作者：
Véronique,Pingault [1]
;
Cécilia,Neiva-Vaz [2]
;
Judite,de Oliveira [3]
;
Núria,Martínez-Gil [4]
;
Amaia,Lasa-Aranzasti [4]
;
Berta,Campos [4]
;
Inge M M,Lakeman [5]
;
Esther A R,Nibbeling [5]
;
Radka,Stoeva [6]
;
Parul,Jayakar [7]
;
Tabib,Dabir [8]
;
Houda Zghal,Elloumi [9]
;
Alanna,Strong [10]
;
Sylvain,Hanein [11]
;
Arnaud,Picard [2]
;
Francoise,Ochsenbein [12]
;
Pierre,Blanc [13]
;
Jeanne,Amiel [14]
作者单位：
Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France. veronique.pingault@inserm.fr.;Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France. veronique.pingault@inserm.fr.;Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France. veronique.pingault@inserm.fr.
[1]
Chirurgie Maxillofaciale, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France.
[2]
Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France.
[3]
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.;Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
[4]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
[5]
Department of Medical Genetics, Le Mans Hospital, Le Mans, France.
[6]
Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
[7]
Medical Genetics Dept, Belfast City Hospital, Belfast, BT9 7AB, UK.
[8]
GeneDx, Gaithersburg, MD, USA.
[9]
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
[10]
Bioinformatic Platform, Institute of Genetic Diseases, INSERM UMR1163, Institut Imagine, Université Paris-Cité and Structure Fédérative de Recherche Necker, 75015, Paris, France.
[11]
Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), Institute Joliot, Gif-sur-Yvette, France.
[12]
Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.
[13]
Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France.;Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France.
[14]
DOI
10.1038/s41431-024-01698-5
PMID
39333427
发布时间
2025-01-11
换一批
换一批
