第一单位：
Division of Pediatric Nephrology, UCLA, Los Angeles, CA 90095, USA.
作者：
Patricia L,Weng [1]
;
Amar J,Majmundar [2]
;
Kamal,Khan [3]
;
Tze Y,Lim [4]
;
Shirlee,Shril [2]
;
Gina,Jin [4]
;
John,Musgrove [5]
;
Minxian,Wang [6]
;
Dina F,Ahram [4]
;
Vimla S,Aggarwal [7]
;
Louise E,Bier [8]
;
Erin L,Heinzen [8]
;
Ana C,Onuchic-Whitford [9]
;
Nina,Mann [2]
;
Florian,Buerger [2]
;
Ronen,Schneider [2]
;
Konstantin,Deutsch [2]
;
Thomas M,Kitzler [2]
;
Verena,Klämbt [2]
;
Amy,Kolb [2]
;
Youying,Mao [2]
;
Christelle,Moufawad El Achkar [10]
;
Adele,Mitrotti [4]
;
Jeremiah,Martino [4]
;
Bodo B,Beck [11]
;
Janine,Altmüller [12]
;
Marcus R,Benz [13]
;
Shoji,Yano [14]
;
Mohamad A,Mikati [15]
;
Talha,Gunduz [15]
;
Heidi,Cope [16]
;
Vandana,Shashi [16]
;
Undiagnosed Diseases Network [17]
;
Howard,Trachtman [18]
;
Monica,Bodria [18]
;
Gianluca,Caridi [19]
;
Isabella,Pisani [19]
;
Enrico,Fiaccadori [20]
;
Asmaa S,AbuMaziad [21]
;
Julian A,Martinez-Agosto [1]
;
Ora,Yadin [22]
;
Jonathan,Zuckerman [23]
;
Arang,Kim [24]
;
UCLA Clinical Genomics Center [25]
;
Ulrike,John-Kroegel [25]
;
Amanda V,Tyndall [25]
;
Jillian S,Parboosingh [26]
;
A Micheil,Innes [27]
;
Agnieszka,Bierzynska [28]
;
Ania B,Koziell [26]
;
Mordi,Muorah [29]
;
Moin A,Saleem [30]
;
Julia,Hoefele [4]
;
Korbinian M,Riedhammer [31]
;
Ali G,Gharavi [32]
;
Vaidehi,Jobanputra [32]
;
Emma,Pierce-Hoffman [33]
;
Eleanor G,Seaby [32]
;
Anne,O'Donnell-Luria [34]
;
Heidi L,Rehm [35]
;
Shrikant,Mane [36]
;
Vivette D,D'Agati [18]
;
Martin R,Pollak [37]
;
Gian Marco,Ghiggeri [8]
;
Richard P,Lifton [38]
;
David B,Goldstein [39]
;
Erica E,Davis [40]
;
Friedhelm,Hildebrandt ;
Simone,Sanna-Cherchi
作者单位：
Division of Pediatric Nephrology, UCLA, Los Angeles, CA 90095, USA.
[1]
Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
[2]
Center for Disease Modeling, Duke University, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
[3]
Division of Nephrology, Columbia University, New York, NY 10032, USA.
[4]
Center for Disease Modeling, Duke University, Durham, NC 27701, USA; Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, NC 27705, USA.
[5]
Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
[6]
Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
[7]
Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA.
[8]
Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
[9]
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
[10]
Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
[11]
Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
[12]
Pediatric Nephrology Dachau, 85221 Dachau, Germany.
[13]
Genetics Division, Department of Pediatrics, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
[14]
Division of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC 27710, USA.
[15]
Department of Pediatrics, Division of Medical Genetics. Duke University Medical Center, Durham, NC 27710, USA.
[16]
Department of Pediatrics, Division of Nephrology, New York University Langone Health, New York, NY 10016, USA.
[17]
Division of Nephrology, Dialysis and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova GE, Italy.
[18]
U.O. Nefrologia, Azienda Ospedaliero-Universitaria di Parma and Dipartimento di Medicina e Chirurgia, Università di Parma, 43126 Parma PR, Italy.
[19]
Division of Pediatric Nephrology, University of Arizona-Tucson, AZ 85724, USA.
[20]
Department of Pediatrics, Division of Medical Genetics, UCLA, Los Angeles, CA 90095, USA; Department of Human Genetics, UCLA, Los Angeles, CA 90095, USA; Department of Psychiatry, UCLA, Los Angeles, CA 90095, USA.
[21]
Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90095, USA.
[22]
Department of Pediatrics, Division of Medical Genetics, UCLA, Los Angeles, CA 90095, USA.
[23]
Pediatric Nephrology, University Children`s Hospital, 07747 Jena, Germany.
[24]
Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
[25]
Bristol Renal, University of Bristol and Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK.
[26]
Department of Paediatric Nephrology, Evelina London, London SE1 7EH, UK; Faculty of Life Sciences, King's College London SE1 9RT, UK.
[27]
Renal Unit, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
[28]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
[29]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
[30]
Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA; New York Genome Center, New York, NY 10013, USA.
[31]
Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
[32]
Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
[33]
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06520, USA.
[34]
Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
[35]
Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA.
[36]
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06520, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA.
[37]
Center for Disease Modeling, Duke University, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
[38]
Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
[39]
Division of Nephrology, Columbia University, New York, NY 10032, USA. Electronic address: ss2517@cumc.columbia.edu.
[40]
DOI
10.1016/j.ajhg.2021.01.008
PMID
33508234
发布时间
2025-05-30
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