DNA methylation analysis in Kabuki syndrome: reclassification of germline KMT2D variants Background Kabuki syndrome (KS) is a rare multiple congenital anomaly/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements in the KMT2D gene. Although KS is recognizable due to its distinctive facial features, di...

DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...

Integrated Analysis of Blood DNA Methylation, Genetic Variation, Circulating Proteins, microRNAs, and Kidney Failure in Type 1 Diabetes Research Background Diabetic Kidney Disease (DKD) is one of the major complications of Type 1 Diabetes (T1D). Approximately 40% of T1D patients develop DKD, and 10% to 15% eventually progress to Kidney Failure (KF)...