{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T20:12:41Z","timestamp":1791922361400,"version":"4.3.4"},"reference-count":55,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"9","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH101221"],"award-info":[{"award-number":["R01MH101221"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["Intramural funds"],"award-info":[{"award-number":["Intramural funds"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31671114, 81871079"],"award-info":[{"award-number":["31671114, 81871079"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81730036, 81525007"],"award-info":[{"award-number":["81730036, 81525007"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011002","name":"National Natural Science Foundation of China-Yunnan Joint Fund","doi-asserted-by":"publisher","award":["81671122"],"award-info":[{"award-number":["81671122"]}],"id":[{"id":"10.13039\/501100011002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Key R&D program of Hunan Province","award":["2018DK2016"],"award-info":[{"award-number":["2018DK2016"]}]},{"name":"Science and technology projects of Hunan Province","award":["2016RS2001, 2016JC2055"],"award-info":[{"award-number":["2016RS2001, 2016JC2055"]}]},{"DOI":"10.13039\/100014370","name":"Simons Foundation Autism Research Initiative","doi-asserted-by":"crossref","award":["SFARI 303241"],"award-info":[{"award-number":["SFARI 303241"]}],"id":[{"id":"10.13039\/100014370","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sci. Adv."],"published-print":{"date-parts":[[2019,9,6]]},"abstract":"<jats:p>CSDE1 disruptive mutations are associated with autism.<\/jats:p>","DOI":"10.1126\/sciadv.aax2166","type":"journal-article","created":{"date-parts":[[2019,9,25]],"date-time":"2019-09-25T23:16:11Z","timestamp":1569453371000},"source":"Crossref","is-referenced-by-count":49,"title":["Disruptive variants of\n            <i>CSDE1<\/i>\n            associate with autism and interfere with neuronal development and synaptic transmission"],"prefix":"10.1126","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1570-2545","authenticated-orcid":true,"given":"Hui","family":"Guo","sequence":"first","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."},{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2015-3560","authenticated-orcid":true,"given":"Ying","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7692-0247","authenticated-orcid":true,"given":"Lu","family":"Shen","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5179-087X","authenticated-orcid":true,"given":"Tianyun","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."},{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangbin","family":"Jia","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengzhu","family":"Ou","sequence":"additional","affiliation":[{"name":"Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendra","family":"Hoekzema","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huidan","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madelyn A.","family":"Gillentine","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cenying","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailun","family":"Ni","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengwei","family":"Peng","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongjuan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6113-8706","authenticated-orcid":true,"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanika","family":"Phornphutkul","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital\/Rhode Island Hospital, Providence, RI, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander P. A.","family":"Stegmann","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3348-3531","authenticated-orcid":true,"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children\u2019s Hospital, Cincinnati, OH, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0770-5516","authenticated-orcid":true,"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children\u2019s Hospital, Cincinnati, OH, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph T.","family":"Shieh","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics and Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1654-9036","authenticated-orcid":true,"given":"Kirsty","family":"McWalter","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin G.","family":"Monaghan","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M.","family":"van Hasselt","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht, Utrecht, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"van