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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina.
Afiliación
  • Fu JM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Satterstrom FK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Peng M; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Collins RL; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Dong S; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Wamsley B; Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA, USA.
  • Klei L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Wang L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Hao SP; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Stevens CR; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
  • Cusick C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Babadi M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Banks E; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Collins B; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
  • Dodge S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
  • Gabriel SB; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Gauthier L; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Lee SK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Liang L; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
  • Ljungdahl A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Mahjani B; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Sloofman L; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
  • Smirnov AN; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Barbosa M; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Betancur C; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Brusco A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Chung BHY; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Cook EH; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Cuccaro ML; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Domenici E; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Ferrero GB; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Gargus JJ; Genomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Herman GE; Genomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Hertz-Picciotto I; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Maciel P; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Manoach DS; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
  • Passos-Bueno MR; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
  • Persico AM; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Renieri A; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Sutcliffe JS; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
  • Tassone F; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Trabetti E; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Campos G; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Cardaropoli S; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Carli D; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Chan MCY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Fallerini C; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.
  • Giorgio E; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Girardi AC; Medical Genetics Unit, 'Città della Salute e della Scienza' University Hospital, Turin, Italy.
Nat Genet ; 54(9): 1320-1331, 2022 09.
Article en En | MEDLINE | ID: mdl-35982160

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Trastorno del Espectro Autista Tipo de estudio: Etiology_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Trastorno del Espectro Autista Tipo de estudio: Etiology_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
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