第一单位：
GeneDx, Gaithersburg, MD 20877, USA; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA. Electronic address: smullegama@genedx.com.
作者：
Sureni V,Mullegama [1]
;
Kaitlyn A,Kiernan [2]
;
Erin,Torti [3]
;
Ethan,Pavlovsky [4]
;
Nicholas,Tilton [4]
;
Austin,Sekula [4]
;
Hua,Gao [3]
;
Joseph T,Alaimo [5]
;
Kendra,Engleman [6]
;
Eric T,Rush [7]
;
Karli,Blocker [8]
;
Katrina M,Dipple [9]
;
Veronica M,Fettig [10]
;
Heather,Hare [11]
;
Ian,Glass [9]
;
Dorothy K,Grange [12]
;
Michael,Griffin [4]
;
Chanika,Phornphutkul [13]
;
Lauren,Massingham [13]
;
Lakshmi,Mehta [14]
;
Danny E,Miller [9]
;
Jenny,Thies [15]
;
J Lawrence,Merritt [9]
;
Eric,Muller [8]
;
Matthew,Osmond [16]
;
Sarah L,Sawyer [17]
;
Rachel,Slaugh [12]
;
Rachel E,Hickey [18]
;
Barry,Wolf [18]
;
Care4Rare Canada Consortium [4]
;
Undiagnosed Diseases Network [2]
;
Sanjeev,Choudhary [19]
;
Miljan,Simonović [3]
;
Yueqing,Zhang [3]
;
Timothy Blake,Palculict [3]
;
Aida,Telegrafi [3]
;
Deanna Alexis,Carere [3]
;
Ingrid M,Wentzensen [3]
;
Michelle M,Morrow [20]
;
Kristin G,Monaghan [3]
;
Jun,Yang ;
Jane,Juusola
作者单位：
GeneDx, Gaithersburg, MD 20877, USA; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA. Electronic address: smullegama@genedx.com.
[1]
Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA.
[2]
GeneDx, Gaithersburg, MD 20877, USA.
[3]
Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA.
[4]
Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
[5]
Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.
[6]
Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA.
[7]
Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA.
[8]
Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
[9]
Center for Inherited Cardiovascular Disease, Cardiovascular Genetics Program, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[10]
Northeastern Ontario Medical Genetics Program, Health Sciences, North Sudbury, ON, Canada.
[11]
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
[12]
Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA.
[13]
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[14]
Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.
[15]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
[16]
Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
[17]
Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA.
[18]
Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA.
[19]
Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA. Electronic address: junyang@utmb.edu.
[20]
DOI
10.1016/j.ajhg.2024.02.016
PMID
38531365
发布时间
2025-07-21
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