Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
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Published:2022-08-18
Issue:9
Volume:54
Page:1320-1331
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Fu Jack M., Satterstrom F. KyleORCID, Peng Minshi, Brand Harrison, Collins Ryan L., Dong Shan, Wamsley Brie, Klei Lambertus, Wang Lily, Hao Stephanie P.ORCID, Stevens Christine R.ORCID, Cusick Caroline, Babadi Mehrtash, Banks Eric, Collins Brett, Dodge Sheila, Gabriel Stacey B., Gauthier Laura, Lee Samuel K.ORCID, Liang LindsayORCID, Ljungdahl Alicia, Mahjani Behrang, Sloofman Laura, Smirnov Andrey N.ORCID, Barbosa Mafalda, Betancur CatalinaORCID, Brusco AlfredoORCID, Chung Brian H. Y.ORCID, Cook Edwin H.ORCID, Cuccaro Michael L., Domenici EnricoORCID, Ferrero Giovanni Battista, Gargus J. Jay, Herman Gail E., Hertz-Picciotto Irva, Maciel PatriciaORCID, Manoach Dara S.ORCID, Passos-Bueno Maria Rita, Persico Antonio M., Renieri Alessandra, Sutcliffe James S.ORCID, Tassone Flora, Trabetti Elisabetta, Campos GabrieleORCID, Cardaropoli SimonaORCID, Carli DianaORCID, Chan Marcus C. Y., Fallerini Chiara, Giorgio Elisa, Girardi Ana CristinaORCID, Hansen-Kiss Emily, Lee So Lun, Lintas Carla, Ludena Yunin, Nguyen Rachel, Pavinato LisaORCID, Pericak-Vance MargaretORCID, Pessah Isaac N., Schmidt Rebecca J.ORCID, Smith Moyra, Costa Claudia I. S., Trajkova Slavica, Wang Jaqueline Y. T., Yu Mullin H. C., Aleksic Branko, Artomov Mykyta, Benetti Elisa, Biscaldi-Schafer Monica, Børglum Anders D., Carracedo Angel, Chiocchetti Andreas G., Coon Hilary, Doan Ryan N., Fernández-Prieto Montserrat, Freitag Christine M., Gerges Sherif, Guter Stephen, Hougaard David M., Hultman Christina M., Jacob Suma, Kaartinen Miia, Kolevzon Alexander, Kushima Itaru, Lehtimäki Terho, Rizzo Caterina Lo, Maltman Nell, Manara Marianna, Meiri Gal, Menashe Idan, Miller Judith, Minshew Nancy, Mosconi Matthew, Ozaki Norio, Palotie Aarno, Parellada Mara, Puura Kaija, Reichenberg Abraham, Sandin Sven, Scherer Stephen W., Schlitt Sabine, Schmitt Lauren, Schneider-Momm Katja, Siper Paige M., Suren Pål, Sweeney John A., Teufel Karoline, del Pilar Trelles Maria, Weiss Lauren A., Yuen Ryan, Cutler David J., De Rubeis SilviaORCID, Buxbaum Joseph D.ORCID, Daly Mark J.ORCID, Devlin BernieORCID, Roeder KathrynORCID, Sanders Stephan J.ORCID, Talkowski Michael E.ORCID, , ,
Funder
Simons Foundation U.S. Department of Health & Human Services | NIH | National Institute of Mental Health U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development Autism Speaks National Science Foundation
Publisher
Springer Science and Business Media LLC
Reference70 articles.
1. Maenner, M. J. et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years—Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2018. MMWR Surveill. Summ. 70, 1–16 (2021). 2. Sandin, S. et al. The heritability of autism spectrum disorder. JAMA 318, 1182–1184 (2017). 3. Grove, J. et al. Identification of common genetic risk variants for autism spectrum disorder. Nat. Genet. 51, 431–444 (2019). 4. Satterstrom, F. K. et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell 180, 568–584.e23 (2020). 5. Kaplanis, J. et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757–762 (2020).
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