ArticleScience (New York, N.Y.)2018
Quantifying the contribution of recessive coding variation to developmental disorders.
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Article in Science (New York, N.Y.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers, 1 of them a synthesis that pooled it.
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117citing papers in PubMed, 1 pooled it
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117 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.Genome medicine · 2022Pooled it
- Increased heart rate functions as a signal of acute distress in non-communicating persons with intellectual disability.Scientific reports · 2021Trial
- Clinical and genetic characterization of intellectual disability.Developmental medicine and child neurology · 2026Article
- Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.Nature genetics · 2026Article
- Common and rare genetic variant associations with cognitive performance across development in British birth cohorts.Nature human behaviour · 2026Article
- Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency.Science advances · 2026Article
- Microbiota-Based Interventions Differentially Rescue Gut and Social Behavior Phenotypes in <italic>Drosophila</italic> with Kdm5 Deficiency.Developmental neuroscience · 2026Article
- Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.Clinical genetics · 2026Article
- eIF3 musketeers: loyal in health, rogue in disease, and redeemed by therapeutic targeting.The EMBO journal · 2026Review
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.Human molecular genetics · 2026Article
- Microbiota-Based Interventions Differentially Rescue Gut and Social Behavior Phenotypes in a Drosophila Autism-like Model.bioRxiv : the preprint server for biology · 2026Article
- Moving beyond monogenic disorders in clinical healthcare.Nature biotechnology · 2026Article
- A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.American journal of human genetics · 2025Article
- eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.Journal of neurodevelopmental disorders · 2025Review
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Nature communications · 2025Article
- Article
- Review
- The distribution of highly deleterious variants across human ancestry groups.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.Journal of Korean medical science · 2025Article
57 more citing papers are in PubMed but not listed here.
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Authors and funding
40 authors.
Hilary C MartinWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. hcm@sanger.ac.uk jeff.barrett@genomicsplc.com.ORCID 0000-0002-4454-9084
Wendy D JonesWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0003-4017-3806
Rebecca McIntyreWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0001-5291-1533
Gabriela Sanchez-AndradeWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Mark SandersonWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
James D StephensonWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-6427-5703
Carla P JonesWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-4329-3267
Juliet HandsakerWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-2790-0813
Giuseppe GalloneWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0001-6806-7226
Michaela BruntraegerWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-8890-0411
Jeremy F McRaeWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0003-3411-9248
Elena PrigmoreWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0001-8870-0316
Patrick ShortWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-7626-6177
Mari NiemiWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0003-0696-6175
Joanna KaplanisWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Elizabeth J RadfordWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-8336-6045
Nadia AkawiDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.ORCID 0000-0001-6311-7028
Meena BalasubramanianSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, OPD2, Northern General Hospital, Herries Rd., Sheffield, S5 7AU, UK.ORCID 0000-0003-1488-3695
John DeanDepartment of Genetics, Aberdeen Royal Infirmary, Aberdeen, UK.ORCID 0000-0003-3841-0841
Rachel HortonWessex Clinical Genetics Service, G Level, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.
Alice HulbertCheshire and Merseyside Clinical Genetic Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool L8 7SS, UK.
Diana S JohnsonSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, OPD2, Northern General Hospital, Herries Rd., Sheffield, S5 7AU, UK.
Katie JohnsonDepartment of Clinical Genetics, City Hospital Campus, Hucknall Road, Nottingham NG5 1PB, UK.ORCID 0000-0002-7206-6960
Dhavendra KumarInstitute of Cancer and Genetics, University Hospital of Wales, Cardiff, UK.
Sally Ann LynchTemple Street Children's Hospital, Dublin, Ireland.ORCID 0000-0003-3540-1333
Sarju G MehtaDepartment of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID 0000-0003-0446-3435
Jenny MortonClinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK.
Michael J ParkerSheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
Miranda SplittNorthern Genetics Service, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID 0000-0002-8906-7580
Peter D TurnpennyClinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.ORCID 0000-0002-5947-0897
Pradeep C VasudevanDepartment of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester LE1 5WW, UK.
Michael WrightNorthern Genetics Service, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID 0000-0001-7483-5404
Andrew BassettWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0003-1632-9137
Sebastian S GeretyWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-6126-5040
Caroline F WrightUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Research, Innovation, Learning and Development (RILD), Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.ORCID 0000-0003-2958-5076
David R FitzPatrickMedical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.ORCID 0000-0003-4861-969X
Helen V FirthWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-6410-0882
Matthew E HurlesWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Jeffrey C BarrettWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. hcm@sanger.ac.uk jeff.barrett@genomicsplc.com.ORCID 0000-0002-1152-370X
Deciphering Developmental Disorders Study
Funding
Medical Research Council MC_UU_00007/3Wellcome Trust 091986Wellcome Trust 098051
Abstract
We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry, compared with 50% explained by de novo coding mutations. It was higher (31%) in patients with Pakistani ancestry, owing to elevated autozygosity. Half of this recessive burden is attributable to known genes. We identified two genes not previously associated with recessive developmental disorders,
Indexed as
Genes, RecessiveGenetic CodeGenetic VariationPenetranceAnimalsDevelopmental DisabilitiesDisease Models, AnimalEukaryotic Initiation Factor-3EuropeGenome-Wide Association StudyHumansJumonji Domain-Containing Histone DemethylasesMiceNuclear ProteinsPakistanPhylogenyEIF3F protein, humanEukaryotic Initiation Factor-3Jumonji Domain-Containing Histone DemethylasesKDM5B protein, humanNuclear ProteinsRepressor Proteins
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