
| Zhou2019 | Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveal [...] | 2019 | Targeted sequencing | 18
| Case control: 539 cases, 512 controls | Chinese cohort | Autism spectrum disorder | 10.1002/humu.23724 | 30763456 | |
| Zhou2022 | Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new modera [...] | 2022 | Whole exome sequencing, Whole genome sequencing | 23922
| trios: 42607 cases | Simons Simplex Cohort, Autism Sequencing Cohort, SPARK, MSSNG | Autism spectrum disorder | 10.1038/s41588-022-01148-2 | 35982159 | |