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换一批
作者：
Jil D,Stegmann [1]
;
Jeshurun C,Kalanithy [2]
;
Gabriel C,Dworschak [3]
;
Nina,Ishorst [2]
;
Enrico,Mingardo [4]
;
Filipa M,Lopes [5]
;
Yee Mang,Ho [5]
;
Phillip,Grote [6]
;
Tobias T,Lindenberg [7]
;
Öznur,Yilmaz [7]
;
Khadija,Channab [4]
;
Steve,Seltzsam [8]
;
Shirlee,Shril [8]
;
Friedhelm,Hildebrandt [8]
;
Felix,Boschann [9]
;
André,Heinen [10]
;
Angad,Jolly [11]
;
Katherine,Myers [12]
;
Kim,McBride [12]
;
Mir Reza,Bekheirnia [13]
;
Nasim,Bekheirnia [14]
;
Marcello,Scala [15]
;
Manuela,Morleo [16]
;
Vincenzo,Nigro [16]
;
Annalaura,Torella [16]
;
TUDP consortium [17]
;
Michele,Pinelli [18]
;
Valeria,Capra [19]
;
Andrea,Accogli [20]
;
Silvia,Maitz [21]
;
Alice,Spano [22]
;
Rory J,Olson [23]
;
Eric W,Klee [24]
;
Brendan C,Lanpher [25]
;
Se Song,Jang [26]
;
Jong-Hee,Chae [27]
;
Philipp,Steinbauer [28]
;
Dietmar,Rieder [29]
;
Andreas R,Janecke [30]
;
Julia,Vodopiutz [31]
;
Ida,Vogel [32]
;
Jenny,Blechingberg [33]
;
Jennifer L,Cohen [34]
;
Kacie,Riley [35]
;
Victoria,Klee [35]
;
Laurence E,Walsh [36]
;
Matthias,Begemann [36]
;
Miriam,Elbracht [36]
;
Thomas,Eggermann [37]
;
Arzu,Stoppe [38]
;
Kyra,Stuurman [38]
;
Marjon,van Slegtenhorst [38]
;
Tahsin Stefan,Barakat [39]
;
Maureen S,Mulhern [40]
;
Tristan T,Sands [41]
;
Cheryl,Cytrynbaum [42]
;
Rosanna,Weksberg [43]
;
Federica,Isidori [43]
;
Tommaso,Pippucci [43]
;
Giulia,Severi [43]
;
Francesca,Montanari [44]
;
Michael C,Kruer [44]
;
Somayeh,Bakhtiari [45]
;
Hossein,Darvish [46]
;
Heiko,Reutter [47]
;
Gregor,Hagelueken [47]
;
Matthias,Geyer [48]
;
Adrian S,Woolf [49]
;
Jennifer E,Posey [50]
;
James R,Lupski [51]
;
Benjamin,Odermatt [52]
;
Alina C,Hilger
作者单位：
Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. jil.stegmann@uni-bonn.de.;Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany. jil.stegmann@uni-bonn.de.
[1]
Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.;Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
[2]
Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.;Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.;Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany.
[3]
Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
[4]
Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.
[5]
Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany.
[6]
Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
[7]
Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
[8]
Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
[9]
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
[10]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.;Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.
[11]
Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.
[12]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.;Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.
[13]
Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
[14]
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.;U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
[15]
Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.;Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
[16]
Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.;Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy.
[17]
Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy.
[18]
Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.;Department of Human Genetics, McGill University, Montreal, QC, Canada.
[19]
Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.
[20]
MBBM Foundation, Monza, Italy.
[21]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
[22]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.;Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.;Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
[23]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.;Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
[24]
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
[25]
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.;Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.
[26]
Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.
[27]
Division of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria.
[28]
Department of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.;Division of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.
[29]
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria.
[30]
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.;Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
[31]
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
[32]
Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.
[33]
Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
[34]
Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.
[35]
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
[36]
Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.
[37]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[38]
Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.;Department of Pathology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.
[39]
Division of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.;Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.;Institute for Genomic Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.
[40]
Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.;Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.
[41]
Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.;Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
[42]
U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
[43]
Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.;Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.
[44]
Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
[45]
Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.;Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.;Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
[46]
Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.
[47]
Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.;Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
[48]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
[49]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.;Texas Children's Hospital, Houston, TX, 77030, USA.
[50]
Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.;Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
[51]
Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany. alina.hilger@uk-erlangen.de.;Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, 91054, Erlangen, Germany. alina.hilger@uk-erlangen.de.
[52]
DOI
10.1038/s41525-024-00398-9
PMID
38429302
发布时间
2025-01-04
- 浏览0
NPJ genomic medicine
NPJ genomic medicine
2024年9卷1期
18页
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