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High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Lecoquierre, François; Quenez, Olivier; Fourneaux, Steeve; Coutant, Sophie; Vezain, Myriam; Rolain, Marion; Drouot, Nathalie; Boland, Anne; Olaso, Robert; Meyer, Vincent; Deleuze, Jean-François; Dabbagh, Dana; Gilles, Isabelle; Gayet, Claire; Saugier-Veber, Pascale; Goldenberg, Alice; Guerrot, Anne-Marie; Nicolas, Gaël.
Afiliação
  • Lecoquierre F; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France. francois.lecoquierre@chu-rouen.fr.
  • Quenez O; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Fourneaux S; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Coutant S; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Vezain M; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Rolain M; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Drouot N; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.
  • Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.
  • Meyer V; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.
  • Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.
  • Dabbagh D; Department of Pediatrics, Elbeuf Hospital, Elbeuf, France.
  • Gilles I; Department of Pediatrics, Evreux Hospital, Evreux, France.
  • Gayet C; Department of Pediatrics, CHU Rouen, F-76000, Rouen, France.
  • Saugier-Veber P; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Goldenberg A; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Guerrot AM; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France.
  • Nicolas G; Univ Rouen Normandie, Inserm U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, F-76000, Rouen, France. gaelnicolas@hotmail.com.
Hum Genet ; 142(6): 773-783, 2023 Jun.
Article em En | MEDLINE | ID: mdl-37076692
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article