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Open Access
Peer-reviewed
Research Article
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
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James R. Priest,
Affiliations Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America, Cardiovascular Institute, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Kazutoyo Osoegawa,
Affiliation Department of Pathology, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Nebil Mohammed,
Affiliation University of California San Francisco Benioff Children’s Hospital Oakland, University of California San Francisco, San Francisco, California, United States of America
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Vivek Nanda,
Affiliation Department of Vascular Surgery, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Ramendra Kundu,
Affiliation Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Kathleen Schultz,
Affiliation University of California San Francisco Benioff Children’s Hospital Oakland, University of California San Francisco, San Francisco, California, United States of America
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Edward J. Lammer †,
† Deceased.
Affiliation University of California San Francisco Benioff Children’s Hospital Oakland, University of California San Francisco, San Francisco, California, United States of America
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Santhosh Girirajan,
Affiliation Departments of Biochemistry, Molecular Biology, and Anthropology, Pennsylvania State University, University Park, Pennsylvania, United States of America
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Todd Scheetz,
Affiliation College of Engineering, University of Iowa, Iowa City, Iowa, United States of America
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Daryl Waggott,
Affiliation Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Francois Haddad,
Affiliations Cardiovascular Institute, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Sushma Reddy,
Affiliations Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America, Cardiovascular Institute, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Daniel Bernstein,
Affiliations Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America, Cardiovascular Institute, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Trudy Burns,
Affiliation College of Public Health, University of Iowa, Iowa City, Iowa, United States of America
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Jeffrey D. Steimle,
Affiliation Department of Pathology, University of Chicago, Chicago, Illinois, United States of America
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Xinan H. Yang,
Affiliation Department of Pathology, University of Chicago, Chicago, Illinois, United States of America
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Ivan P. Moskowitz,
Affiliation Department of Pathology, University of Chicago, Chicago, Illinois, United States of America
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Matthew Hurles,
Affiliation Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
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Richard P. Lifton,
Affiliations Department of Genetics, Yale University, New Haven, Connecticut, United States of America, Howard Hughes Medical Institute, Chevy Chase, Maryland, United States of America
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Debbie Nickerson,
Affiliation Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America
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Michael Bamshad,
Affiliations Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
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Evan E. Eichler,
Affiliations Howard Hughes Medical Institute, Chevy Chase, Maryland, United States of America, Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America
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Seema Mital,
Affiliation Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada
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Val Sheffield,
Affiliations Howard Hughes Medical Institute, Chevy Chase, Maryland, United States of America, Division of Medical Genetics, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America
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Thomas Quertermous,
Affiliations Cardiovascular Institute, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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Bruce D. Gelb,
Affiliation Mindich Child Health and Development Institute, Icahn School of Medicine at Mt. Sinai, New York, New York, United States of America
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Michael Portman,
Affiliation Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
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Euan A. Ashley
* E-mail: euan@stanford.edu
Affiliations Cardiovascular Institute, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford University, Stanford, California, United States of America
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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
- James R. Priest,
- Kazutoyo Osoegawa,
- Nebil Mohammed,
- Vivek Nanda,
- Ramendra Kundu,
- Kathleen Schultz,
- Edward J. Lammer,
- Santhosh Girirajan,
- Todd Scheetz,
- Daryl Waggott
- Published: April 8, 2016
- https://doi.org/10.1371/journal.pgen.1005963