Bernard D. Keavney

The paper shows that GPC6 shields WNT5A lipid to maintain gradients, and its disruption causes a RASopathy-like developmental state by promoting premature signaling.

This study shows endurance exercise increases proarrhythmic remodeling in pulmonary vein sleeve myocytes and the PV-LA junction, contributing to atrial fibrillation susceptibility in athletes.

The paper identifies 508 CKD-associated genetic loci, prioritizes 651 kidney genes, and highlights novel CKD genes like CA12 with functional consequences.

This study identifies PRPF8 as essential for left-right organiser cilia function and cardiac asymmetry by regulating ARL13B splicing in mice and zebrafish.

The paper develops a machine learning classifier to identify mouse genes involved in cardiac development and prioritizes them for potential human congenital heart disease (CHD) causation.

The paper identifies rare GATA6 variants linked to increased risk of bicuspid aortic valve in a large UK Biobank exome study.

The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.

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

The paper identifies GPC6 as a causative gene for TOF through GWAS and mouse models, showing dose-dependent cardiac malformations.

The paper assesses heritability and identifies genetic variants influencing plasma NAE and CER lipid levels using GWAS in a family cohort.

This study identifies genetic risk loci for congenital heart disease subtypes and shows candidate genes play essential roles in heart development.

The paper identifies STX18-AS1 as a lncRNA that predisposes to ASD by downregulating NKX2-5 in cardiomyocyte differentiation.

The paper re-evaluates the efficiency of a CRISPR-Cas9 method for generating conditional knockout alleles in mice, finding very low success rates and high rates of undesired alleles.

This study examines the association of a 15q11.2 BP1-BP2 deletion with neuropsychiatric, cognitive, and cardiovascular phenotypes in ~500,000 UK Biobank individuals, finding increased prevalence in disease cases and reduced cognitive function in carriers.

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

This paper develops a genomic risk score for coronary artery disease using 1.7 million variants and tests it in UK Biobank, showing it outperforms conventional risk factors in predicting CAD risk.