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RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

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Title: RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.
Authors: Buisine MP; Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, F-59000, Lille, France., Bellanne-Chantelot C; AP-HP. Sorbonne University, Pitié-Salpêtrière Hospital, Department of Medical Genetics, F-75013, Paris, France.; INSERM, U1287, Gustave Roussy, F-94805, Villejuif, France., Calmels N; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France., Vaché C; Laboratoire de génétique moléculaire, Univ Montpellier, CHU Montpellier, Montpellier, France.; Institut des Neurosciences de Montpellier (INM), Univ Montpellier, Inserm, Montpellier, France., Besnard T; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; L'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France., Cogne B; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; L'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France., Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, service de Génomique Médicale, Centre de recherche Translationnelle en Médecine moléculaire (CTM) - Inserm UMR1231 équipe Génétique des Anomalies du Développement (GAD), 21000, Dijon, France., Piton A; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, France., Martins A; Univ Rouen Normandie, Inserm U1245, Normandie Univ, FHU-G4 génomique, F-76000, Rouen, France., Gaildrat P; Univ Rouen Normandie, Inserm U1245, Normandie Univ, FHU-G4 génomique, F-76000, Rouen, France., Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, F-59000, Lille, France., Gorokhova S; Medical Genetics Department, Timone Children's Hospital, APHM, 13385, Marseille, France.; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, 13385, Marseille, France., Boutry-Kryza N; Department of Genetics, Groupement Hospitalier EST, Hospices Civils de Lyon, 69500, Bron, France., Caputo S; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Leman R; Laboratoire de Biologie et Génétique des Cancers, Centre François Baclesse, FHU-G4 génomique, 14000, Caen, France.; Inserm U1245, Normandie Université, UNICAEN, Rouen, France., Krieger S; Laboratoire de Biologie et Génétique des Cancers, Centre François Baclesse, FHU-G4 génomique, 14000, Caen, France.; Inserm U1245, Normandie Université, UNICAEN, Rouen, France., Le Gac G; Univ Brest, Inserm, EFS, UMR 1078, CHU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, F-29200, Brest, France., Houdayer C; Univ Rouen Normandie, Inserm U1245, Normandie Univ, FHU-G4 génomique, CHU Rouen, Département de Génétique, F-76000, Rouen, France. claude.houdayer@chu-rouen.fr.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Oct; Vol. 33 (10), pp. 1219-1227. Date of Electronic Publication: 2025 Jun 05.
Publication Type: Journal Article; Review
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.
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  Data: <searchLink fieldCode="AU" term="%22Buisine+MP%22">Buisine MP</searchLink>; Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, F-59000, Lille, France.<br /><searchLink fieldCode="AU" term="%22Bellanne-Chantelot+C%22">Bellanne-Chantelot C</searchLink>; AP-HP. Sorbonne University, Pitié-Salpêtrière Hospital, Department of Medical Genetics, F-75013, Paris, France.; INSERM, U1287, Gustave Roussy, F-94805, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Calmels+N%22">Calmels N</searchLink>; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Vaché+C%22">Vaché C</searchLink>; Laboratoire de génétique moléculaire, Univ Montpellier, CHU Montpellier, Montpellier, France.; Institut des Neurosciences de Montpellier (INM), Univ Montpellier, Inserm, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; L'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; L'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, service de Génomique Médicale, Centre de recherche Translationnelle en Médecine moléculaire (CTM) - Inserm UMR1231 équipe Génétique des Anomalies du Développement (GAD), 21000, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Martins+A%22">Martins A</searchLink>; Univ Rouen Normandie, Inserm U1245, Normandie Univ, FHU-G4 génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Gaildrat+P%22">Gaildrat P</searchLink>; Univ Rouen Normandie, Inserm U1245, Normandie Univ, FHU-G4 génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Dhaenens+CM%22">Dhaenens CM</searchLink>; Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, F-59000, Lille, France.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; Medical Genetics Department, Timone Children's Hospital, APHM, 13385, Marseille, France.; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, 13385, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Boutry-Kryza+N%22">Boutry-Kryza N</searchLink>; Department of Genetics, Groupement Hospitalier EST, Hospices Civils de Lyon, 69500, Bron, France.<br /><searchLink fieldCode="AU" term="%22Caputo+S%22">Caputo S</searchLink>; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Leman+R%22">Leman R</searchLink>; Laboratoire de Biologie et Génétique des Cancers, Centre François Baclesse, FHU-G4 génomique, 14000, Caen, France.; Inserm U1245, Normandie Université, UNICAEN, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Krieger+S%22">Krieger S</searchLink>; Laboratoire de Biologie et Génétique des Cancers, Centre François Baclesse, FHU-G4 génomique, 14000, Caen, France.; Inserm U1245, Normandie Université, UNICAEN, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Le+Gac+G%22">Le Gac G</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, CHU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, F-29200, Brest, France.<br /><searchLink fieldCode="AU" term="%22Houdayer+C%22">Houdayer C</searchLink>; Univ Rouen Normandie, Inserm U1245, Normandie Univ, FHU-G4 génomique, CHU Rouen, Département de Génétique, F-76000, Rouen, France. claude.houdayer@chu-rouen.fr.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2025 Oct; Vol. 33 (10), pp. 1219-1227. <i>Date of Electronic Publication: </i>2025 Jun 05.
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