Stuart A. Cook

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

M. Hurles, K. Karczewski, P. Danecek, 2021, American journal of human genetics.

Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy

D. O’Regan, D. Pennell, A. de Marvao, 2023, Circulation. Genomic and precision medicine.

Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

Kevin Knight, D. O’Regan, Y. Pinto, 2023, medRxiv.