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Rare mutations confer large risks for OCD and CTDs but only four high-confidence (hc) genes have been identified. Here we analyzed whole-exome sequencing data from 3,964 individuals with OCD, CTDs or both, including 2,418 trios. We found an excess in cases of de novo and rare protein-damaging mutations and identified 36 hc genes (false discovery rate\u2009&lt;\u20090.1), including four previously identified hc genes (\n                    <jats:italic>CELSR3, CHD8, SCUBE1<\/jats:italic>\n                    and\n                    <jats:italic>WWC1<\/jats:italic>\n                    ) and four genes that overlap with OCD genome-wide association study loci (\n                    <jats:italic>BRWD1<\/jats:italic>\n                    ,\n                    <jats:italic>CELSR3<\/jats:italic>\n                    ,\n                    <jats:italic>QRICH1<\/jats:italic>\n                    and\n                    <jats:italic>SYNE1<\/jats:italic>\n                    ). Risk genes are shared among OCD, CTDs and other neurodevelopmental conditions. Transcriptomic and network analyses highlight mechanistic convergence and increased risk gene expression in postnatal cerebellum, prenatal and postnatal cortex and striatum. Dozens of large-effect OCD and CTD genes offer insights into pathogenesis and a path forward for illuminating pathophysiology and identifying novel treatment targets.\n                  <\/jats:p>","DOI":"10.1038\/s41593-026-02419-5","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T09:02:47Z","timestamp":1788253367000},"page":"2659-2671","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole-exome sequencing in individuals with obsessive\u2013compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes"],"prefix":"10.1038","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5563-894X","authenticated-orcid":false,"given":"Belinda","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew 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M.H.B. has received grant or research support from Therapix Biosciences, Emalex Biosciences, Neurocrine Biosciences, Janssen Pharmaceuticals and NIH, serves as Associate Editor of\n                      The Journal of Child Psychology and Psychiatry\n                      and on the editorial boards of the\n                      Journal of Child and Adolescent Psychopharmacology\n                      and\n                      JAACAP\n                      and has received royalties from Wolters Kluwer for\n                      Lewis\u2019s Child and Adolescent Psychiatry: A Comprehensive Textbook, Fifth Edition\n                      and moonlighting pay from the Veterans Administration. In the past 3\u2009years, C.Pittenger has consulted for Biohaven Pharmaceuticals, Freedom Biosciences, Transcend Therapeutics, UCB BioPharma, Mind Therapeutics, Ceruvia Biosciences, F-Prime Capital Partners and Madison Avenue Partners, has received research support from Biohaven Pharmaceuticals, Freedom Biosciences and Transcend Therapeutics, owns equity in Alco Therapeutics, Mind Therapeutics and Lucid\/Care, receives royalties from Oxford University Press and UpToDate and holds patents on pathogenic antibodies in pediatric OCD and on novel mechanisms of psychedelic drugs. None of these relationships are related to the current paper. In the last 3\u2009years, H.B.S. has received royalties from UpToDate, served on a Scientific Advisory Board for Otsuka Pharmaceuticals (December 12, 2024) and receives a stipend from the American Medical Association for serving as Associate Editor for\n                      JAMA Psychiatry\n                      . K.R.M.-V. has received financial or material research support from DFG (GZ MU 1527\/3\u20131 and GZ MU 1527\/3\u20132) and Almirall Hermal, consultant\u2019s and other honoraria from AlphaSights, Aurora, Canopy, Cansativa, Canymed, DHMS Direct Health Medical Services\/Wellster Healthtech Group, Emalex, Neuraxpharm, Renafan, Sanity Group, Synendos Therapeutics, Takeda and Tetrapharm, is an advisory\/scientific board member for Branchenverband Cannabiswirtschaft, Sanity Group, Synendos Therapeutics and Therapix Biosciences, has received speaker\u2019s fees from \u00c4rztekammer Niedersachsen, Bundesverband der pharmazeutischen Cannabinoidunternehmen, Cogitando, diaplan, FomF, Grow, Laleto, Landesamt f\u00fcr Soziales, Jugend und Versorgung Mainz, Noema, streamedup!, VBG\u2014Unfallversicherung Hamburg, Universit\u00e4tsklinikum Hamburg-Eppendorf, Universit\u00e4tsklinikum M\u00fcnster and WeCann, has received royalties from Elsevier, Medizinisch Wissenschaftliche Verlagsgesellschaft Berlin and Kohlhammer, is an associate editor for\n                      Cannabis and Cannabinoid Research\n                      , is an editorial board member of\n                      Medical Cannabis and Cannabinoids\n                      and\n                      MDPI Reports\n                      and is a scientific board member for\n                      Zeitschrift f\u00fcr Allgemeinmedizin\n                      . D.L.G. has received compensation for expert testimony for the US National Vaccine Injury Compensation Program, through the Department of Health and Human Services, received payment for medical expert opinions through TeladocHealth International, served as a paid consultant for PTC Therapeutics, Noema Pharma and Emalex Biosciences, has received travel support to attend investigator meetings, has provided educational lectures for Illumina and PTC Therapeutics, has received salary compensation through Cincinnati Children\u2019s for work as a clinical trial site investigator from Emalex Biosciences (clinical trial, Tourette syndrome), PTC Therapeutics (registry and clinical trial, amino acid decarboxylase deficiency), Neurocrine Biosciences (clinical trial, cerebral palsy) and Quince Therapeutics (clinical trial, ataxia telangiectasia) and has received book\/publication royalties from Elsevier and Wolters Kluwer. K.J.R. has performed scientific consultation for Bioxcel, Bionomics, Acer and Jazz Pharma, serves on scientific advisory boards for Sage, Boehringer Ingelheim, Senseye and the Brain Research Foundation and has received sponsored research support from Alto Neuroscience. N.J.K. has received research support from Vir Biotechnology, F. Hoffmann-La Roche and Rezo Therapeutics, has a financially compensated consulting agreement with Maze Therapeutics, serves as president and board member of Rezo Therapeutics and holds shares in Tenaya Therapeutics, Maze Therapeutics, Rezo Therapeutics and GEn1E Lifesciences. N. Sestan is a cofounder, board member and shareholder of Bexorg. T.V.F. has received research support or grants from the NIH, Misophonia Research Fund and Yale Child Study Center, has received an honorarium for participation in the 2025 Pediatric Psychopharmacology Update Institute by the American Academy of Child and Adolescent Psychiatry and is paid for expert testimony and consultation by DLA Piper. A.J.W.\u2019s current affiliation is with Calico Life Sciences. M.W.S. serves on the Scientific Advisory Board of MapLight Therapeutics, is a cofounder, board member and shareholder in Mreza therapeutics, and is a shareholder in Bexorg. The other authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Ethics"}}]}}