Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
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| Title: | Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. |
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| Authors: | Coursimault J; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Cassinari K; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Quenez O; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Coutant S; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Derambure C; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Vezain M; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Drouot N; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Philippe A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Doray B; Service de Génétique Médicale, Centre Hospitalier Universitaire Félix Guyon, Bellepierre Saint Denis, France., Lambert L; Service de Génétique Clinique, CHRU NANCY, F-54000 France, UMR INSERM U 1256 N-GERE, F-54000, Nancy, France., Ghoumid J; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique « Guy Fontaine », and FHU-G4 Génomique, F-59000, Lille, France., Smol T; Université de Lille, ULR7364 RADEME, CHU Lille, Institut de Génétique Médicale, and FHU-G4 Génomique, F-59000, Lille, France., Rama M; Institut de Génétique Médicale, CHU de Lille, France., Legendre M; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France., Lacombe D; INSERM U1211, Université de Bordeaux; Génétique Médicale, CHU de Bordeaux, Bordeaux, France., Fergelot P; INSERM U1211, Université de Bordeaux; Génétique Médicale, CHU de Bordeaux, Bordeaux, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Boland A; 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., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Saugier-Veber P; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France., Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France. |
| Source: | Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 1882-1897. Date of Electronic Publication: 2022 Jul 23. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24438 |
