Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Grégoire Blavier
raw_affiliation_strings: Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France
CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)
Department of genetics and reference center for developmental disorders (France)
raw_author_name: François Lecoquierre
raw_affiliation_strings: Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France
CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)
Department of genetics and reference center for developmental disorders (France)
raw_author_name: Anne-Marie Guerrot
raw_affiliation_strings: Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France
Department of genetics and reference center for developmental disorders (France)
CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)
raw_author_name: Géraldine Joly Hélas
raw_affiliation_strings: Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France
CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)
Department of genetics and reference center for developmental disorders (France)
raw_author_name: Stéphane Rondeau
raw_affiliation_strings: Department of Early Medico-Social Action (CAMSP), CHU de Rouen, Rouen, France
CHU Rouen (1 rue de Germont 76031 Rouen cedex - France)
raw_author_name: Anne Boland
raw_affiliation_strings: Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Évry-Courcouronnes, 91057, France
CNRGH - Centre National de Recherche en Génomique Humaine (Evry - France)
raw_author_name: Jean-François Deleuze
raw_affiliation_strings: Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Évry-Courcouronnes, 91057, France
CNRGH - Centre National de Recherche en Génomique Humaine (Evry - France)
raw_author_name: Gaël Nicolas
raw_affiliation_strings: Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France
Department of genetics and reference center for developmental disorders (France)
CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)
raw_author_name: Pascal Chambon
raw_affiliation_strings: Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France
CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)
Department of genetics and reference center for developmental disorders (France)
raw_author_name: Kévin Cassinari
raw_affiliation_strings: Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France. kevin.cassinari@chu-rouen.fr
Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, 76000, France
CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)
Department of genetics and reference center for developmental disorders (France)