第一单位：
Dept. of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA, USA.;Scripps Research Translational Institute, La Jolla, CA, USA.
作者：
Kaushik Ram,Ganapathy [1]
;
Martin,Broly [2]
;
Sarah,Silverstein [3]
;
Marcela,Mendoza [1]
;
Eric,Song [4]
;
Bence,Kotis [1]
;
Paul,Hoffman [5]
;
PCGC Consortium [1]
;
Ali,Torkamani [6]
;
David R,Adams [7]
;
Carsten,Bonnemann [8]
;
Tuuli,Lappalainen [9]
;
Pejman,Mohammadi
作者单位：
Dept. of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA, USA.;Scripps Research Translational Institute, La Jolla, CA, USA.
[1]
Department of Molecular genetics and Cytogenomics, Autoinflammatory Diseases Unit, Montpellier University Hospital, University of Montpellier, CEREMAIA, IRMB, INSERM U1183, Montpellier, France, EU.;New York Genome Center, New York City, NY, USA.
[2]
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.;Rutgers New Jersey School of Medicine, 185 S Orange Ave, Newark, NJ, USA.;Undiagnosed Diseases Program, Intramural Research Program, National Institute of Health, Bethesda, MD, USA.
[3]
Dept. of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA, USA.;University of California San Diego, La Jolla, CA, USA.
[4]
New York Genome Center, New York City, NY, USA.
[5]
Undiagnosed Diseases Program, Intramural Research Program, National Institute of Health, Bethesda, MD, USA.
[6]
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
[7]
SciLifeLab, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.
[8]
Dept. of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA, USA.;Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.;Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
[9]
DOI
10.64898/2025.12.16.25341855
PMID
41445643
发布时间
2026-01-03
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