Highlights

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Published in BRAIN

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunitsand Cause Cornelia de Lange Syndrom

ScienceDirect - Cell reports

A therapeutic target to prevent or cure dilated cardiomyopathy associated with laminopathy.

Targeting histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy.