ArticleNature genetics2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Open access · greenAbstract read
In one paragraph
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 350 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
350citing papers in PubMed, 1 pooled it
31.1field-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
350 citing papers in PubMed, 1 synthesis or guideline pooled it, 571 citations in OpenAlex.
- Meta-analysis of activated neurons reveals dynamic regulation of diverse classes of alternative splicing.Genome research · 2025Pooled it
- Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences.Molecular psychiatry · 2026Article
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study.Journal of magnetic resonance imaging : JMRI · 2026Article
- Article
- Male-Biased Social Deficits in Chd8Neuroscience bulletin · 2026Article
- Mitochondrial dysfunction underlies cardiac contractility and growth defects in a zebrafish model ofbioRxiv : the preprint server for biology · 2026Article
- Temporal neuronal differentiation programs safeguard neuronal diversity.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Diminished activity-dependent neuroprotective protein (ADNP) contributes to complement gene elevation in Alzheimer's disease.Journal of Alzheimer's disease : JAD · 2026Article
- Dynamical modeling of individual sensory reactivity and habituation learning.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.Brain : a journal of neurology · 2026Article
- Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach.Noro psikiyatri arsivi · 2026Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- KMT5B in Cancerous and Noncancerous Diseases: Clinical and Mechanical Considerations.International journal of medical sciences · 2026Review
- Synaptic mechanisms for differential severity of social preference deficits in male and female mice induced by diminished activity-dependent BDNF.Frontiers in neuroscience · 2026Article
- Histone demethylase KDM6B promotes postnatal oligodendrocyte maturation and cortical myelination.Frontiers in cellular neuroscience · 2026Article
- Rare coding variation in OCD implicates shared genes with other psychiatric disorders.medRxiv : the preprint server for health sciences · 2025Article
- Article
290 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
53 authors at 15 institutions in 7 countries.
Holly A F StessmanDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.ORCID http://orcid.org/0000-0002-0764-3493
Bo XiongDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Bradley P CoeDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Tianyun WangState Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Michaela FenckovaDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Malin KvarnungDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Jennifer GerdtsDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
Sandy TrinhDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
Nele CosemansCentre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.
Laura VivesDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Janice LinDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Tychele N TurnerDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Gijs SantenDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Claudia RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Marjolein KriekDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Arie van HaeringenDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Emmelien AtenDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Kathryn FriendSchool of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
Jan LiebeltSouth Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia.
Christopher BarnettSouth Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia.
Eric HaanSchool of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
Marie ShawSchool of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
Jozef GeczSchool of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0002-7884-6861
Britt-Marie AnderlidDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Ann NordgrenDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Anna LindstrandDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Charles SchwartzCenter for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.
R Frank KooyDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-2024-0485
Geert VandeweyerDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Celine HelsmoortelDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Corrado RomanoUnit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.ORCID http://orcid.org/0000-0003-1049-0683
Antonino AlbertiUnit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
Mirella VinciLaboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
Emanuela AvolaUnit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
Stefania GiustoUnit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
Eric CourchesneDepartment of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
Tiziano PramparoDepartment of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
Karen PierceDepartment of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
Srinivasa NalaboluDepartment of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
David G AmaralMIND Institute and the University of California Davis School of Medicine, Sacramento, California, USA.
Ingrid E SchefferDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.
Martin B DelatyckiDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.
Paul J LockhartDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0003-2531-8413
Fereydoun HormozdiariDepartment of Biochemistry and Molecular Medicine, University of California, Davis, Davis, California, USA.
Benjamin HarichDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Anna Castells-NobauDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Kun XiaState Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Hilde PeetersCentre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.
Magnus NordenskjöldDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Annette SchenckDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
University of Washington · USKarolinska University Hospital · SELeiden University Medical Center · NLOasi Maria SS · ITSouth Australia Pathology · AURadboud University Nijmegen · NLUniversity of California San Diego · USRoyal Children's Hospital · AUUniversity of Antwerp · BECentral South University · CNKU Leuven · BEUniversity of California, Davis · USGreenwood Genetic Center · USHoward Hughes Medical Institute · USWomen's and Children's Hospital · AU
Funding
INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2MUC San Diego Clinical and Translational Research InstituteKL2TR001444 · NCATS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DEPP, COLIN A. · 2015 to 2024
$15.4MResource Component: Acquisition, maintenance and distribution of Drosophila stocksP40OD018537 · OD · TRUSTEES OF INDIANA UNIVERSITY · PI Cale Whitworth · 2014 to 2026
$13.5MSporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MCenter for Genomic and Phenomic Studies in AutismU24MH081810 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LAJONCHERE, CLARA M · 2007 to 2011
$8.3MIntellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GARDEN, GWENN A · 2014 to 2019
$7.9MSan Diego Clinical and Translational Research InstituteKL2TR000099 · NCATS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI FIRESTEIN, GARY S · 2012 to 2014
$1.1MHoward Hughes Medical InstituteNCATS NIH HHS KL2 TR000099NCATS NIH HHS KL2 TR001444NHGRI NIH HHS T32 HG000035NICHD NIH HHS U54 HD083091NIH HHS P40 OD018537NIMH NIH HHS R01 MH101221NIMH NIH HHS U24 MH081810
Abstract
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
Indexed as
Autistic DisorderDevelopmental DisabilitiesFemaleHumansIntellectual DisabilityMaleMutationPhenotype
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
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.