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Basic Research
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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Nina Mann, Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt, Svjetlana Lovric, Youying Mao, Shasha Shi, Weizhen Tan, Michael Kühl, Ana C. Onuchic-Whitford, Ernestine Treimer, Thomas M. Kitzler, Franziska Kause, Sven Schumann, Makiko Nakayama, Florian Buerger, Shirlee Shril, Amelie T. van der Ven, Amar J. Majmundar, Kristina Marie Holton, Amy Kolb, Daniela A. Braun, Jia Rao, Tilman Jobst-Schwan, Eva Mildenberger, Thomas Lennert, Alma Kuechler, Dagmar Wieczorek, Oliver Gross, Beate Ermisch-Omran, Anja Werberger, Martin Skalej, Andreas R. Janecke, Neveen A. Soliman, Shrikant M. Mane, Richard P. Lifton, Jan Kadlec, Ernesto Guccione, Michael J. Schmeisser, Martin Zenker and Friedhelm Hildebrandt
JASN March 2021, 32 (3) 580-596; DOI: https://doi.org/10.1681/ASN.2020040490
Nina Mann
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Slim Mzoughi
2Methyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore
3Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences and Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, New York
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Ronen Schneider
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Susanne J. Kühl
4Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany
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Denny Schanze
5Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
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Verena Klämbt
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Svjetlana Lovric
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Youying Mao
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Shasha Shi
6Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France
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Weizhen Tan
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Michael Kühl
4Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany
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Ana C. Onuchic-Whitford
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
7Renal Division, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts
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Ernestine Treimer
8Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany
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Thomas M. Kitzler
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Franziska Kause
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Sven Schumann
8Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany
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Makiko Nakayama
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Florian Buerger
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Shirlee Shril
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Amelie T. van der Ven
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Amar J. Majmundar
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Kristina Marie Holton
9Research Computing, Harvard Medical School, Boston, Massachusetts
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Amy Kolb
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Daniela A. Braun
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Jia Rao
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Tilman Jobst-Schwan
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Eva Mildenberger
10Division of Neonatology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany
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Thomas Lennert
11Department of Pediatrics, Charité – Universitätsmedizin Berlin, Berlin, Germany
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Alma Kuechler
12Institute of Human Genetics, University of Duisburg-Essen, Essen, Germany
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Dagmar Wieczorek
13Institute of Human Genetics, Faculty of Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany
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Oliver Gross
14Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany
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Beate Ermisch-Omran
15Department of Pediatric Nephrology, University Children’s Hospital, Münster, Germany
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Anja Werberger
4Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany
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Martin Skalej
16Institute of Neuroradiology, Otto von Guericke University Magdeburg, Magdeburg, Germany
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Andreas R. Janecke
17Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria
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Neveen A. Soliman
18Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt
19The Egyption Group for Orphan Renal Diseases (EGORD), Cairo, Egypt
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Shrikant M. Mane
20Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
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Richard P. Lifton
20Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
21Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York
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Jan Kadlec
6Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France
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Ernesto Guccione
2Methyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore
3Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences and Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, New York
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Michael J. Schmeisser
8Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany
22Focus Program Translational Neurosciences, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany
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Martin Zenker
5Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
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Friedhelm Hildebrandt
1Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
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Journal of the American Society of Nephrology: 32 (3)
Journal of the American Society of Nephrology
Vol. 32, Issue 3
March 2021
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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
Nina Mann, Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt, Svjetlana Lovric, Youying Mao, Shasha Shi, Weizhen Tan, Michael Kühl, Ana C. Onuchic-Whitford, Ernestine Treimer, Thomas M. Kitzler, Franziska Kause, Sven Schumann, Makiko Nakayama, Florian Buerger, Shirlee Shril, Amelie T. van der Ven, Amar J. Majmundar, Kristina Marie Holton, Amy Kolb, Daniela A. Braun, Jia Rao, Tilman Jobst-Schwan, Eva Mildenberger, Thomas Lennert, Alma Kuechler, Dagmar Wieczorek, Oliver Gross, Beate Ermisch-Omran, Anja Werberger, Martin Skalej, Andreas R. Janecke, Neveen A. Soliman, Shrikant M. Mane, Richard P. Lifton, Jan Kadlec, Ernesto Guccione, Michael J. Schmeisser, Martin Zenker, Friedhelm Hildebrandt
JASN Mar 2021, 32 (3) 580-596; DOI: 10.1681/ASN.2020040490

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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
Nina Mann, Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt, Svjetlana Lovric, Youying Mao, Shasha Shi, Weizhen Tan, Michael Kühl, Ana C. Onuchic-Whitford, Ernestine Treimer, Thomas M. Kitzler, Franziska Kause, Sven Schumann, Makiko Nakayama, Florian Buerger, Shirlee Shril, Amelie T. van der Ven, Amar J. Majmundar, Kristina Marie Holton, Amy Kolb, Daniela A. Braun, Jia Rao, Tilman Jobst-Schwan, Eva Mildenberger, Thomas Lennert, Alma Kuechler, Dagmar Wieczorek, Oliver Gross, Beate Ermisch-Omran, Anja Werberger, Martin Skalej, Andreas R. Janecke, Neveen A. Soliman, Shrikant M. Mane, Richard P. Lifton, Jan Kadlec, Ernesto Guccione, Michael J. Schmeisser, Martin Zenker, Friedhelm Hildebrandt
JASN Mar 2021, 32 (3) 580-596; DOI: 10.1681/ASN.2020040490
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