V. McConnell

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005

M. Gill, S. Ennis, N. Miller, 2006, Ulster medical journal.

Cerebral Cavernous Malformations : four families illustrating phenotypic diversity with implications for counselling and management

R. Sciot, T. Dabir, D. Donnelly, 2022 .