Kathryn E. Hentges

Prpf8N1531S homozygous mutant mouse embryos have multiple defects in cardiac development and show aberrant splicing of the cardiac transcription factor Tead1

This study identifies a critical role for Prpf8 in cardiac development through aberrant splicing of Tead1 and disrupted Notch signaling in Prpf8N1531S homozygous mutant mice.

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation of Arl13b splicing

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

A Machine Learning Classifier to Identify and Prioritise Genes Associated with Cardiac Development

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.

Glypican-6 deficiency causes dose-dependent conotruncal congenital heart malformations through abnormal remodelling of the endocardial cushions

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

Re-Evaluating One-step Generation of Mice Carrying Conditional Alleles by CRISPR-Cas9-Mediated Genome Editing Technology

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.

Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ~500,000 UK Biobank individuals

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.

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.