Gassen","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht, Utrecht, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Bai","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Long","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Han","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingting","family":"Quan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meilin","family":"Chen","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaowen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuokuo","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiumeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieqiong","family":"Tan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tengfei","family":"Zhu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaning","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9557-9451","authenticated-orcid":true,"given":"Nan","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1460-5169","authenticated-orcid":true,"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA."},{"name":"Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema R.","family":"Lalani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8543-8284","authenticated-orcid":true,"given":"Mahshid","family":"Azamian","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia M. S.","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8723-260X","authenticated-orcid":true,"given":"Darius J.","family":"Adams","sequence":"additional","affiliation":[{"name":"Goryeb Children\u2019s Hospital, Atlantic Health System, Morristown, NJ, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malin","family":"Kvarnung","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden."},{"name":"Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5602","authenticated-orcid":true,"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden."},{"name":"Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3285-4281","authenticated-orcid":true,"given":"Ann","family":"Nordgren","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden."},{"name":"Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6328-0842","authenticated-orcid":true,"given":"Jonathan","family":"Pevsner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA."},{"name":"Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikeoluwa A.","family":"Osei-Owusu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA."},{"name":"Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1049-0683","authenticated-orcid":true,"given":"Corrado","family":"Romano","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2013IRCCS, Troina, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8846-4955","authenticated-orcid":true,"given":"Giuseppe","family":"Calabrese","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2013IRCCS, Troina, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7877-938X","authenticated-orcid":true,"given":"Ornella","family":"Galesi","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2013IRCCS, Troina, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7884-6861","authenticated-orcid":true,"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[{"name":"School of Medicine and the Robinson Research Institute, University of Adelaide at the Women\u2019s and Children\u2019s Hospital, Adelaide, South Australia, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7310-5124","authenticated-orcid":true,"given":"Eric","family":"Haan","sequence":"additional","affiliation":[{"name":"Adult Genetics Unit, Royal Adelaide Hospital, and School of Medicine, University of Adelaide, Adelaide, South Australia, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3682-1623","authenticated-orcid":true,"given":"Judith","family":"Ranells","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida, Tampa, FL, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Racobaldo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida, Tampa, FL, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Nordenskjold","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden."},{"name":"Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan-Khetarpal","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Children\u2019s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Sebastian","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Children\u2019s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susie","family":"Ball","sequence":"additional","affiliation":[{"name":"Central Washington Genetics Program, Virginia Mason Memorial, Yakima, WA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobing","family":"Zou","sequence":"additional","affiliation":[{"name":"Children Development Behavior Center of the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingping","family":"Zhao","sequence":"additional","affiliation":[{"name":"Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengmao","family":"Hu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA."},{"name":"Baylor Genetics, Houston, TX, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4177-709X","authenticated-orcid":true,"given":"Pengfei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA."