Zobrazeno 51 - 60
of 174
pro vyhledávání: '"Talkowski ME"'
Autor:
Fu JM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Satterstrom FK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Peng M; Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA., Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA., Dong S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Wamsley B; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Klei L; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Wang L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA., Hao SP; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA., Stevens CR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Cusick C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Babadi M; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Banks E; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Collins B; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Dodge S; Genomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gabriel SB; Genomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gauthier L; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lee SK; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Liang L; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Ljungdahl A; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Mahjani B; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Sloofman L; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Smirnov AN; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barbosa M; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Betancur C; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Medical Genetics Unit, 'Città della Salute e della Scienza' University Hospital, Turin, Italy., Chung BHY; Department of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China., Cook EH; Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA., Cuccaro ML; The John P Hussman Institute for Human Genomics, The University of Miami Miller School of Medicine, Miami, FL, USA., Domenici E; Department of Cellular, Computational and Integrative Biology, , University of Trento, Trento, Italy., Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Gargus JJ; Center for Autism Research and Translation, University of California Irvine, Irvine, CA, USA., Herman GE; The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Hertz-Picciotto I; MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA., Maciel P; Life and Health Sciences Research Institute, School of Medicine, University of Minho, Braga, Portugal., Manoach DS; Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Passos-Bueno MR; Centro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Persico AM; Interdepartmental Program 'Autism 0-90', 'Gaetano Martino' University Hospital, University of Messina, Messina, Italy., Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, , University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Sutcliffe JS; Department of Molecular Physiology & Biophysics and Psychiatry, Vanderbilt University School of Medicine, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University School of Medicine, Nashville, TN, USA., Tassone F; MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA.; Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, CA, USA., Trabetti E; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy., Campos G; Centro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Cardaropoli S; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Carli D; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Chan MCY; Department of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China., Fallerini C; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, , University of Siena, Siena, Italy., Giorgio E; Department of Medical Sciences, University of Torino, Turin, Italy., Girardi AC; Centro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Hansen-Kiss E; Department of Diagnostic and Biomedical Sciences, University of Texas Health Science Center at Houston, School of Dentistry, Houston, TX, USA., Lee SL; Department of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China., Lintas C; Service for Neurodevelopmental Disorders, University Campus Bio-medico of Rome, Rome, Italy., Ludena Y; MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA., Nguyen R; Center for Autism Research and Translation, University of California Irvine, Irvine, CA, USA., Pavinato L; Department of Medical Sciences, University of Torino, Turin, Italy., Pericak-Vance M; The John P Hussman Institute for Human Genomics, The University of Miami Miller School of Medicine, Miami, FL, USA., Pessah IN; MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA.; Department of Molecular Biosciences, University of California Davis, School of Veterinary Medicine, Davis, CA, USA., Schmidt RJ; MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, CA, USA., Smith M; Center for Autism Research and Translation, University of California Irvine, Irvine, CA, USA., Costa CIS; Centro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Trajkova S; Department of Medical Sciences, University of Torino, Turin, Italy., Wang JYT; Centro de Pesquisas sobre o Genoma Humano e Células tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Yu MHC; Department of Pediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu., Daly MJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Harvard Medical School, Boston, MA, USA. mjdaly@atgu.mgh.harvard.edu.; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. mjdaly@atgu.mgh.harvard.edu., Devlin B; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. devlinbj@upmc.edu., Roeder K; Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA, USA. roeder@andrew.cmu.edu.; Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA, USA. roeder@andrew.cmu.edu., Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA. Stephan.Sanders@ucsf.edu., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. MTALKOWSKI@mgh.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. MTALKOWSKI@mgh.harvard.edu.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. MTALKOWSKI@mgh.harvard.edu.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. MTALKOWSKI@mgh.harvard.edu.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA. MTALKOWSKI@mgh.harvard.edu.
Publikováno v:
Nature genetics [Nat Genet] 2022 Sep; Vol. 54 (9), pp. 1320-1331. Date of Electronic Publication: 2022 Aug 18.
