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Open Access
Peer-reviewed
Research Article
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
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Hongjian Qi ,
Contributed equally to this work with: Hongjian Qi, Lan Yu, Xueya Zhou
Roles Formal analysis, Methodology, Writing – original draft
Affiliations Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America, Department of Applied Mathematics and Applied Physics, Columbia University, New York, New York, United States of America
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Lan Yu ,
Contributed equally to this work with: Hongjian Qi, Lan Yu, Xueya Zhou
Roles Data curation, Methodology, Validation, Writing – original draft
Affiliation Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America
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Xueya Zhou ,
Contributed equally to this work with: Hongjian Qi, Lan Yu, Xueya Zhou
Roles Formal analysis, Methodology, Visualization, Writing – original draft
Affiliations Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America, Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America
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Julia Wynn,
Roles Data curation
Affiliation Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America
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Haoquan Zhao,
Roles Formal analysis, Visualization
Affiliations Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America, Department of Biomedical Informatics, Columbia University Medical Center, New York, New York, United States of America
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Yicheng Guo,
Roles Formal analysis, Visualization
Affiliation Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America
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Na Zhu,
Roles Formal analysis
Affiliations Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America, Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America
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Alexander Kitaygorodsky,
Roles Formal analysis
Affiliations Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America, Department of Biomedical Informatics, Columbia University Medical Center, New York, New York, United States of America
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Rebecca Hernan,
Roles Data curation
Affiliation Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America
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Gudrun Aspelund,
Roles Resources
Affiliation Department of Surgery, Columbia University Medical Center, New York, New York, United States of America
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Foong-Yen Lim,
Roles Resources
Affiliation Cincinnati Children's Hospital, Cincinnati, Ohio, United States of America
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Timothy Crombleholme,
Roles Resources
Affiliation Cincinnati Children's Hospital, Cincinnati, Ohio, United States of America
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Robert Cusick,
Roles Resources
Affiliation Children's Hospital & Medical Center of Omaha, University of Nebraska College of Medicine, Omaha, Nebraska, United States of America
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Kenneth Azarow,
Roles Resources
Affiliation Department of Surgery, Oregon Health & Science University, Portland, Oregon, United States of America
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Melissa E. Danko,
Roles Resources
Affiliation Monroe Carell Jr. Children's Hospital, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America
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Dai Chung,
Roles Resources
Affiliation Monroe Carell Jr. Children's Hospital, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America
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Brad W. Warner,
Roles Resources
Affiliation Washington University, St. Louis Children's Hospital, St. Louis, Missouri, United States of America
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George B. Mychaliska,
Roles Resources
Affiliation University of Michigan, CS Mott Children's Hospital, Ann Arbor, Michigan, United States of America
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Douglas Potoka,
Roles Resources
Affiliation Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
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Amy J. Wagner,
Roles Resources
Affiliation Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America
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Mahmoud ElFiky,
Roles Resources
Affiliation Department of Pediatric Surgery, Faculty of Medicine, Cairo University, Cairo, Egypt
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Jay M. Wilson,
Roles Resources
Affiliations Department of Surgery, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Department of Surgery, Harvard Medical School, Boston, Massachusetts, United States of America
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Debbie Nickerson,
Roles Resources
Affiliation University of Washington, Seattle, Washington, United States of America
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Michael Bamshad,
Roles Resources
Affiliation University of Washington, Seattle, Washington, United States of America
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Frances A. High,
Roles Resources
Affiliations Department of Surgery, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Department of Surgery, Harvard Medical School, Boston, Massachusetts, United States of America, Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts, United States of America
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Mauro Longoni,
Roles Resources
Affiliations Department of Surgery, Harvard Medical School, Boston, Massachusetts, United States of America, Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts, United States of America
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Patricia K. Donahoe,
Roles Funding acquisition, Resources
Affiliations Department of Surgery, Harvard Medical School, Boston, Massachusetts, United States of America, Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts, United States of America
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Wendy K. Chung ,
Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – review & editing
* E-mail: wkc15@columbia.edu (WKC); ys2411@cumc.columbia.edu (YS)
Affiliations Department of Pediatrics Medical Center, Columbia University, New York, New York, United States of America, Department of Medicine, Columbia University, New York, New York, United States of America, Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, New York, United States of America
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Yufeng Shen
Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Supervision, Writing – review & editing
* E-mail: wkc15@columbia.edu (WKC); ys2411@cumc.columbia.edu (YS)
Affiliations Department of Systems Biology, Columbia University Medical Center, New York, New York, United States of America, Department of Biomedical Informatics, Columbia University Medical Center, New York, New York, United States of America, JP Sulzberger Columbia Genome Center, Columbia University Medical Center, New York, New York, United States of America
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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
- Hongjian Qi,
- Lan Yu,
- Xueya Zhou,
- Julia Wynn,
- Haoquan Zhao,
- Yicheng Guo,
- Na Zhu,
- Alexander Kitaygorodsky,
- Rebecca Hernan,
- Gudrun Aspelund
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- Published: December 10, 2018
- https://doi.org/10.1371/journal.pgen.1007822