GenomicsScience AdvancesPeer-reviewed
SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2
Eden Engal, Aveksha Sharma, Uria Aviel…·Yotam Drier
This study shows SMCHD1 loss causes DUX4 expression in FSHD2 by disrupting splicing of DNMT3B, leading to hypomethylation and muscle abnormalities.
9 citations