Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Publication: Research - peer-reviewJournal article – Annual report year: 2012

  • Author: Talkowski, Michael E.

    Broad Institute of Harvard University and Massachusetts Institute of Technology, United States

  • Author: Rosenfeld, Jill A.

    Signature Genomic Laboratories, PerkinElmer Inc., Spokane, United States

  • Author: Blumenthal, Ian

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Pillalamarri, Vamsee

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Chiang, Colby

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Heilbut, Adrian

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Ernst, Carl

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Hanscom, Carrie

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Rossin, Elizabeth

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Lindgren, Amelia M.

    Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, United States

  • Author: Pereira, Shahrin

    Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, United States

  • Author: Ruderfer, Douglas

    Autism Consortium of Boston, United States

  • Author: Kirby, Andrew

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Ripke, Stephan

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Harris, David J.

    Division of Clinical Genetics, Children's Hospital Boston, United States

  • Author: Lee, Ji-Hyun

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Ha, Kyungsoo

    Cancer Research Center, Georgia Health Sciences University, United States

  • Author: Kim, Hyung-Goo

    Institute of Molecular Medicine and Genetics, Georgia Health Sciences University, United States

  • Author: Solomon, Benjamin D.

    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, United States

  • Author: Gropman, Andrea L.

    Department of Neurology, Children’s National Medical Center, Washington, United States

  • Author: Lucente, Diane

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Sims, Katherine

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Ohsumi, Toshiro K.

    Department of Molecular Biology, Massachusetts General Hospital, United States

  • Author: Borowsky, Mark L.

    Department of Molecular Biology, Massachusetts General Hospital, United States

  • Author: Loranger, Stephanie

    Autism Consortium of Boston, United States

  • Author: Quade, Bradley

    Department of Pathology, Massachusetts General Hospital, United States

  • Author: Hansen, Kasper Lage

    Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark

  • Author: Miles, Judith

    The Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri Hospitals and Clinics, United States

  • Author: Wu, Bai-Lin

    Department of Pathology, Massachusetts General Hospital, United States

  • Author: Shen, Yiping

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Neale, Benjamin

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Shaffer, Lisa G.

    Signature Genomic Laboratories, PerkinElmer Inc., Spokane, United States

  • Author: Daly, Mark J.

    Center for Human Genetic Research, Massachusetts General Hospital, United States

  • Author: Morton, Cynthia C.

    Broad Institute of Harvard University and Massachusetts Institute of Technology, United States

  • Author: Gusella, James F.

    Center for Human Genetic Research, Massachusetts General Hospital, United States

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Sequencing of balanced chromosomal abnormalities, combined with convergent genomic studies of gene expression, copy-number variation, and genome-wide association, identifies 22 new loci that contribute to autism and related neurodevelopmental disorders. These data support a polygenic risk model for autism and provide new insight into how different types of mutations of the same genes can lead to variable disease phenotypes that manifest at different stages of life.
Original languageEnglish
JournalCell
Publication date2012
Volume149
Issue3
Pages525-537
ISSN0092-8674
DOIs
StatePublished
CitationsWeb of Science® Times Cited: 90
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