{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T14:00:39Z","timestamp":1792245639270,"version":"4.4.0"},"reference-count":31,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5823","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2007,4,20]]},"abstract":"<jats:p>\n                    We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (\n                    <jats:italic>P<\/jats:italic>\n                    = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.\n                  <\/jats:p>","DOI":"10.1126\/science.1138659","type":"journal-article","created":{"date-parts":[[2007,3,15]],"date-time":"2007-03-15T20:40:56Z","timestamp":1173991256000},"page":"445-449","source":"Crossref","is-referenced-by-count":2387,"title":["Strong Association of De Novo Copy Number Mutations with Autism"],"prefix":"10.1126","volume":"316","author":[{"given":"Jonathan","family":"Sebat","sequence":"first","affiliation":[{"name":"Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA."},{"name":"Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA."},{"name":"Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195\u20137720, USA."},{"name":"Pediatrics and Neurodevelopmental Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892\u20131255, USA."},{"name":"Feinstein Institute for Medical Research, North Shore\u2013Long Island Jewish Health System, Manhasset, NY 11030, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Lakshmi","sequence":"additional","affiliation":[{"name":"Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA."},{"name":"Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA."},{"name":"Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195\u20137720, USA."},{"name":"Pediatrics and Neurodevelopmental Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892\u20131255, USA."},{"name":"Feinstein Institute for Medical Research, North Shore\u2013Long Island Jewish Health System, Manhasset, NY 11030, 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Orye, M. J. Delbeke, B. Vandenabeele, Lancet2, 1376 (1971).","journal-title":"Lancet"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90252-A"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_3_2_32_2","unstructured":"We wish to thank patients and families for their valuable contributions and the NIMH Center for Collaborative Genetic Studies of Mental Disorders the Autism Genetic Resource Exchange (AGRE) the Centre d'Etude du Polymorphisme Humain (CEPH) and D. Levy for providing materials or data for the study. We are grateful to G. Fischbach C. Lord N. Heinz E. Cook L. Brzustowicz J. and M. Simons and L. Iakoucheva for helpful discussions throughout the study and we thank C. Reed P. Roccanova J. Lloyd V. Grubor L. Rodgers D. Esposito L. Hufnagel X. Zhao E. Thorolfsdottir K. A. Olafsdottir and the staff of Lingen EHF for technical assistance. This work was supported by a grant from the Simons Foundation and by NIMH grant MH076431 to J.S. which reflects cofunding from Autism Speaks Cure Autism Now and the Southwestern Autism Research and Resource Center. Additional support was provided by NIMH grant MH61009 to J.S.S. grants to D.S. from Nancy Lurie Marks Family Foundation and the National Alliance for Autism Research (NAAR) and a grant to K.P. and T.L. from the University of Tampere Hospital Medical Fund. AGRE is a program of Cure Autism Now and is supported in part by NIMH grant MH64547 to D.H.G."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1138659","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T03:41:54Z","timestamp":1704858114000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1138659"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,20]]},"references-count":31,"journal-issue":{"issue":"5823","published-print":{"date-parts":[[2007,4,20]]}},"alternative-id":["10.1126\/science.1138659"],"URL":"https:\/\/doi.org\/10.1126\/science.1138659","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1071925.542159","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1071925.539984","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1071925.529695","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1071925.535765","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1071925.533909","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1071925.524870","asserted-by":"object"}]},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,20]]}}}