第一单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
作者：
Daniel,Brooks [1]
;
Elizabeth,Burke [2]
;
Sukyeong,Lee [3]
;
Tanya N,Eble [1]
;
Melanie,O'Leary [4]
;
Ikeoluwa,Osei-Owusu [4]
;
Heidi L,Rehm [5]
;
Shweta U,Dhar [1]
;
Lisa,Emrick [6]
;
David,Bick [7]
;
Michelle,Nehrebecky [2]
;
Ellen,Macnamara [2]
;
Dídac,Casas-Alba [8]
;
Judith,Armstrong [8]
;
Carolina,Prat [9]
;
Antonio F,Martínez-Monseny [8]
;
Francesc,Palau [10]
;
Pengfei,Liu [11]
;
David,Adams [2]
;
Undiagnosed Diseases Network [12]
;
Seema,Lalani [13]
;
Jill A,Rosenfeld [14]
;
Lindsay C,Burrage
作者单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
[1]
NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
[2]
Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA.;Advanced Technology Core for Macromolecular X-Ray Crystallography, Baylor College of Medicine, Houston, TX, USA.
[3]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[4]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
[5]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.;Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.;Texas Children's Hospital, Houston, TX, USA.
[6]
Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA.
[7]
Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.
[8]
Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain.
[9]
Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.;Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain.
[10]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.;Baylor Genetics, Houston, TX, USA.
[11]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.;Texas Children's Hospital, Houston, TX, USA.
[12]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. mokry@bcm.edu.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. burrage@bcm.edu.;Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.
[14]
DOI
10.1007/s00439-024-02657-2
PMID
38451290
发布时间
2025-03-08
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