ArticleNature genetics2022
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
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Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 307 papers, 1 of them a synthesis that pooled it.
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307citing papers in PubMed, 1 pooled it
46.4field-weighted citation impact, top 1% of its field
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Who cites it
307 citing papers in PubMed, 1 synthesis or guideline pooled it, 431 citations in OpenAlex.
- Social Communication in Ras Pathway Disorders: A Comprehensive Review From Genetics to Behavior in Neurofibromatosis Type 1 and Noonan Syndrome.Biological psychiatry · 2025Pooled it
- A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.Genome medicine · 2026Trial
- Evidence supporting the role of GIGYF2 in synapse development and autism.Molecular psychiatry · 2026Article
- Neuropsychiatry genetics in Africa.Nature communications · 2026Review
- Mosaicism for Cohen-Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay.Molecular genetics & genomic medicine · 2026Article
- A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.American journal of human genetics · 2026Article
- Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.Molecular psychiatry · 2026Article
- Data from the ROPAD study corroborate an association between ITSN1 loss-of-function variants and Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Peroxisomal Import Stress Drives Cellular Senescence through SCAF1-dependent Suppression of Mitoribosome Biogenesis.bioRxiv : the preprint server for biology · 2026Article
- Review
- Elucidating the role of DEAF1 in neurodevelopment and shared molecular pathways in high-risk autism genes using cortical organoids.Science advances · 2026Article
- Systematic CRISPRi perturbation of 1,408 autism risk genes maps multilevel transcriptional convergence in human cortical neurons.bioRxiv : the preprint server for biology · 2026Article
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- Whole-exome sequencing in individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes.Nature neuroscience · 2026Article
- Article
- Loss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.Biological psychiatry · 2026Article
- SIMLINK enables accurate variant pathogenicity prediction through modeling the gene-variant-feature association structure.Bioinformatics (Oxford, England) · 2026Article
- Inflammation increases the penetrance of behavioral impairment in Shank3 haploinsufficiency mice - can it explain the behavioral regression in Autism?Molecular psychiatry · 2026Article
- Single-cell proteomic landscape of the developing human brain.Nature biotechnology · 2026Article
- Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing.International journal of molecular sciences · 2026Article
247 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 20 institutions in 3 countries.
Xueya Zhou *Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Pamela Feliciano *Simons Foundation, New York, NY, USA.ORCID http://orcid.org/0000-0003-4266-1301
Chang Shu *Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-3730-5102
Tianyun Wang *Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-5179-087X
Irina Astrovskaya *Simons Foundation, New York, NY, USA.ORCID http://orcid.org/0000-0001-5328-4631
Jacob B HallSimons Foundation, New York, NY, USA.
Joseph U ObiajuluDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-9240-789X
Jessica R WrightSimons Foundation, New York, NY, USA.
Shwetha C MuraliDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Simon Xuming XuSimons Foundation, New York, NY, USA.
Leo BrueggemanDepartment of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Taylor R ThomasDepartment of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Olena MarchenkoSimons Foundation, New York, NY, USA.
Christopher FleischSimons Foundation, New York, NY, USA.
Sarah D BarnsSimons Foundation, New York, NY, USA.
LeeAnne Green SnyderSimons Foundation, New York, NY, USA.
Bing HanSimons Foundation, New York, NY, USA.
Timothy S ChangProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-9225-9874
Tychele N TurnerDepartment of Genetics, Washington University, St. Louis, MO, USA.ORCID http://orcid.org/0000-0001-8246-6477
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Andrew NishidaDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
Brian J O'RoakDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
Daniel H GeschwindProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-2896-3450
SPARK Consortium
Jacob J MichaelsonDepartment of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.ORCID http://orcid.org/0000-0001-9713-0992
Natalia VolfovskySimons Foundation, New York, NY, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Yufeng ShenDepartment of Systems Biology, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-1299-5979
Wendy K ChungDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA. wkc15@columbia.edu.ORCID http://orcid.org/0000-0003-3438-5685
Simons Foundation · USRush University Medical Center · USUniversity of Minnesota · USKennedy Krieger Institute · USMedical University of South Carolina · USUniversity of California San Diego · USUniversity of Miami · USCincinnati Children's Hospital Medical Center · USNationwide Children's Hospital · USUniversity of California, Los Angeles · USBoston Children's Hospital · USOregon Health & Science University · USUniversity of Michigan · USUniversity of Washington · USUniversity of North Carolina Health Care · USEmory University · USVanderbilt University Medical Center · USUniversity of California, Davis · USUniversity of Colorado Denver · USUniversity of Missouri · US
Funding
WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JEFFREY D MILBRANDT · 2020 to 2026
$15.5MOverall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jeffrey L Neul · 2020 to 2026
$10.3MSporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MUniversity of Iowa Hawkeye Intellectual and Developmental Disabilities Research Center (Hawk-IDDRC)P50HD103556 · NICHD · UNIVERSITY OF IOWA · PI EDWIN TED G. ABEL, Lane Strathearn · 2021 to 2026
$8.5MMedical Scientist Training ProgramT32GM139776 · NIGMS · UNIVERSITY OF IOWA · PI Gordon F Buchanan · 2021 to 2026
$6.4MPREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008629 · NIGMS · UNIVERSITY OF IOWA · PI EBERL, DANIEL F · 1997 to 2021
$4.1MUnderstanding the biology of language impairment through whole genome sequencingR01DC014489 · NIDCD · UNIVERSITY OF IOWA · PI MICHAELSON, JACOB JAMES · 2016 to 2020
$3.1MDisrupted eye gaze perception as a biobehavioral marker of social dysfunction: An RDoC investigationR01MH122491 · NIMH · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI TSO, IVY FEI · 2020 to 2024
$2.9MIntegrate cancer genomics data in geneticstudies and diagnosis of developmental disordersR01GM120609 · NIGMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SHEN, YUFENG · 2017 to 2021
$1.7MEstimating the impact of genetic variants on the brain in space and timeR01MH105527 · NIMH · UNIVERSITY OF IOWA · PI MICHAELSON, JACOB JAMES · 2015 to 2017
$1.2MPhenotype-Genotype Studies in Non-Human Primate Model of Social BehaviorZIAHG200411 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GUNTER, CHRISTIE · 2021 to 2025
$604kNature and contribution of noncoding, regulatory mutations in neurodevelopmental disordersK99MH117165 · NIMH · UNIVERSITY OF WASHINGTON · PI TURNER, TYCHELE NAOMI · 2018 to 2018
$92kHoward Hughes Medical InstituteNICHD NIH HHS P50 HD103525NICHD NIH HHS P50 HD103537NICHD NIH HHS P50 HD103556NIDCD NIH HHS R01 DC014489NIGMS NIH HHS R01 GM120609NIGMS NIH HHS T32 GM008629NIGMS NIH HHS T32 GM139776NIMH NIH HHS K99 MH117165NIMH NIH HHS R01 MH101221NIMH NIH HHS R01 MH105527NIMH NIH HHS R01 MH122491
Abstract
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P < 2.5 × 10
Indexed as
Autism Spectrum DisorderAutistic DisorderExomeExome SequencingForkhead Transcription FactorsGenetic Predisposition to DiseaseHumansMutationRepressor ProteinsForkhead Transcription FactorsFOXP1 protein, humanRepressor Proteins
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