Hypoplastic left heart syndrome (HLHS) is a lethal congenital heart disease (CHD) affecting
8–25 per 100,000 neonates globally. Clinical interventions, primarily surgical, have …

RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional
support for the interpretation of variants of uncertain significance. However, the use of …

High-throughput DNA sequencing studies increasingly associate DNA variants with
congenital heart disease (CHD). However, functional modeling is a crucial prerequisite for …

Abstract The Myelin Regulator Factor (MYRF) is a master regulator governing myelin
formation and maintenance in the central nervous system. The conservation of MYRF across …

Turner Syndrome (TS) is a rare cytogenetic disorder caused by the complete loss or
structural variation of the second sex chromosome. The most common cause of early …

Myrf is a pleiotropic membrane-bound transcription factor that plays critical roles in diverse
organisms, including in oligodendrocyte differentiation, embryonic development, molting …

Background Cardiac‐urogenital syndrome [MIM# 618280] is a newly described very rare
syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene …

Background Multi‐phenotype analysis of genetically correlated phenotypes can increase the
statistical power to detect loci associated with multiple traits, leading to the discovery of …

De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the
differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital …

Myelin gene regulatory factor (MyRF), a novel membrane transcription factor expressed on
the endoplasmic reticulum membrane, functions as a trimer. The trimerization of MyRF is …