Catherine E. Keegan

Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia

This paper uses long-read sequencing to comprehensively identify pathogenic variants in the CYP21A2 locus for Congenital Adrenal Hyperplasia, including phasing and module counts, improving diagnostic accuracy.

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

This study shows that KMT2A and KDM5C, which have opposing enzymatic activities, work together to regulate neuronal structure, behavior, and H3K4 methylation, with their combined loss reversing some phenotypes.

Not by systems alone: replicability assessment of disease expression signals

The paper assesses the replicability of disease expression signals across pedigrees and identifies genes missed by systems methods.

DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

This study identifies DHX37 variants as a novel molecular cause of 46,XY gonadal dysgenesis, particularly in embryonic testicular regression syndrome.

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth’s short tail mice

The paper investigates epigenomic and transcriptomic changes in Danforth’s short tail mice, finding minimal chromatin changes but coordinated dysregulation of hedgehog signaling.