第一单位：
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
作者：
Frederike Leonie,Harms [1]
;
Katta M,Girisha [2]
;
Andrew A,Hardigan [3]
;
Fanny,Kortüm [1]
;
Anju,Shukla [2]
;
Malik,Alawi [4]
;
Ashwin,Dalal [5]
;
Lauren,Brady [6]
;
Mark,Tarnopolsky [6]
;
Lynne M,Bird [7]
;
Sophia,Ceulemans [8]
;
Martina,Bebin [9]
;
Kevin M,Bowling [10]
;
Susan M,Hiatt [10]
;
Edward J,Lose [11]
;
Michelle,Primiano [12]
;
Wendy K,Chung [12]
;
Jane,Juusola [13]
;
Zeynep C,Akdemir [14]
;
Matthew,Bainbridge [15]
;
Wu-Lin,Charng [14]
;
Margaret,Drummond-Borg [16]
;
Mohammad K,Eldomery [14]
;
Ayman W,El-Hattab [17]
;
Mohammed A M,Saleh [18]
;
Stéphane,Bézieau [19]
;
Benjamin,Cogné [19]
;
Bertrand,Isidor [20]
;
Sébastien,Küry [19]
;
James R,Lupski [14]
;
Richard M,Myers [10]
;
Gregory M,Cooper [21]
;
Kerstin,Kutsche [22]
作者单位：
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
[1]
Department of Medical Genetics, Kasturba Medical College, Manipal University, 576104 Manipal, India.
[2]
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
[3]
Bioinformatics Service Facility, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Center for Bioinformatics, University of Hamburg, 20246 Hamburg, Germany; Virus Genomics, Heinrich Pette Institute, Leibniz Institute for Experimental Virology, 20246 Hamburg, Germany.
[4]
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, 500001 Hyderabad, Telangana, India.
[5]
Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada.
[6]
Department of Pediatrics, University of California, San Diego, San Diego, CA 92123, USA; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA 92123, USA.
[7]
Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA 92123, USA.
[8]
Department of Neurology, University of Alabama at Birmingham, Birmingham, AL35294, USA.
[9]
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
[10]
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
[11]
Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
[12]
GeneDx, Gaithersburg, MD 20877, USA.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[14]
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
[15]
Cook Children's Genetic Clinic, Fort Worth, TX 76102, USA.
[16]
Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, 15258 Al-Ain, United Arab Emirates.
[17]
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, 11564 Riyadh, Saudi Arabia.
[18]
Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France.
[19]
Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France; INSERM UMR-S 957, 44035 Nantes, France.
[20]
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
[21]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kkutsche@uke.de.
[22]
DOI
10.1016/j.ajhg.2016.11.012
PMID
28017373
发布时间
2023-11-12
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