Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

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Bibliographic Details
Title: Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.
Authors: Coursimault J; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245, 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, 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, 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, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France., Vincent A; Reference Centre for Learning Disorders, Rouen University Hospital, F-76031 Rouen Cedex, France; Department of Neonatology and Paediatric Intensive Care, Rouen University Hospital, F-76031 Cedex, France., Pouliquen D; Service de Neurologie, CHU Rouen, France., Feltin C; Institut de Psychiatrie - Centre Hospitalier du Rouvray, Sotteville-lès-Rouen, France., Aref-Eshghi E; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France. Electronic address: francois.lecoquierre@chu-rouen.fr.
Source: European journal of medical genetics [Eur J Med Genet] 2022 Sep; Vol. 65 (9), pp. 104556. Date of Electronic Publication: 2022 Jul 01.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2022.104556