第一单位：
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.;Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
作者：
Diane D,Shao [1]
;
Rachel,Straussberg [2]
;
Hind,Ahmed [3]
;
Amjad,Khan [3]
;
Songhai,Tian [4]
;
R Sean,Hill [5]
;
Richard S,Smith [6]
;
Amar J,Majmundar [7]
;
Najim,Ameziane [8]
;
Jennifer E,Neil [5]
;
Edward,Yang [9]
;
Amal,Al Tenaiji [10]
;
Saumya S,Jamuar [11]
;
Thorsten M,Schlaeger [12]
;
Muna,Al-Saffar [13]
;
Iris,Hovel [8]
;
Aisha,Al-Shamsi [14]
;
Lina,Basel-Salmon [15]
;
Achiya Z,Amir [16]
;
Lariza M,Rento [5]
;
Jiin Ying,Lim [11]
;
Indra,Ganesan [17]
;
Shirlee,Shril [7]
;
Gilad,Evrony [18]
;
A James,Barkovich [19]
;
Peter,Bauer [8]
;
Friedhelm,Hildebrandt [7]
;
Min,Dong [4]
;
Guntram,Borck [20]
;
Christian,Beetz [8]
;
Lihadh,Al-Gazali [21]
;
Wafaa,Eyaid [3]
;
Christopher A,Walsh [22]
作者单位：
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.;Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
[1]
Neurogenetics Clinic, Neurology Unit, Schneider Children Medical Center, Petah Tikvah, Israel.;Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
[2]
Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
[3]
Department of Urology, Boston Children's Hospital, and Department of Surgery and Department of Microbiology, Harvard Medical School, Boston, MA, USA.
[4]
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.;Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
[5]
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
[6]
Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
[7]
Centogene AG, Rostock, Germany.
[8]
Department of Radiology, Boston Children's Hospital, Boston, MA, USA.
[9]
Medical Institute of Medical Affairs, Sheikh Khalifa Medica City, Abu Dhabi, UAE.
[10]
Department of Pediatrics, KK Women's and Children's Hospital, Ramat Aviv, Israel.;SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
[11]
Stem Cell Program, Boston Children's Hospital, Harvard Medical School, and Harvard Stem Cell Institute, Harvard University, Boston, MA, USA.
[12]
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.;Department of Pediatrics, United Arab Emirates University, Abu Dhabi, UAE.
[13]
Division of Genetics, Department of Pediatrics, Tawam Hospital, Al Ain, UAE.
[14]
Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.;Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital and Pediatric Genetics Clinic, Schneider Children's Medical Center, and Felsenstein Medical Research Center, Petah Tikvah, Israel.
[15]
Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.;Pediatric Gastroenterology, Hepatology and Nutrition Clinic, Dana-Dwek Children's Hospital, Tel Aviv Medical Center, Ramat Aviv, Israel.
[16]
Department of Pediatrics, KK Women's and Children's Hospital, Ramat Aviv, Israel.
[17]
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.;New York University School of Medicine, Center for Human Genetics & Genomics, New York, NY, USA.
[18]
Neuroradiology, University of California at San Francisco, San Francisco, CA, USA.
[19]
Center for Rare Diseases (ZSE Ulm), Ulm University Medical Center, Ulm, Germany.;genetikum, Neu-Ulm, Germany.
[20]
Department of Pediatrics, United Arab Emirates University, Al Ain, UAE.
[21]
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. Christopher.Walsh@childrens.harvard.edu.;Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. Christopher.Walsh@childrens.harvard.edu.
[22]
DOI
10.1038/s41436-021-01097-x
PMID
33531666
发布时间
2025-02-14
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