ArticleNature genetics2019
Recessive gene disruptions in autism spectrum disorder.
Open access · greenAbstract read
In one paragraph
Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
97citing papers in PubMed, 2 pooled it
12.0field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
97 citing papers in PubMed, 2 syntheses or guidelines pooled it, 174 citations in OpenAlex.
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
- Pooled it
- Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University.Pediatric research · 2026Article
- Decomposing the genetic risk of autism spectrum disorder into discrete molecular subtypes underlie clinical heterogeneity based on transcriptome profile.Journal of translational medicine · 2026Article
- Interlocked transcription factor feedback loops maintain and restore adult touch sensation.Cell reports · 2026Article
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Patient-derived brain organoids reveal divergent neuronal activity across subpopulations of autism spectrum disorder.Translational psychiatry · 2026Article
- Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Genes · 2026Article
- Estradiol modulates neuronal network hyperexcitability in select NDD risk genes.bioRxiv : the preprint server for biology · 2026Article
- Article
- Cell type-specific functions of the PBAF chromatin-remodeling complex in neuronal diversification.Nature communications · 2025Article
- Multi-omics reveals cross-tissue regulatory mechanisms of autism risk loci via gut microbiota-immunity-brain axis.AMB Express · 2025Article
- Transcriptomic Convergence and the Female Protective Effect in Autism.bioRxiv : the preprint server for biology · 2025Article
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology.Autism research : official journal of the International Society for Autism Research · 2025Article
- Knockout of the V-ATPase interacting protein Tldc2 in B-type kidney intercalated cells impairs urine alkalinization.American journal of physiology. Renal physiology · 2025Article
- Article
- Recessive genetic contribution to congenital heart disease in 5,424 probands.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Spatial regulation of NSUN2-mediated tRNA m5C installation in cognitive function.Nucleic acids research · 2025Article
37 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 8 institutions in 4 countries.
Ryan N DoanDivision of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Elaine T LimDivision of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3651-0654
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Catalina BetancurNeuroscience Paris Seine, Institut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS, Paris, France.ORCID http://orcid.org/0000-0002-3327-4804
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Andreas G ChiocchettiDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt, Germany.
Lynne M OvermanHuman Developmental Biology Resource, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle-upon-Tyne, UK.
Aubrie SoucyDivision of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8633-0032
Susanne GoetzeDivision of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Autism Sequencing Consortium
Christine M FreitagDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt, Germany.
Mark J DalyHarvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Christopher A WalshDivision of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0156-2238
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Timothy W YuDivision of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.ORCID http://orcid.org/0000-0003-2988-7701
Boston Children's Hospital · USBroad Institute · USGoethe University Frankfurt · DEAllen Institute for Brain Science · USCentre for Life · GBCentre National de la Recherche Scientifique · FRChild Health and Development Institute · USEmory University · US
Funding
Finding Autism Genes by Genomic Copy Number AnalysisR01MH083565 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2007 to 2016
$6.9MGenome Sequence-Based Screening for Childhood Risk and Newborn IllnessU19HD077671 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI BEGGS, ALAN H., GREEN, ROBERT C. · 2013 to 2018
$6.1MFUNDAMENTAL NEUROBIOLOGYT32NS007484 · NINDS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI REGEHR, WADE G · 2000 to 2014
$5.9MPopulation-Based Autism Genetics & Environment StudyR01MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2014 to 2022
$5.2MHuman autism genetics and activity dependent gene activationRC2MH089952 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2009 to 2010
$5.1MOrchestra: A high performance biomedical supercomputing collaborativeS10RR028832 · NCRR · HARVARD MEDICAL SCHOOL · PI DANUSER, GAUDENZ · 2010 to 2010
$3.7M4/4 The Autism Sequencing Consortium: Autism gene discovery in the >20,000 exomes (supplement)U01MH100239 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2013 to 2015
$3.0M1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111661 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2017 to 2021
$2.6M1/4-The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomesU01MH100233 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2013 to 2015
$2.5MThe Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111660 · NIMH · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH · 2017 to 2021
$2.3MComplete gene knockouts in autism: identification and functional characterizationR01MH113761 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI YU, TIMOTHY WEI-WEN · 2017 to 2021
$2.2M3/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111658 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DEVLIN, BERNIE · 2017 to 2021
$2.0MMedical Research Council MR/R006237/1NCRR NIH HHS S10 RR028832NICHD NIH HHS U19 HD077671NICHD NIH HHS U24 HD093487NIMH NIH HHS R01 MH083565NIMH NIH HHS R01 MH097849NIMH NIH HHS R01 MH113761NIMH NIH HHS R56 MH097849NIMH NIH HHS RC2 MH089952NIMH NIH HHS U01 MH100209NIMH NIH HHS U01 MH100229NIMH NIH HHS U01 MH100233NIMH NIH HHS U01 MH100239NIMH NIH HHS U01 MH111658NIMH NIH HHS U01 MH111660NIMH NIH HHS U01 MH111661NIMH NIH HHS U01 MH111662NINDS NIH HHS T32 NS007484Wellcome Trust
Abstract
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals
Indexed as
Allelic ImbalanceGenetic Predisposition to DiseaseMutation, MissenseAutism Spectrum DisorderCase-Control StudiesCohort StudiesExome SequencingFemaleGenes, RecessiveGenome, HumanHumansMale
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.