Autor:
Byrska-Bishop M; New York Genome Center, New York, NY 10013, USA. Electronic address: mbyrska-bishop@nygenome.org., Evani US; New York Genome Center, New York, NY 10013, USA., Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Basile AO; New York Genome Center, New York, NY 10013, USA., Abel HJ; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Regier AA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Corvelo A; New York Genome Center, New York, NY 10013, USA., Clarke WE; New York Genome Center, New York, NY 10013, USA; Outlier Informatics Inc., Saskatoon, SK S7H 1L4, Canada., Musunuri R; New York Genome Center, New York, NY 10013, USA., Nagulapalli K; New York Genome Center, New York, NY 10013, USA., Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Runnels A; New York Genome Center, New York, NY 10013, USA., Winterkorn L; New York Genome Center, New York, NY 10013, USA., Lowy E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Paul Flicek; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Germer S; New York Genome Center, New York, NY 10013, USA., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Hall IM; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; Center for Genomic Health, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Narzisi G; New York Genome Center, New York, NY 10013, USA., Zody MC; New York Genome Center, New York, NY 10013, USA. Electronic address: mczody@nygenome.org.
Publikováno v:
Cell [Cell] 2022 Sep 01; Vol. 185 (18), pp. 3426-3440.e19.
Autor:
Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA. Electronic address: rlcollins@g.harvard.edu., Glessner JT; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Division of Human Genetics, Perelman School of Medicine, Philadelphia, PA 19104, USA., Porcu E; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland., Lepamets M; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia; Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia., Brandon R; GeneDx, Gaithersburg, MD 20877, USA., Lauricella C; GeneDx, Gaithersburg, MD 20877, USA., Han L; Division of Genetic Medicine, Department of Medicine, and Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Morley T; Division of Genetic Medicine, Department of Medicine, and Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Niestroj LM; Cologne Center for Genomics, University of Cologne, 51149 Cologne, Germany., Ulirsch J; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Everett S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Howrigan DP; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Boone PM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Karczewski KJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Kellaris G; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Lowther C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Mohajeri K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA., Nõukas M; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia; Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia., Nuttle X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10, UK., Trinh M; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10, UK., Ullah F; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Võsa U; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia., Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10, UK., Aradhya S; GeneDx, Gaithersburg, MD 20877, USA., Davis EE; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Finucane H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Gusella JF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Janze A; GeneDx, Gaithersburg, MD 20877, USA., Katsanis N; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Chicago, IL 60611, USA; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Matyakhina L; GeneDx, Gaithersburg, MD 20877, USA., Neale BM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Sanders D; Avenue 80, Inc., Fort Wayne, IN 46802, USA., Warren S; GeneDx, Gaithersburg, MD 20877, USA., Hodge JC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Lal D; Cologne Center for Genomics, University of Cologne, 51149 Cologne, Germany; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Ruderfer DM; Division of Genetic Medicine, Department of Medicine, and Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Center for Precision Medicine, Department of Biomedical Informatics, and Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Meck J; GeneDx, Gaithersburg, MD 20877, USA., Mägi R; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia., Esko T; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia., Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Kutalik Z; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; Center for Primary Care and Public Health, University of Lausanne, 1015 Lausanne, Switzerland; Department of Computational Biology, University of Lausanne, 1015 Lausanne, Switzerland., Hakonarson H; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Division of Human Genetics, Perelman School of Medicine, Philadelphia, PA 19104, USA., Sunyaev S; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: hbrand@broadinstitute.org., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. Electronic address: talkowsk@broadinstitute.org.
Publikováno v:
Cell [Cell] 2022 Aug 04; Vol. 185 (16), pp. 3041-3055.e25. Date of Electronic Publication: 2022 Aug 01.
Autor:
Morini E; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA., Gao D; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Logan EM; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA., Salani M; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA., Krauson AJ; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA., Chekuri A; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA., Chen YT; Department of Life Sciences and Institute of Genome Sciences, National Yang Ming Chiao Tung University, Taiwan., Ragavendran A; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Chakravarty P; Bioinformatics and Biostatistics, The Francis Crick Institute, London, UK., Erdin S; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Stortchevoi A; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Svejstrup JQ; Mechanisms of Transcription Laboratory, The Francis Crick Institute, London, UK; Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Slaugenhaupt SA; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA. Electronic address: slaugenhaupt@mgh.harvard.edu.
