Article
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2023
Rooney Kathleen, van der Laan Liselot, Trajkova Slavica, Haghshenas Sadegheh, Relator Raissa, Lauffer Peter, Vos Niels, Levy Michael A, Brunetti-Pierri Nicola, Terrone Gaetano, Mignot Cyril, Keren Boris, de Villemeur Thierry B, Volker-Touw Catharina M L, Verbeek Nienke, van der Smagt Jasper J, Oegema Renske, Brusco Alfredo, Ferrero Giovanni B, Misra-Isrie Mala, Hochstenbach Ron, Alders Mariëlle, Mannens Marcel M A M, Sadikovic Bekim, van Haelst Mieke M, Henneman Peter
Abstract excerpt
PURPOSE: HNRNPU haploinsufficiency is associated with developmental and epileptic encephalopathy 54. This neurodevelopmental disorder is characterized by developmental delay, intellectual disability, speech impairment, and early-onset epilepsy. We performed genome-wide DNA methylation (DNAm) analysis in a cohort of individuals to develop a diagnostic biomarker and gain functional insights into the molecular...
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