K. Reay

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

D. Evans, W. Newman, F. Lalloo, 2016, European Journal of Human Genetics.

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

D. Steinemann, Alison M. Male, J. Fitzgibbon, 2020, Nature Communications.

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

D. Steinemann, Alison M. Male, J. Fitzgibbon, 2020, Nature Communications.

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

S. Watson, C. Baumann, J. Klumperman, 2012, Human mutation.

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.

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

K. Downes, N. Morgan, K. Freson, 2021, Platelets.