},{"name":"Baylor Genetics, Houston, TX, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5664-7987","authenticated-orcid":true,"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B. A.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael A.","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Washington, Seattle, WA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi-Qing David","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Honghui","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Xie","sequence":"additional","affiliation":[{"name":"Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3015-3545","authenticated-orcid":true,"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8246-4014","authenticated-orcid":true,"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA."},{"name":"Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8090-6002","authenticated-orcid":true,"given":"Kun","family":"Xia","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China."},{"name":"Key Laboratory of Medical Information Research, Central South University, Changsha, Hunan, China."},{"name":"CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200030, China."},{"name":"Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, Hunan 410078, China."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)61539-1"},{"key":"e_1_3_2_3_2","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fifth Edition (American Psychiatric Publishing 2013).","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn835"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.09.016"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature13908"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature13772"},{"key":"e_1_3_2_8_2","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.cell.2017.08.047","article-title":"Genomic patterns of de novo mutation in simplex autism","volume":"171","author":"Turner T. N.","year":"2017","unstructured":"T. N. Turner, B. P. Coe, D. E. Dickel, K. Hoekzema, B. J. Nelson, M. C. Zody, Z. N. Kronenberg, F. Hormozdiari, A. Raja, L. A. Pennacchio, R. B. Darnell, E. E. Eichler, Genomic patterns of de novo mutation in simplex autism. Cell 171, 710\u2013722.e12 (2017).","journal-title":"Cell"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.04.009"},{"key":"e_1_3_2_10_2","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/nrg3813","article-title":"A census of human RNA-binding proteins","volume":"15","author":"Gerstberger S.","year":"2014","unstructured":"S. Gerstberger, M. Hafner, T. Tuschl, A census of human RNA-binding proteins. Nat. Rev. Genet. 15, 829\u2013845 (2014).","journal-title":"Nat. Rev. Genet."},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.02.005"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.06.013"},{"key":"e_1_3_2_13_2","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.neuroscience.2013.08.055","article-title":"The control of precerebellar neuron migration by RNA-binding protein Csde1","volume":"253","author":"Kobayashi H.","year":"2013","unstructured":"H. Kobayashi, D. Kawauchi, Y. Hashimoto, T. Ogata, F. Murakami, The control of precerebellar neuron migration by RNA-binding protein Csde1. Neuroscience 253, 292\u2013303 (2013).","journal-title":"Neuroscience"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-01744-5"},{"key":"e_1_3_2_15_2","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1038\/mp.2013.146","article-title":"Common genetic variants on 1p13.2 associate with risk of autism","volume":"19","author":"Xia K.","year":"2014","unstructured":"K. Xia, H. Guo, Z. Hu, G. Xun, L. Zuo, Y. Peng, K. Wang, Y. He, Z. Xiong, L. Sun, Q. Pan, Z. Long, X. Zou, X. Li, W. Li, X. Xu, L. Lu, Y. Liu, Y. Hu, D. Tian, L. Long, J. Ou, Y. Liu, X. Li, L. Zhang, Y. Pan, J. Chen, H. Peng, Q. Liu, X. Luo, W. Su, L. Wu, D. Liang, H. Dai, X. Yan, Y. Feng, B. Tang, J. Li, Z. Miedzybrodzka, J. Xia, Z. Zhang, X. Luo, X. Zhang, D. St Clair, J. Zhao, F. Zhang, Common genetic variants on 1p13.2 associate with risk of autism. Mol. Psychiatry 19, 1212\u20131219 (2014).","journal-title":"Mol. Psychiatry"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1227764"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3050"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003709"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/nn.2719"},{"key":"e_1_3_2_23_2","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/bies.200900122","article-title":"Eukaryotic cold shock domain proteins: Highly versatile regulators of gene expression","volume":"32","author":"Mihailovich M.","year":"2010","unstructured":"M. Mihailovich, C. Militti, T. Gabaldon, F. Gebauer, Eukaryotic cold shock domain proteins: Highly versatile regulators of gene expression. Bioessays 32, 109\u2013118 (2010).","journal-title":"Bioessays"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature10523"},{"key":"e_1_3_2_25_2","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1038\/nn1132","article-title":"\u03b2-Catenin is critical for dendritic morphogenesis","volume":"6","author":"Yu X.","year":"2003","unstructured":"X. Yu, R. C. Malenka, \u03b2-Catenin is critical for dendritic morphogenesis. Nat. Neurosci. 