Beatriz Paumard

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

M. Urioste, J. Benítez, A. Osorio, 2017, British Journal of Cancer.

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

A. Afenjar, P. Lapunzina, J. Nevado, 2023, Genes.