换一批
换一批
第一作者：
Smitha,Kumble
第一单位：
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
作者：
Smitha,Kumble [1]
;
Amanda M,Levy [2]
;
Jaya,Punetha [3]
;
Hua,Gao [4]
;
Nicholas,Ah Mew [5]
;
Kwame,Anyane-Yeboa [6]
;
Paul J,Benke [7]
;
Sara M,Berger [6]
;
Lise,Bjerglund [8]
;
Belinda,Campos-Xavier [9]
;
Michael,Ciliberto [10]
;
Julie S,Cohen [11]
;
Anne M,Comi [12]
;
Cynthia,Curry [13]
;
Lena,Damaj [14]
;
Anne-Sophie,Denommé-Pichon [15]
;
Lisa,Emrick [16]
;
Laurence,Faivre [17]
;
Mary Beth,Fasano [18]
;
Alice,Fiévet [19]
;
Richard S,Finkel [20]
;
Sixto,García-Miñaúr [21]
;
Amanda,Gerard [22]
;
Paulino,Gomez-Puertas [23]
;
Maria J,Guillen Sacoto [24]
;
Trevor L,Hoffman [25]
;
Lillian,Howard [10]
;
Alejandro D,Iglesias [26]
;
Kosuke,Izumi [27]
;
Austin,Larson [28]
;
Anja,Leiber [29]
;
Reymundo,Lozano [30]
;
Iñigo,Marcos-Alcalde [31]
;
Cassie S,Mintz [30]
;
Sureni V,Mullegama [24]
;
Rikke S,Møller [32]
;
Sylvie,Odent [33]
;
Henry,Oppermann [34]
;
Elsebet,Ostergaard [35]
;
Marta,Pacio-Míguez [36]
;
Maria,Palomares-Bralo [21]
;
Sumit,Parikh [37]
;
Anna M,Paulson [10]
;
Konrad,Platzer [34]
;
Jennifer E,Posey [38]
;
Lorraine,Potocki [22]
;
Anya,Revah-Politi [39]
;
Marlene,Rio [40]
;
Alyssa L,Ritter [27]
;
Scott,Robinson [6]
;
Jill A,Rosenfeld [41]
;
Fernando,Santos-Simarro [21]
;
Sérgio B,Sousa [42]
;
Undiagnosed Diseases Network [43]
;
Mathys,Wéber [24]
;
Yili,Xie [6]
;
Wendy K,Chung [44]
;
Natasha J,Brown [45]
;
Zeynep,Tümer
作者单位：
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
[1]
Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
[2]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
[3]
Department of Review Analysis, GeneDx LLC, Maryland, USA.
[4]
Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.
[5]
Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA.
[6]
Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
[7]
Department of Pediatrics, University Hospital Hvidovre, Hvidovre, Denmark.
[8]
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.;Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne (CHUV), Lausanne, Switzerland.
[9]
Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
[10]
Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.;Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
[11]
Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.;Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
[12]
Deptartment of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA.
[13]
Service de pédiatrie et de génétique clinique, CHU Rennes, Rennes, France.
[14]
INSERM UMR1231 Equipe GAD, Université de Bourgogne, Dijon, France.;Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
[15]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
[16]
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.;Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
[17]
Internal Medicine & Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
[18]
Laboratoire de biologie médicale multisites Seqoia-FMG2025, Paris, France.;Service Génétique des Tumeurs, Gustave Roussy, Villejuif, France.
[19]
Nemours Children's Hospital, Orlando, Florida, USA.;Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
[20]
Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain.
[21]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Texas Children's Hospital, Houston, Texas, USA.
[22]
Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain.
[23]
Clinical Genomics Program, GeneDx, Maryland, USA.
[24]
Regional Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, California, USA.
[25]
Division of Clinical Genetics, Columbia University Irving Medical Center, New York City, New York, USA.
[26]
Divison of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
[27]
Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
[28]
Department of Neuropediatrics, Childrens Hospital of Eastern Switzerland St. Gallen, St. Gallen, Switzerland.
[29]
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
[30]
Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain.;Biosciences Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, Madrid, Spain.
[31]
Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.;Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
[32]
CHU Rennes, Hôpital Sud, Service de Génétique Clinique, Univ Rennes, CNRS IGDR UMR 6290, Centre de référence Anomalies du développement CLAD-Ouest, ERN ITHACA, Rennes, France.
[33]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[34]
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.;Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
[35]
Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain.
[36]
Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, Ohio, USA.
[37]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[38]
Institute for Genomic Medicine, Columbia University Medical Center, New York City, New York, USA.;Precision Genomics Laboratory, Columbia University Irving Medical Center, New York City, New York, USA.
[39]
Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
[40]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Baylor Genetics Laboratories, Houston, Texas, USA.
[41]
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.;University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
[42]
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
[43]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.;Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.
[44]
Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.;Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
[45]
DOI
10.1002/humu.24308
PMID
34859529
发布时间
2023-11-29
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Human mutation
Human mutation
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