6, 1169\u20131177 (2003).","journal-title":"Nat. Neurosci."},{"key":"e_1_3_2_26_2","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1042\/BST20140271","article-title":"Post-transcriptional regulation of gene expression by Unr","volume":"43","author":"Ray S.","year":"2015","unstructured":"S. Ray, P. \u00d3. Catnaigh, E. C. Anderson, Post-transcriptional regulation of gene expression by Unr. Biochem. Soc. Trans. 43, 323\u2013327 (2015).","journal-title":"Biochem. Soc. Trans."},{"key":"e_1_3_2_27_2","doi-asserted-by":"crossref","first-page":"3877","DOI":"10.1523\/JNEUROSCI.16-12-03877.1996","article-title":"Homeostasis of synaptic transmission in Drosophila with genetically altered nerve terminal morphology","volume":"16","author":"Stewart B. A.","year":"1996","unstructured":"B. A. Stewart, C. M. Schuster, C. S. Goodman, H. L. Atwood, Homeostasis of synaptic transmission in Drosophila with genetically altered nerve terminal morphology. J. Neurosci. 16, 3877\u20133886 (1996).","journal-title":"J. Neurosci."},{"key":"e_1_3_2_28_2","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/32176","article-title":"Synapse-specific control of synaptic efficacy at the terminals of a single neuron","volume":"392","author":"Davis G. W.","year":"1998","unstructured":"G. W. Davis, C. S. Goodman, Synapse-specific control of synaptic efficacy at the terminals of a single neuron. Nature 392, 82\u201386 (1998).","journal-title":"Nature"},{"key":"e_1_3_2_29_2","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/S0896-6273(01)00326-9","article-title":"Homeostatic control of presynaptic release is triggered by postsynaptic membrane depolarization","volume":"30","author":"Paradis S.","year":"2001","unstructured":"S. Paradis, S. T. Sweeney, G. W. Davis, Homeostatic control of presynaptic release is triggered by postsynaptic membrane depolarization. Neuron 30, 737\u2013749 (2001).","journal-title":"Neuron"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90397-H"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138659"},{"key":"e_1_3_2_32_2","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.stem.2014.08.010","article-title":"Regulation of pluripotency by RNA binding proteins","volume":"15","author":"Ye J.","year":"2014","unstructured":"J. Ye, R. Blelloch, Regulation of pluripotency by RNA binding proteins. Cell Stem Cell 15, 271\u2013280 (2014).","journal-title":"Cell Stem Cell"},{"key":"e_1_3_2_33_2","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/sj.emboj.7601468","article-title":"A role for hnRNP C1\/C2 and Unr in internal initiation of translation during mitosis","volume":"26","author":"Schepens B.","year":"2007","unstructured":"B. Schepens, S. A. Tinton, Y. Bruynooghe, E. Parthoens, M. Haegman, R. Beyaert, S. Cornelis, A role for hnRNP C1\/C2 and Unr in internal initiation of translation during mitosis. EMBO J. 26, 158\u2013169 (2007).","journal-title":"EMBO J."},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00079-5"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.9.1465"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010115)98:2<161::AID-AJMG1025>3.0.CO;2-B"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.10.5401"},{"key":"e_1_3_2_38_2","first-page":"1400","article-title":"Fragile X mental retardation protein regulates trans-synaptic signaling in Drosophila","volume":"6","author":"Friedman S. H.","year":"2013","unstructured":"S. H. Friedman, N. Dani, E. Rushton, K. Broadie, Fragile X mental retardation protein regulates trans-synaptic signaling in Drosophila. Dis. Model. Mech. 6, 1400\u20131413 (2013).","journal-title":"Dis. Model. Mech."},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2016.10.004"},{"key":"e_1_3_2_40_2","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/2040-2392-3-10","article-title":"A review of the evidence for the canonical Wnt pathway in autism spectrum disorders","volume":"3","author":"Kalkman H. O.","year":"2012","unstructured":"H. O. Kalkman, A review of the evidence for the canonical Wnt pathway in autism spectrum disorders. Mol. Autism 3, 10 (2012).","journal-title":"Mol. Autism"},{"key":"e_1_3_2_41_2","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.molmed.2010.08.005","article-title":"Potential therapeutic interventions for fragile X syndrome","volume":"16","author":"Levenga J.","year":"2010","unstructured":"J. Levenga, F. M. S. de Vrij, B. A. Oostra, R. Willemsen, Potential therapeutic interventions for fragile X syndrome. Trends Mol. Med. 16, 516\u2013527 (2010).","journal-title":"Trends Mol. Med."