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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
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Qifei Li,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Software, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Division of Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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Michal Dibus,
Roles Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft
Affiliations Department of Cell Biology, Charles University in Prague, Viničná 7, Prague, Czech Republic, Department of Cell Biology, Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University (BIOCEV), Průmyslová 595, Vestec u Prahy, Czech Republic
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Alicia Casey,
Roles Data curation, Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Division of Pulmonary Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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Christina S. K. Yee,
Roles Data curation, Formal analysis, Investigation, Validation, Visualization, Writing – review & editing
Affiliation Division of Immunology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
⨯ - Sara O. Vargas,
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Shiyu Luo,
Roles Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing
Affiliations Division of Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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Samantha M. Rosen,
Roles Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing
Affiliations Division of Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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Jill A. Madden,
Roles Data curation, Investigation, Writing – review & editing
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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Casie A. Genetti,
Roles Data curation, Investigation, Writing – review & editing
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
⨯ - Jan Brabek,
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Catherine A. Brownstein,
Roles Investigation, Validation, Writing – review & editing
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
⨯ - Shideh Kazerounian,
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Benjamin A. Raby,
Roles Writing – review & editing
Affiliations Division of Pulmonary Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
⨯ - Klaus Schmitz-Abe,
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John C. Kennedy,
Roles Data curation, Investigation, Writing – review & editing
Affiliations Division of Pulmonary Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
⨯ - Martha P. Fishman,
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Mary P. Mullen,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Department of Cardiology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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Joan M. Taylor,
Roles Formal analysis, Resources, Writing – review & editing
Affiliation Dept. Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, United States of America
⨯ - Daniel Rosel,
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Pankaj B. Agrawal
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing
* E-mail: pagrawal@enders.tch.harvard.edu
Affiliations Division of Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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https://orcid.org/0000-0002-0069-8512
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
- Qifei Li,
- Michal Dibus,
- Alicia Casey,
- Christina S. K. Yee,
- Sara O. Vargas,
- Shiyu Luo,
- Samantha M. Rosen,
- Jill A. Madden,
- Casie A. Genetti,
- Jan Brabek
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- Published: July 7, 2021
- https://doi.org/10.1371/journal.pgen.1009639