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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw-yang Hwang, Julian Schulz, Daniela A. Braun, Johanna Magdalena Schmidt, David Schapiro, Ronen Schneider, Jillian K. Warejko, Ankana Daga, Amar J. Majmundar, Weizhen Tan, Tilman Jobst-Schwan, Tobias Hermle, Eugen Widmeier, Shazia Ashraf, Ali Amar, Charlotte A. Hoogstraaten, Hannah Hugo, Thomas M. Kitzler, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Leslie Spaneas, Kassaundra Amann, Deborah R. Stein, Michelle A. Baum, Michael J.G. Somers, Nancy M. Rodig, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Radovan Bogdanović, Natasa Stajić, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Muna Al-Saffar, Hazem S. Awad, Loai A. Eid, Aravind Selvin, Prabha Senguttuvan, Simone Sanna-Cherchi, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Michael W. Wilson, Shrikant M. Mane, Richard P. Lifton, Richard S. Lee, Stuart B. Bauer, Weining Lu, Heiko M. Reutter, Velibor Tasic, Shirlee Shril and Friedhelm Hildebrandt
JASN August 2018, ASN.2017121265; DOI: https://doi.org/10.1681/ASN.2017121265
Amelie T. van der Ven
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Dervla M. Connaughton
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Hadas Ityel
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Nina Mann
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Makiko Nakayama
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Jing Chen
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Asaf Vivante
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Daw-yang Hwang
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Julian Schulz
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Daniela A. Braun
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Johanna Magdalena Schmidt
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
David Schapiro
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Ronen Schneider
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Jillian K. Warejko
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Ankana Daga
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Amar J. Majmundar
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Weizhen Tan
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Tilman Jobst-Schwan
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Tobias Hermle
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Eugen Widmeier
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Shazia Ashraf
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Ali Amar
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Charlotte A. Hoogstraaten
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Hannah Hugo
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Thomas M. Kitzler
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Franziska Kause
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Caroline M. Kolvenbach
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Rufeng Dai
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Leslie Spaneas
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Kassaundra Amann
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Deborah R. Stein
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Michelle A. Baum
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Michael J.G. Somers
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Nancy M. Rodig
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Michael A. Ferguson
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Avram Z. Traum
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Ghaleb H. Daouk
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Radovan Bogdanović
2Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia;
Natasa Stajić
2Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia;
Neveen A. Soliman
3Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Cairo University, Egypt;
4Egyptian Group for Orphan Renal Diseases, Cairo, Egypt;
Jameela A. Kari
5Department of Pediatrics and
6Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;
Sherif El Desoky
5Department of Pediatrics and
6Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;
Hanan M. Fathy
7Pediatric Nephrology Unit, University of Alexandria, Alexandria, Egypt;
Danko Milosevic
8University of Zagreb School of Medicine, University Hospital Center Zagreb, Zagreb, Croatia;
Muna Al-Saffar
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
9United Arab Emirates University, Abu Dhabi, United Arab Emirates;
Hazem S. Awad
10Pediatric Nephrology Department, Dubai Kidney Center Of Excellence, Dubai Hospital, Dubai, United Arab Emirates;
Loai A. Eid
10Pediatric Nephrology Department, Dubai Kidney Center Of Excellence, Dubai Hospital, Dubai, United Arab Emirates;
Aravind Selvin
11Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, The Tamil Nadu Dr. M.G.R. Medical University, Chennai, Tamil Nadu, India;
Prabha Senguttuvan
12Department of Pediatric Nephrology, Dr. Mehta’s Multi-Specialty Hospital, Chennai, Tamil Nadu, India;
Simone Sanna-Cherchi
13Division of Nephrology, Columbia University, New York, New York;
Heidi L. Rehm
14Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts;
Daniel G. MacArthur
14Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts;
15Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;
Monkol Lek
14Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts;
15Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;
Kristen M. Laricchia
15Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;
Michael W. Wilson
15Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;
Shrikant M. Mane
16Department of Genetics, Yale University School of Medicine, New Haven, Connecticut;
Richard P. Lifton
16Department of Genetics, Yale University School of Medicine, New Haven, Connecticut;
17Rockefeller University, New York, New York;
Richard S. Lee
18Department of Urology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts;
Stuart B. Bauer
18Department of Urology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts;
Weining Lu
19Renal Section, Department of Medicine and Pathology, Boston University Medical Center, Boston, Massachusetts;
Heiko M. Reutter
20Institute of Human Genetics and
21Department of Neonatology and Pediatric Intensive Care, Children’s Hospital, University of Bonn, Bonn, Germany; and
Velibor Tasic
22Medical Faculty Skopje, University Children’s Hospital, Skopje, Macedonia
Shirlee Shril
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
Friedhelm Hildebrandt
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;