},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms13316"},{"key":"e_1_3_2_43_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3792"},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_3_2_45_2","unstructured":"E. Garrison G. Marth Haplotype-based variant detection from short-read sequencing. arXiv:1207.3907 [q-bio.GN] (17 July 2012)."},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08250"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2013-14-4-r36"},{"key":"e_1_3_2_48_2","doi-asserted-by":"crossref","first-page":"3013","DOI":"10.1093\/bioinformatics\/bts569","article-title":"Site identification in high-throughput RNA\u2013protein interaction data","volume":"28","author":"Uren P. J.","year":"2012","unstructured":"P. J. Uren, E. Bahrami-Samani, S. C. Burns, M. Qiao, F. V. Karginov, E. Hodges, G. J. Hannon, J. R. Sanford, L. O. F. Penalva, A. D. Smith, Site identification in high-throughput RNA\u2013protein interaction data. Bioinformatics 28, 3013\u20133020 (2012).","journal-title":"Bioinformatics"},{"key":"e_1_3_2_49_2","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/nature08170","article-title":"Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps","volume":"460","author":"Chi S. W.","year":"2009","unstructured":"S. W. Chi, J. B. Zang, A. Mele, R. B. Darnell, Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps. Nature 460, 479\u2013486 (2009).","journal-title":"Nature"},{"key":"e_1_3_2_50_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2003-4-5-p3"},{"key":"e_1_3_2_51_2","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1242\/dev.027656","article-title":"Dual sex-specific functions of Drosophila upstream of N-ras in the control of X chromosome dosage compensation","volume":"136","author":"Patalano S.","year":"2009","unstructured":"S. Patalano, M. Mihailovich, Y. Belacortu, N. Paricio, F. Gebauer, Dual sex-specific functions of Drosophila upstream of N-ras in the control of X chromosome dosage compensation. Development 136, 689\u2013698 (2009).","journal-title":"Development"},{"key":"e_1_3_2_52_2","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1101\/gad.371906","article-title":"Drosophila UNR is required for translational repression of male-specific lethal 2 mRNA during regulation of X-chromosome dosage compensation","volume":"20","author":"Abaza I.","year":"2006","unstructured":"I. Abaza, O. Coll, S. Patalano, F. Gebauer, Drosophila UNR is required for translational repression of male-specific lethal 2 mRNA during regulation of X-chromosome dosage compensation. Genes Dev. 20, 380\u2013389 (2006).","journal-title":"Genes Dev."},{"key":"e_1_3_2_53_2","first-page":"2676","article-title":"Dissection and imaging of active zones in the Drosophila neuromuscular junction","author":"Smith R.","year":"2011","unstructured":"R. Smith, J. P. Taylor, Dissection and imaging of active zones in the Drosophila neuromuscular junction. J. Vis. Exp. 2676 (2011).","journal-title":"J. Vis. Exp."},{"key":"e_1_3_2_54_2","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.108"},{"key":"e_1_3_2_55_2","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/978-1-59745-178-9_26","article-title":"FM 1-43 labeling of synaptic vesicle pools at the Drosophila neuromuscular junction","volume":"440","author":"Verstreken P.","year":"2008","unstructured":"P. Verstreken, T. Ohyama, H. J. Bellen, FM 1-43 labeling of synaptic vesicle pools at the Drosophila neuromuscular junction. Methods Mol. Biol. 440, 349\u2013369 (2008).","journal-title":"Methods Mol. Biol."},{"key":"e_1_3_2_56_2","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1523\/JNEUROSCI.3854-10.2011","article-title":"Neuroligin 2 is required for synapse development and function at the Drosophila neuromuscular junction","volume":"31","author":"Sun M.","year":"2011","unstructured":"M. Sun, G. Xing, L. Yuan, G. Gan, D. Knight, S. I. With, C. He, J. Han, X. Zeng, M. Fang, G. L. Boulianne, W. Xie, Neuroligin 2 is required for synapse development and function at the Drosophila neuromuscular junction. J. Neurosci. 31, 687\u2013699 (2011).","journal-title":"J. Neurosci."}],"container-title":["Science Advances"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/sciadv.aax2166","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T16:21:25Z","timestamp":1704817285000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/sciadv.aax2166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,6]]},"references-count":55,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9,6]]}},"alternative-id":["10.1126\/sciadv.aax2166"],"URL":"https:\/\/doi.org\/10.1126\/sciadv.aax2166","relation":{},"ISSN":["2375-2548"],"issn-type":[{"value":"2375-2548","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,6]]},"article-number":"eaax2166"}}