Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-10-09

AUTHORS

Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant, Wei-Chien Hung, Shozeb Haider, Junhui Zhang, James Knight, Robert D Bjornson, Christopher Castaldi, Irina R Tikhonoa, Kaya Bilguvar, Shrikant M Mane, Stephan J Sanders, Seema Mital, Mark W Russell, J William Gaynor, John Deanfield, Alessandro Giardini, George A Porter, Deepak Srivastava, Cecelia W Lo, Yufeng Shen, W Scott Watkins, Mark Yandell, H Joseph Yost, Martin Tristani-Firouzi, Jane W Newburger, Amy E Roberts, Richard Kim, Hongyu Zhao, Jonathan R Kaltman, Elizabeth Goldmuntz, Wendy K Chung, Jonathan G Seidman, Bruce D Gelb, Christine E Seidman, Richard P Lifton, Martina Brueckner

ABSTRACT

Exome sequencing of 2,871 probands with congenital heart disease (CHD) provides new insights into the genetic architecture of these disorders. The results implicate new genes in CHD pathogenesis and highlight striking overlap between genes with damaging de novo mutations in individuals with CHD and autism.

PAGES

1593-1601

References to SciGraph publications

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    11

    VOLUME

    49

    Author Affiliations

  • Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA
  • Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, USA
  • Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA
  • Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
  • Department of Applied Physics and Applied Mathematics, Columbia University, New York, New York, USA
  • Department of Pediatrics, Columbia University Medical Center, New York, New York, USA
  • Department of Computational Chemistry, University College London School of Pharmacy, London, UK
  • Yale Center for Genome Analysis, Yale University, New Haven, Connecticut, USA
  • Department of Psychiatry, University of California San Francisco, San Francisco, California, USA
  • Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
  • Division of Pediatric Cardiology, University of Michigan, Ann Arbor, Michigan, USA
  • Department of Pediatric Cardiac Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  • Department of Cardiology, University College London and Great Ormond Street Hospital, London, UK
  • Department of Pediatrics, University of Rochester Medical Center, The School of Medicine and Dentistry, Rochester, New York, USA
  • Departments of Pediatrics and Biochemistry & Biophysics, University of California, San Francisco, San Francisco, California, USA
  • Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
  • Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, New York, USA
  • Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, Utah, USA
  • USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA
  • Division of Pediatric Cardiology, University of Utah, Salt Lake City, Utah, USA
  • Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA
  • Pediatric Cardiac Surgery, Children's Hospital of Los Angeles, Los Angeles, California, USA
  • Division of Cardiovascular Sciences, Heart Development and Structural Diseases Branch, NHLBI/NIH, Bethesda, Maryland, USA
  • Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
  • Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, USA
  • Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA
  • Howard Hughes Medical Institute, Harvard University, Boston, Massachusetts, USA
  • Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA
  • Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3970

    DOI

    http://dx.doi.org/10.1038/ng.3970

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1092132028

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28991257


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