Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Kitzler TM"'
Autor:
Sentell ZT; Department of Human Genetics, McGill University, Montreal, Canada.; The Research Institute of the McGill University Health Centre, Montreal, Canada., Nurcombe ZW; Department of Human Genetics, McGill University, Montreal, Canada.; The Research Institute of the McGill University Health Centre, Montreal, Canada., Mougharbel L; The Research Institute of the McGill University Health Centre, Montreal, Canada., Anastasio N; Department of Human Genetics, McGill University, Montreal, Canada., Rivière JB; The Research Institute of the McGill University Health Centre, Montreal, Canada., Babayeva S; Department of Medicine, McGill University Health Centre, Montreal, Canada., Goodyer PR; Department of Pediatrics, Division of Nephrology, McGill University Health Centre, Montreal, Canada., Torban E; Department of Medicine, McGill University Health Centre, Montreal, Canada., Kitzler TM; Department of Human Genetics, McGill University, Montreal, Canada. thomas.kitzler@mcgill.ca.; The Research Institute of the McGill University Health Centre, Montreal, Canada. thomas.kitzler@mcgill.ca.; Division of Medical Genetics, McGill University Health Centre, Montreal, Canada. thomas.kitzler@mcgill.ca.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1184-1189. Date of Electronic Publication: 2024 Jul 10.
Autor:
Kalot R; Department of Medicine and Department of Physiology, McGill University, Montreal, QC, Canada.; The Research Institute of the McGill University Health Center, Montreal, QC, Canada., Sentell Z; Department of Human Genetics, McGill University, Montreal, QC, Canada., Kitzler TM; Department of Human Genetics, McGill University, Montreal, QC, Canada.; McGill University Health Center, Montreal, QC, Canada., Torban E; Department of Medicine and Department of Physiology, McGill University, Montreal, QC, Canada.; The Research Institute of the McGill University Health Center, Montreal, QC, Canada.
Publikováno v:
Frontiers in nephrology [Front Nephrol] 2024 Jan 16; Vol. 3, pp. 1331847. Date of Electronic Publication: 2024 Jan 16 (Print Publication: 2023).
Autor:
Deutsch K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Klämbt V; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin 13353, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin 10178, Germany., Kitzler TM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Jobst-Schwan T; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Schneider R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Buerger F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Seltzsam S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., El Desoky S; Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia., Kari JA; Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia., Hafeez F; Department of Pediatric Nephrology, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Szczepańska M; Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice 40-752, Poland., Eid LA; Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates., Awad HS; Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates., Al-Saffar M; Department of Genetics and Genomics, UAE University, Abu Dhabi 15551, United Arab Emirates.; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt.; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo 11511, Egypt., Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia., Nicolas-Frank C; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Yousef K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Schierbaum LM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Schneider S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Halawi A; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Elmubarak I; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Lemberg K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Mane SM; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Rodig N; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Publikováno v:
Genes & diseases [Genes Dis] 2023 Sep 15; Vol. 11 (5), pp. 101111. Date of Electronic Publication: 2023 Sep 15 (Print Publication: 2024).
Autor:
Kitzler TM; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Chun J; Department of Medicine, Cumming School of Medicine, Snyder Institute for Chronic Diseases, University of Calgary, AB, Canada.
Publikováno v:
Canadian journal of kidney health and disease [Can J Kidney Health Dis] 2023 Feb 13; Vol. 10, pp. 20543581231154185. Date of Electronic Publication: 2023 Feb 13 (Print Publication: 2023).
Autor:
Wang C; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Seltzsam S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Zheng B; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China., Wu CW; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Departments of Urology and Genetics, Case Western Reserve University and University Hospitals, Cleveland, Ohio, USA., Nicolas-Frank C; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Yousef K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Au KS; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, Texas, USA., Mann N; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Pantel D; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schneider S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schierbaum L; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kitzler TM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Connaughton DM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Mao Y; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Dai R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Nakayama M; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kari JA; Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., El Desoky S; Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Shalaby M; Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Eid LA; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates., Awad HS; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates., Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje, North Macedonia., Mane SM; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Baum MA; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Estrada CR; Department of Urology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Surgery, Harvard Medical School, Boston, Massachusetts, USA., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 May; Vol. 188 (5), pp. 1355-1367. Date of Electronic Publication: 2022 Jan 18.
