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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.
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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Items – Name: Title
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Cassinari+K%22">Cassinari K</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Quenez+O%22">Quenez O</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Coutant+S%22">Coutant S</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Derambure+C%22">Derambure C</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Vezain+M%22">Vezain M</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Drouot+N%22">Drouot N</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Vera+G%22">Vera G</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Schaefer+E%22">Schaefer E</searchLink>; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Philippe+A%22">Philippe A</searchLink>; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Doray+B%22">Doray B</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire Félix Guyon, Bellepierre Saint Denis, France.<br /><searchLink fieldCode="AU" term="%22Lambert+L%22">Lambert L</searchLink>; Service de Génétique Clinique, CHRU NANCY, F-54000 France, UMR INSERM U 1256 N-GERE, F-54000, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Ghoumid+J%22">Ghoumid J</searchLink>; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique « Guy Fontaine », and FHU-G4 Génomique, F-59000, Lille, France.<br /><searchLink fieldCode="AU" term="%22Smol+T%22">Smol T</searchLink>; Université de Lille, ULR7364 RADEME, CHU Lille, Institut de Génétique Médicale, and FHU-G4 Génomique, F-59000, Lille, France.<br /><searchLink fieldCode="AU" term="%22Rama+M%22">Rama M</searchLink>; Institut de Génétique Médicale, CHU de Lille, France.<br /><searchLink fieldCode="AU" term="%22Legendre+M%22">Legendre M</searchLink>; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lacombe+D%22">Lacombe D</searchLink>; INSERM U1211, Université de Bordeaux; Génétique Médicale, CHU de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Fergelot+P%22">Fergelot P</searchLink>; INSERM U1211, Université de Bordeaux; Génétique Médicale, CHU de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Olaso+R%22">Olaso R</searchLink>; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.<br /><searchLink fieldCode="AU" term="%22Boland+A%22">Boland A</searchLink>; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.<br /><searchLink fieldCode="AU" term="%22Deleuze+JF%22">Deleuze JF</searchLink>; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU-G4 Génomique, F-76000, Rouen, France.
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