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Open Access
Peer-reviewed
Research Article
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
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Krinio Giannikou ,
Contributed equally to this work with: Krinio Giannikou, Izabela A. Malinowska, Trevor J. Pugh
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Izabela A. Malinowska ,
Contributed equally to this work with: Krinio Giannikou, Izabela A. Malinowska, Trevor J. Pugh
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Trevor J. Pugh ,
Contributed equally to this work with: Krinio Giannikou, Izabela A. Malinowska, Trevor J. Pugh
Affiliation Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Rachel Yan,
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Yuen-Yi Tseng,
Affiliation Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Coyin Oh,
Affiliation Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Jaegil Kim,
Affiliation Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Magdalena E. Tyburczy,
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Yvonne Chekaluk,
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Yang Liu,
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Nicola Alesi,
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Geraldine A. Finlay,
Affiliation Tufts New England Medical Center, Boston, Massachusetts, United States of America
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Chin-Lee Wu,
Affiliation Massachusetts General Hospital, Boston, Massachusetts, United States of America
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Sabina Signoretti,
Affiliation Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Matthew Meyerson,
Affiliation Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Gad Getz,
Affiliation Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Jesse S. Boehm,
Affiliation Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Elizabeth P. Henske ,
* E-mail: EHENSKE@BWH.HARVARD.EDU (EPH); dk@rics.bwh.harvard.edu (DJK)
Affiliations Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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David J. Kwiatkowski
* E-mail: EHENSKE@BWH.HARVARD.EDU (EPH); dk@rics.bwh.harvard.edu (DJK)
Affiliations Division of Pulmonary and Critical Care Medicine and of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
- Krinio Giannikou,
- Izabela A. Malinowska,
- Trevor J. Pugh,
- Rachel Yan,
- Yuen-Yi Tseng,
- Coyin Oh,
- Jaegil Kim,
- Magdalena E. Tyburczy,
- Yvonne Chekaluk,
- Yang Liu
- Published: August 5, 2016
- https://doi.org/10.1371/journal.pgen.1006242