Publikováno v:
Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2022 Jul; Vol. 49 (7), pp. 654-665. Date of Electronic Publication: 2021 Dec 09.
Autor:
Lim ET; Program in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA. elaine.lim@umassmed.edu.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA. elaine.lim@umassmed.edu.; NeuroNexus Institute, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA. elaine.lim@umassmed.edu.; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA. elaine.lim@umassmed.edu., Chan Y; Program in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; NeuroNexus Institute, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Dawes P; Program in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; NeuroNexus Institute, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Guo X; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA.; Wyss Institute for Biologically Inspired Engineerin, Harvard University, Boston, MA, 02115, USA., Erdin S; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA., Tai DJC; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA., Liu S; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA.; Wyss Institute for Biologically Inspired Engineerin, Harvard University, Boston, MA, 02115, USA., Reichert JM; Program in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; NeuroNexus Institute, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Burns MJ; Program in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; NeuroNexus Institute, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Chan YK; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA.; Wyss Institute for Biologically Inspired Engineerin, Harvard University, Boston, MA, 02115, USA., Chiang JJ; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA.; Wyss Institute for Biologically Inspired Engineerin, Harvard University, Boston, MA, 02115, USA., Meyer K; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA., Zhang X; Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA.; The Grossman Neuroscience Institute, The University of Chicago, Chicago, IL, 60637, USA., Walsh CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA.; Howard Hughes Medical Institute, Boston, MA, 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA., Yankner BA; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA., Raychaudhuri S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA.; Center for Data Sciences, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Division of Rheumatology and Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Centre for Genetics and Genomics Versus Arthritis, Manchester Academic Health Science Centre, University of Manchester, Manchester, M13 9PL, UK., Hirschhorn JN; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, 02115, USA.; Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA, 02115, USA., Gusella JF; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA.; Harvard Stem Cell Institute, Harvard University, Cambridge, MA, 02138, USA., Talkowski ME; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA., Church GM; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA. gchurch@genetics.med.harvard.edu.; Wyss Institute for Biologically Inspired Engineerin, Harvard University, Boston, MA, 02115, USA. gchurch@genetics.med.harvard.edu.
Publikováno v:
Nature communications [Nat Commun] 2022 Jun 10; Vol. 13 (1), pp. 3243. Date of Electronic Publication: 2022 Jun 10.
Autor:
Wigdor EM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK., Weiner DJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Grove J; Center for Genomics and Personalized Medicine (CGPM), Aarhus University, 8000 Aarhus, Denmark.; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, 8000 Aarhus, Denmark.; Bioinformatics Research Centre, Aarhus University, 8000 Aarhus, Denmark.; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark., Fu JM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Thompson WK; Laureate Institute for Brain Research, Tulsa, OK 74136, USA., Carey CE; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Baya N; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., van der Merwe C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Walters RK; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Satterstrom FK; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Palmer DS; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Rosengren A; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark.; Institute of Biological Psychiatry, MHC Sct Hans, Copenhagen University Hospital, 4000 Roskilde, Denmark., Bybjerg-Grauholm J; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark.; Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, 2300 Copenhagen, Denmark., Hougaard DM; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 8210 Aarhus, Denmark.; Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, 2300 Copenhagen, Denmark., Mortensen PB; Center for Genomics and Personalized Medicine (CGPM), Aarhus University, 8000 Aarhus, Denmark.; Institute of Biological Psychiatry, MHC Sct Hans, Copenhagen University Hospital, 4000 Roskilde, Denmark.; National Center for Register-Based Research, Aarhus University, 8210 Aarhus, Denmark.; Center for Integrated Register-based Research, Aarhus University, 8210 Aarhus, Denmark., Daly MJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Finnish Institute for Molecular Medicine, University of Helsinki, 00290 Helsinki, Finland., Talkowski ME; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Sanders SJ; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Bishop SL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Børglum AD; Center for Genomics and Personalized Medicine (CGPM), Aarhus University, 8000 Aarhus, Denmark.; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, 8000 Aarhus, Denmark.; Institute of Biological Psychiatry, MHC Sct Hans, Copenhagen University Hospital, 4000 Roskilde, Denmark., Robinson EB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Publikováno v:
Cell genomics [Cell Genom] 2022 Jun 08; Vol. 2 (6), pp. 100134. Date of Electronic Publication: 2022 Jun 08 (Print Publication: 2022).
