第一单位：
Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
作者：
Samuel M,Bradbrook [1]
;
Gail,Graham [2]
;
Melissa T,Carter [2]
;
Maria,Kibaek [3]
;
Christina,Fagerberg [4]
;
Martin J,Larsen [4]
;
Katherine,Dawson [5]
;
Cheryl,Meuter [5]
;
Alexander,Pepler [6]
;
Thomas,Besnard [7]
;
Marie,Vincent [7]
;
Bertrand,Isidor [7]
;
Stephane,Bezieau [7]
;
Benjamin,Cogne [7]
;
Kathrine,Bjørgo [8]
;
Silja Svanstrøm,Amundsen [8]
;
Thomas,Courtin [9]
;
Lisa,Emrick [10]
;
Jill A,Rosenfeld [10]
;
Monika,Weisz-Hubshman [11]
;
Undiagnosed Diseases Network [12]
;
Bryan C,Mak [12]
;
Julian,Martinez-Agosto [13]
;
Mathilde,Heulin [14]
;
Gilles,Morin [15]
;
Boris,Keren [16]
;
Sacha,Schutz [17]
;
Pauline,Monin [18]
;
Mathilde,Pujalte [18]
;
Louis,Januel [19]
;
Gaetan,Lesca [20]
;
Marie-Noëlle Bonnet-Dupeyron,Valence [21]
;
Henri,Margot [22]
;
Jonathan,Levy [23]
;
Emmanuela,Iovino [23]
;
Federica,Isidori [23]
;
Tommaso,Pippucci [23]
;
Francesca,Montanari [24]
;
Lauren,Bell [24]
;
Jennifer,Burton [25]
;
Erin,Torti [25]
;
Ingrid M,Wentzensen [1]
;
Julien,Marcadier
作者单位：
Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
[1]
Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
[2]
HC Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.;Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
[3]
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.;Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
[4]
Department of Genetics, Oakland Medical Center, Oakland, California, USA.
[5]
Center for Genomics and Transcriptomics, Praxis für Humangenetik Tübingen, Tübingen, Germany.
[6]
Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.;Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.
[7]
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
[8]
Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
[9]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
[10]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA.
[11]
Department of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
[12]
Service de Pédiatrie, Assistance Publique - Hôpitaux de Paris, Hôpital Jean-Verdier, Paris, France.
[13]
CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, Amiens, France.
[14]
Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France.
[15]
CHU de Brest, Laboratoire de Génétique Moléculaire, Brest, France.;Université de Brest, INSERM, EFS, UMR1078, GGB, Brest, France.
[16]
Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.
[17]
Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.
[18]
Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.;Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France.
[19]
Consultations de Génétique, Centre Hospitalier de Valence, Valence, France.
[20]
Department of Medical Genetics, University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Bordeaux, France.
[21]
Genetics Department, Robert Debré Hospital, APHP, Paris, France.
[22]
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
[23]
University of Illinois College of Medicine Peoria, Peoria, Illinois, USA.
[24]
GeneDx, LLC, Gaithersburg, Maryland, USA.
[25]
DOI
10.1002/ajmg.a.64242
PMID
40936200
发布时间
2026-05-15
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