Autor:
Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France. ange-line.bruel@u-bourgogne.fr.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. ange-line.bruel@u-bourgogne.fr., Vitobello A; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Manwaring L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Willing M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Agrawal PB; Divisions of Newborn Medicine, Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Bayat A; Department of Genetics and Precision Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Kitzler TM; Research Institute, McGill University Health Centre, Montreal, QC, Canada.; Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Brownstein CA; Divisions of Newborn Medicine, Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Genetti CA; Divisions of Newborn Medicine, Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Gonzalez-Heydrich J; Department of Psychiatry, Boston Children's Hospital, Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Zyskind JW; GeneDX, Gaitherburg, MD, USA., Zhu Z; GeneDX, Gaitherburg, MD, USA., Vachet C; Service de néphrologie pédiatrique, Centre Hospitalier Régional Universitaire Besançon, Besançon, France., Wilson GR; Division of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, AZ, USA., Pruniski B; Division of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, AZ, USA., Goyette AM; FRCPC, Developmental Pediatrician, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada., Duffourd Y; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Thauvin-Robinet C; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Philippe C; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Faivre L; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 111-116. Date of Electronic Publication: 2021 Oct 28.
Autor:
Kolvenbach CM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany., van der Ven AT; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kause F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany., Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannia Gaslini, University of Genoa, Genoa, Italy., Connaughton DM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Mann N; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Nakayama M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Dai R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kitzler TM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schneider R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schierbaum L; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany., Schneider S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany., Accogli A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Piatelli G; Department of Neurosurgery, Gaslini Children's Hospital, Genoa, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Capra V; Medical Genetics Unit, IRCCS Gianna Gaslini Institute, Genoa, Italy., Hoppe B; Kindernierenzentrum Bonn, Bonn, Germany., Märzheuser S; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany., Schmiedeke E; Department of Pediatric Surgery and Urology, Center for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany., Rehm HL; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA., Dworschak GC; Department of Pediatrics, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Hilger AC; Department of Pediatrics, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University Hospital Erlangen, Erlangen, Germany., Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3784-3792. Date of Electronic Publication: 2021 Aug 02.
Autor:
Mann N; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Mzoughi S; Methyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore.; Mount 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., Schneider R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Kühl SJ; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany., Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Klämbt V; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Lovric S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Mao Y; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Shi S; Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France., Tan W; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Kühl M; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany., Onuchic-Whitford AC; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Treimer E; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany., Kitzler TM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Kause F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Schumann S; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany., Nakayama M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Buerger F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., van der Ven AT; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Majmundar AJ; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Holton KM; Research Computing, Harvard Medical School, Boston, Massachusetts., Kolb A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Rao J; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Jobst-Schwan T; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Mildenberger E; Division of Neonatology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany., Lennert T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kuechler A; Institute of Human Genetics, University of Duisburg-Essen, Essen, Germany., Wieczorek D; Institute of Human Genetics, Faculty of Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Gross O; Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany., Ermisch-Omran B; Department of Pediatric Nephrology, University Children's Hospital, Münster, Germany., Werberger A; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany., Skalej M; Institute of Neuroradiology, Otto von Guericke University Magdeburg, Magdeburg, Germany., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.; The Egyption Group for Orphan Renal Diseases (EGORD), Cairo, Egypt., Mane SM; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York., Kadlec J; Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France., Guccione E; Methyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore.; Mount 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., Schmeisser MJ; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.; Focus Program Translational Neurosciences, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany martin.zenker@med.ovgu.de friedhelm.hildebrandt@childrens.harvard.edu., Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts martin.zenker@med.ovgu.de friedhelm.hildebrandt@childrens.harvard.edu.
Publikováno v:
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2021 Mar; Vol. 32 (3), pp. 580-596. Date of Electronic Publication: 2021 Feb 16.