Autor:
Domingo A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Yadav R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Shah S; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA., Hendriks WT; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA., Erdin S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Gao D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Currall B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Gusella JF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA., Sharma N; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA., Ozelius LJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA., Ehrlich ME; Departments of Neurology, Pediatrics, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA. Electronic address: mtalkowski@mgh.harvard.edu., Bragg DC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA. Electronic address: bragg@helix.mgh.harvard.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2145-2158. Date of Electronic Publication: 2021 Oct 20.
Autor:
Mahjani B; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA., Gustavsson Mahjani C; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Mulhern M; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Xu X; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Klei L; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Satterstrom FK; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Fu J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Talkowski ME; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Reichenberg A; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Sandin S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Hultman CM; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Grice DE; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA., Roeder K; Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA., Devlin B; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. Joseph.Buxbaum@mssm.edu.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Joseph.Buxbaum@mssm.edu.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Joseph.Buxbaum@mssm.edu.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA. Joseph.Buxbaum@mssm.edu.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Joseph.Buxbaum@mssm.edu.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Joseph.Buxbaum@mssm.edu.
Publikováno v:
Molecular autism [Mol Autism] 2021 Oct 06; Vol. 12 (1), pp. 65. Date of Electronic Publication: 2021 Oct 06.
Autor:
Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org., Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Cummings BB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA., Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA., Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Ganna A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland, Helsinki, Finland., Birnbaum DP; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Gauthier LD; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Rhodes D; Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London and Barts Health NHS Trust, London, UK., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Kosmicki JA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA., Walters RK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tashman K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Farjoun Y; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Banks E; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wang A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Seed C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Whiffin N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA, USA., Samocha KE; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Pierce-Hoffman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Zappala Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Vertex Pharmaceuticals Inc, Boston, MA, USA., O'Donnell-Luria AH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Minikel EV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Ware JS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK., Vittal C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Armean IM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Bergelson L; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cibulskis K; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Connolly KM; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Covarrubias M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Donnelly S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gabriel S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gentry J; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Jeandet T; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kaplan D; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Llanwarne C; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Munshi R; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Novod S; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Petrillo N; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Roazen D; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ruano-Rubio V; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Saltzman A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Schleicher M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Soto J; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tibbetts K; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tolonen C; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wade G; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland, Helsinki, Finland.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. d.macarthur@garvan.org.au.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia. d.macarthur@garvan.org.au.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. d.macarthur@garvan.org.au.
Publikováno v:
Nature [Nature] 2021 Sep; Vol. 597 (7874), pp. E3-E4.
Autor:
Keen KL; Wisconsin National Primate Research Center, University of Wisconsin, Madison, WI, USA., Petersen AJ; Waisman Center, Graduate School, University of Wisconsin, Madison, WI, USA., Figueroa AG; Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA., Fordyce BI; Wisconsin National Primate Research Center, University of Wisconsin, Madison, WI, USA., Shin J; Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Yadav R; Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA., Erdin S; Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA., Pearce RA; Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA., Bhattacharyya A; Waisman Center, Graduate School, University of Wisconsin, Madison, WI, USA.; Department of Cell and Regenerative Medicine, University of Wisconsin, Madison, WI, USA., Terasawa E; Wisconsin National Primate Research Center, University of Wisconsin, Madison, WI, USA.; Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Publikováno v:
Endocrinology [Endocrinology] 2021 Sep 01; Vol. 162 (9).