作者：
Yue,Huang [1]
;
Kristy L,Jay [2]
;
Alden,Yen-Wen Huang [1]
;
Jijun,Wan [1]
;
Sharayu V,Jangam [2]
;
Odelia,Chorin [3]
;
Annick,Rothschild [3]
;
Ortal,Barel [4]
;
Milena,Mariani [5]
;
Maria,Iascone [6]
;
Han,Xue [7]
;
Undiagnosed Diseases Network [7]
;
Jing,Huang [8]
;
Cyril,Mignot [9]
;
Boris,Keren [10]
;
Virginie,Saillour [11]
;
Annelise Y,Mah-Som [12]
;
Stephanie,Sacharow [13]
;
Farrah,Rajabi [14]
;
Carrie,Costin [2]
;
Shinya,Yamamoto [2]
;
Oguz,Kanca [2]
;
Hugo J,Bellen [15]
;
Jill A,Rosenfeld [16]
;
Christina G S,Palmer [1]
;
Stanley F,Nelson [17]
;
Michael F,Wangler [18]
;
Julian A,Martinez-Agosto
作者单位：
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA.
[1]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX.
[2]
Institute for Rare Diseases, Sheba Medical Center, Tel HaShomer, Ramat Gan, Israel.
[3]
Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel HaShomer, Israel; Sheba Medical Center, Wohl Institute of Translational Medicine, Ramat Gan, Israel.
[4]
Pediatric Department, ASST Lariana, Santa Anna General Hospital, Italy.
[5]
Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
[6]
Shanghai Institute of Precision Medicine at Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
[7]
AP-HP Sorbonne Université, Département de Génétique, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, France.
[8]
Genetic Department, GCS SeqOIA, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
[9]
Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.
[10]
Harvard Medical School Genetics Training Program, Boston, MA.
[11]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
[12]
Section of Clinical Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, CO.
[13]
Division of Medical Genetics, Akron Children's Hospital, Akron, OH.
[14]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.
[15]
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA.
[16]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX. Electronic address: michael.wangler@bcm.edu.
[17]
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA. Electronic address: julianmartinez@mednet.ucla.edu.
[18]
DOI
10.1016/j.gim.2024.101218
PMID
39036895
发布时间
2025-01-04
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