J. David Brook

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

Regulation of Toxic RNA Foci and Repeat Expansion DMPK Transcripts: Role of MBNL Proteins and RNA Decay Pathways

This study investigates how MBNL proteins and RNA decay pathways regulate mutant DMPK mRNA in DM1, showing that their absence reduces RNA foci and promotes mRNA degradation.

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.

Global increase in circRNA levels in myotonic dystrophy

This study shows increased global circRNA levels in myotonic dystrophy type 1, identifies circRNAs associated with disease severity, and links circRNA levels to muscle weakness and alternative splicing changes.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.