第一单位：
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
作者：
F Graeme,Frost [1]
;
Marie,Morimoto [1]
;
Prashant,Sharma [1]
;
Lyse,Ruaud [2]
;
Newell,Belnap [3]
;
Daniel G,Calame [4]
;
Yuri,Uchiyama [5]
;
Naomichi,Matsumoto [6]
;
Machteld M,Oud [7]
;
Elise A,Ferreira [8]
;
Vinodh,Narayanan [3]
;
Sampath,Rangasamy [3]
;
Matt,Huentelman [3]
;
Lisa T,Emrick [4]
;
Ikuko,Sato-Shirai [9]
;
Satoko,Kumada [10]
;
Nicole I,Wolf [11]
;
Peter J,Steinbach [12]
;
Yan,Huang [1]
;
Undiagnosed Diseases Network [1]
;
Barbara N,Pusey [13]
;
Sandrine,Passemard [14]
;
Jonathan,Levy [15]
;
Séverine,Drunat [16]
;
Marie,Vincent [17]
;
Agnès,Guet [18]
;
Emanuele,Agolini [18]
;
Antonio,Novelli [19]
;
Maria Cristina,Digilio [20]
;
Jill A,Rosenfeld [1]
;
Jennifer L,Murphy [21]
;
James R,Lupski [22]
;
Gilbert,Vezina [1]
;
Ellen F,Macnamara [23]
;
David R,Adams [1]
;
Maria T,Acosta [23]
;
Cynthia J,Tifft [24]
;
William A,Gahl [25]
;
May Christine V,Malicdan
作者单位：
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
[1]
APHP.Nord, Robert Debré University Hospital, Department of Genetics, Paris, France; Université Paris Cité, Inserm UMR 1141, NeuroDiderot, 75019 Paris, France.
[2]
Center for Rare Childhood Disorders, The Translational Genomics Research Institute, Phoenix, AZ, USA.
[3]
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
[4]
Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[5]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[6]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
[7]
Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, the Netherlands; United for Metabolic Diseases, Amsterdam, the Netherlands.
[8]
Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan; Department of Pediatrics, Shimada Ryoiku Medical Center Hachioji for Challenged Children, Tokyo, Japan.
[9]
Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
[10]
Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.
[11]
Bioinformatics and Computational Biosciences Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
[12]
Université Paris Cité, Inserm UMR 1141, NeuroDiderot, 75019 Paris, France; Service de Neurologie Pédiatrique, DMU INOV-RDB, APHP, Hôpital Robert Debré, Paris, France.
[13]
Department of Genetics, APHP-Robert Debré University Hospital, Paris, France; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.
[14]
Department of Genetics, APHP-Robert Debré University Hospital, Paris, France; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France; INSERM UMR1141, Neurodiderot, University of Paris, Paris, France.
[15]
Service de Génétique Médicale, CHU Nantes, Nantes, France; Inserm, CNRS, University Nantes, l'institut du thorax, Nantes, France.
[16]
APHP.Nord, Louis Mourier Hospital, Pediatrics Department, Paris, France.
[17]
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[18]
Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
[19]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[20]
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
[21]
Department of Diagnostic Radiology and Imaging, Children's National Hospital, Washington, DC, USA.
[22]
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[23]
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[24]
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.
[25]
DOI
10.1016/j.ajhg.2023.03.001
PMID
36965478
发布时间
2025-08-01
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