第一单位：
Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.
作者：
Hieu D,Hoang [1]
;
Rebecca C,Spillmann [2]
;
Daniel J,Wegner [1]
;
Maria G,Tedesco [3]
;
Malene,Brohus [4]
;
Antonio,Novelli [5]
;
Fabrizia,Stregapede [5]
;
Daniela,Rogaia [3]
;
Stefania,Troiani [6]
;
Jacob,Lesinski [1]
;
Weimin,Yuan [1]
;
Sara M,Fielder [1]
;
Bo,Zhang [1]
;
Stephanie,Morrison [1]
;
Suk,Regmi [1]
;
Miryam R S,Foti [7]
;
Dustin,Baldridge [1]
;
Gary A,Silverman [1]
;
Undiagnosed Diseases Network [8]
;
Patrick,Shea [1]
;
Patricia,Dickson [1]
;
Jennifer A,Wambach [4]
;
Michael T,Overgaard [4]
;
Helene H,Jensen [4]
;
Anders,Olsen [3]
;
Paolo,Prontera [2]
;
Vandana,Shashi [1]
;
Stephen C,Pak [9]
;
Tim,Schedl
作者单位：
Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.
[1]
Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States.
[2]
Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy.
[3]
Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.
[4]
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy.
[5]
Neonatal Intensive Care Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 1, 06129 Perugia, Italy.
[6]
Genetics Unit, Medical Science and Maternal-Infantile Department, Hospital Sant'Anna of Ferrara, Via Fossato di Mortara, 74, 44121 Ferrara, Italy.
[7]
Institute for Genome Medicine, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, United States.
[8]
Department of Genetics, Washington University in St. Louis School of Medicine, 4523 Clayton Ave St. Louis, MO 63110, United States.
[9]
DOI
10.1093/hmg/ddaf195
PMID
41467504
发布时间
2025-12-30
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