Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Marco FerilliAndrea CiolfiLucia PedaceMarcello NicetaFrancesca Clementina RadioSimone PizziEvelina MieleCamilla CappellettiCecilia ManciniTiziana GalluccioMarco AndreaniMaria IasconeLuigi ChiriattiAntonio NovelliAlessia MicalizziMarta MatraxiaLucia MenaleFlavio FaletraPaolo PronteraAlba PilottaMaria Francesca BedeschiRossella CapolinoAnwar BabanMarco SeriCorrado MammìGiuseppe ZampinoMaria Cristina DigilioBruno DallapiccolaManuela PrioloTartaglia MarcoPublished in: Genes (2022)
VoUS, further demonstrating the clinical utility of DNAm profiling.