第一单位：
Department of Translational Medicine, Federico II University of Naples, Naples, Italy.
作者：
Camilla,Sarli [1]
;
Liselot,van der Laan [2]
;
Jack,Reilly [3]
;
Slavica,Trajkova [4]
;
Diana,Carli [5]
;
Alfredo,Brusco [6]
;
Michael A,Levy [7]
;
Raissa,Relator [7]
;
Jennifer,Kerkhof [7]
;
Haley,McConkey [8]
;
Matthew L,Tedder [9]
;
Cindy,Skinner [9]
;
Mariëlle,Alders [2]
;
Peter,Henneman [2]
;
Raoul C M,Hennekam [2]
;
Claudia,Ciaccio [10]
;
Stefano,D'Arrigo [10]
;
Antonio,Vitobello [11]
;
Laurence,Faivre [12]
;
Sacha,Weber [13]
;
Aline,Vincent-Devulder [11]
;
Laurence,Perrin [11]
;
Alexia,Bourgois [11]
;
Toshiyuki,Yamamoto [14]
;
Kay,Metcalfe [15]
;
Marcella,Zollino [16]
;
Usha,Kini [17]
;
Daniela,Oliveira [18]
;
Sergio B,Sousa [18]
;
Denise,Williams [19]
;
Gerarda,Cappuccio [1]
;
Bekim,Sadikovic [20]
;
Nicola,Brunetti-Pierri [21]
作者单位：
Department of Translational Medicine, Federico II University of Naples, Naples, Italy.
[1]
Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
[2]
Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.
[3]
Department of Medical Sciences, University of Torino, Turin, Italy.;Molecular Biotechnology Center "Guido Tarone", University of Turin, Turin, Italy.
[4]
Department of Medical Sciences, University of Torino, Turin, Italy.
[5]
Department of Medical Sciences, University of Torino, Turin, Italy.;Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.;Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.
[6]
Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.
[7]
Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.;Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.
[8]
Greenwood Genetic Center, Greenwood, South Carolina, USA.
[9]
Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
[10]
Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.
[11]
Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.;CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs", FHU-TRANSLDAD, Dijon, France.
[12]
Service de Génétique, CHU de Caen-Normandie, Caen, France.;Service de Neurologie, CHU de Caen-Normandie, Caen, France.
[13]
Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.
[14]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.;Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
[15]
Institute of Genomic Medicine, Department of Life Sciences and Public Health, 'Sacro Cuore' Catholic University of Rome, Rome, Italy.;Medical Genetics Unit, Foundation IRCCS AOU Policlinico 'A. Gemelli', Rome, Italy.
[16]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
[17]
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
[18]
Department of Clinical Genetics, Birmingham Women's & Children's NHS Foundation Trust, Birmingham, UK.
[19]
Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.;Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.;Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.
[20]
Department of Translational Medicine, Federico II University of Naples, Naples, Italy.;Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
[21]
DOI
10.1002/ajmg.c.32089
PMID
38884529
发布时间
2026-05-21
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