第一单位：
Clinique de Génétique, CHU de Lille, Lille, France; EA7364 RADEME, Université de Lille, Lille, France.
作者：
Florence,Petit [1]
;
Mauro,Longoni [2]
;
Julie,Wells [3]
;
Richard S,Maser [3]
;
Eric L,Bogenschutz [3]
;
Matthew J,Dysart [4]
;
Hannah T M,Contreras [4]
;
Frederic,Frénois [5]
;
Barbara R,Pober [6]
;
Robin D,Clark [7]
;
Philip F,Giampietro [8]
;
Hilger H,Ropers [9]
;
Hao,Hu [9]
;
Maria,Loscertales [2]
;
Richard,Wagner [10]
;
Xingbin,Ai [6]
;
Harrison,Brand [11]
;
Anne-Sophie,Jourdain [5]
;
Marie-Ange,Delrue [12]
;
Brigitte,Gilbert-Dussardier [13]
;
Louise,Devisme [14]
;
Boris,Keren [15]
;
David J,McCulley [16]
;
Lu,Qiao [17]
;
Rebecca,Hernan [17]
;
Julia,Wynn [17]
;
Tiana M,Scott [18]
;
Daniel G,Calame [19]
;
Zeynep,Coban-Akdemir [20]
;
Patricia,Hernandez [21]
;
Andres,Hernandez-Garcia [22]
;
Hagith,Yonath [23]
;
James R,Lupski [24]
;
Yufeng,Shen [25]
;
Wendy K,Chung [26]
;
Daryl A,Scott [27]
;
Carol J,Bult [3]
;
Patricia K,Donahoe [2]
;
Frances A,High [28]
作者单位：
Clinique de Génétique, CHU de Lille, Lille, France; EA7364 RADEME, Université de Lille, Lille, France.
[1]
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.
[2]
The Jackson Laboratory, Bar Harbor, ME, USA.
[3]
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.
[4]
EA7364 RADEME, Université de Lille, Lille, France.
[5]
Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
[6]
Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
[7]
University of Illinois-Chicago, Chicago, IL, USA.
[8]
Max Planck Institute for Molecular Genetics, Berlin, Germany.
[9]
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany.
[10]
Department of Neurology, Harvard Medical School, Boston, MA, USA.
[11]
Service de Génétique, CHU de Bordeaux, Bordeaux, France.
[12]
Service de Génétique, CHU de Poitiers, Université de Poitiers, EA3808, Poitiers, France.
[13]
Institut de Pathologie, CHU de Lille, Lille, France.
[14]
Département de Génétique, Hôpital Pitié Salpétrière, CHU de Paris, Paris, France.
[15]
Department of Pediatrics, University of California, San Diego, San Diego, CA, USA.
[16]
Department of Pediatrics, Columbia University, New York, NY, USA.
[17]
Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA.
[18]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
[19]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, the University of Texas Health Science Center at Houston, Houston, TX, USA.
[20]
IDDRC/TCC, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[21]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[22]
Internal Medicine A and Genetics Institute, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
[23]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
[24]
Department of Systems Biology, Columbia University, New York, NY, USA.
[25]
Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
[26]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
[27]
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Boston Children's Hospital, Boston, MA, USA. Electronic address: fhigh@mgb.org.
[28]
DOI
10.1016/j.ajhg.2023.09.002
PMID
37751738
发布时间
2025-03-22
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