Autor:
Weng PL; Division of Pediatric Nephrology, UCLA, Los Angeles, CA 90095, USA., Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Khan K; 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., Lim TY; Division of Nephrology, Columbia University, New York, NY 10032, USA., Shril S; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Jin G; Division of Nephrology, Columbia University, New York, NY 10032, USA., Musgrove J; 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., Wang M; 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., Ahram DF; Division of Nephrology, Columbia University, New York, NY 10032, USA., Aggarwal VS; Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA., Bier LE; Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA., Heinzen EL; Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA., Onuchic-Whitford AC; 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., Mann N; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Buerger F; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Schneider R; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Deutsch K; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Klämbt V; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Kolb A; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Mao Y; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Moufawad El Achkar C; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Mitrotti A; Division of Nephrology, Columbia University, New York, NY 10032, USA., Martino J; Division of Nephrology, Columbia University, New York, NY 10032, USA., Beck BB; 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., Altmüller J; 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., Benz MR; Pediatric Nephrology Dachau, 85221 Dachau, Germany., Yano S; 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., Mikati MA; Division of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC 27710, USA., Gunduz T; Division of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC 27710, USA., Cope H; Department of Pediatrics, Division of Medical Genetics. Duke University Medical Center, Durham, NC 27710, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics. Duke University Medical Center, Durham, NC 27710, USA., Trachtman H; Department of Pediatrics, Division of Nephrology, New York University Langone Health, New York, NY 10016, USA., Bodria M; Division of Nephrology, Dialysis and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova GE, Italy., Caridi G; Division of Nephrology, Dialysis and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova GE, Italy., Pisani I; U.O. Nefrologia, Azienda Ospedaliero-Universitaria di Parma and Dipartimento di Medicina e Chirurgia, Università di Parma, 43126 Parma PR, Italy., Fiaccadori E; U.O. Nefrologia, Azienda Ospedaliero-Universitaria di Parma and Dipartimento di Medicina e Chirurgia, Università di Parma, 43126 Parma PR, Italy., AbuMaziad AS; Division of Pediatric Nephrology, University of Arizona-Tucson, AZ 85724, USA., Martinez-Agosto JA; 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., Yadin O; Division of Pediatric Nephrology, UCLA, Los Angeles, CA 90095, USA., Zuckerman J; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90095, USA., Kim A; Department of Pediatrics, Division of Medical Genetics, UCLA, Los Angeles, CA 90095, USA., John-Kroegel U; Pediatric Nephrology, University Children`s Hospital, 07747 Jena, Germany., Tyndall AV; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada., Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada., Bierzynska A; Bristol Renal, University of Bristol and Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK., Koziell AB; Department of Paediatric Nephrology, Evelina London, London SE1 7EH, UK; Faculty of Life Sciences, King's College London SE1 9RT, UK., Muorah M; Renal Unit, Birmingham Children's Hospital, Birmingham, B4 6NH, UK., Saleem MA; Bristol Renal, University of Bristol and Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Riedhammer KM; 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., Gharavi AG; Division of Nephrology, Columbia University, New York, NY 10032, USA., Jobanputra V; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA; New York Genome Center, New York, NY 10013, USA., Pierce-Hoffman E; Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Seaby EG; Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., O'Donnell-Luria A; 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., Rehm HL; Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Mane S; 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., D'Agati VD; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA., Pollak MR; Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA., Ghiggeri GM; Division of Nephrology, Dialysis and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova GE, Italy., Lifton RP; 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., Goldstein DB; Institute of Genomic Medicine, Columbia University, New York, NY 10032, USA., Davis EE; 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., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu., Sanna-Cherchi S; Division of Nephrology, Columbia University, New York, NY 10032, USA. Electronic address: ss2517@cumc.columbia.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Feb 04; Vol. 108 (2), pp. 357-367. Date of Electronic Publication: 2021 Jan 27.
Autor:
Matsuda J; Division of Nephrology, McGill University Health Centre, Montreal, Quebec, Canada; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada., Asano-Matsuda K; Division of Nephrology, McGill University Health Centre, Montreal, Quebec, Canada; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada., Kitzler TM; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Takano T; Division of Nephrology, McGill University Health Centre, Montreal, Quebec, Canada; Research Institute, McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: tomoko.takano@mcgill.ca.
Publikováno v:
Kidney international [Kidney Int] 2021 Feb; Vol. 99 (2), pp. 336-345. Date of Electronic Publication: 2020 Oct 26.