K. Davey

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

F. Bernier, J. Parboosingh, P. Bridge, 2005, Journal of Medical Genetics.

Mechanisms contributing to differential genetic risks for TREM2 R47H and R62H variants in Alzheimer's Disease

W. Scotton, J. Hardy, V. Chau, 2022, medRxiv.

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

E. Wirrell, A. Bureau, K. Boycott, 2005, American journal of human genetics.