K. Oakhill

A germline mosaic BRCA1 exon deletion in a woman with bilateral basal‐like breast cancer

M. Tischkowitz, A. Girling, A. Taylor, 2013, Clinical genetics.

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

J. Whittaker, B. Treacy, K. Oakhill, 2011, European Journal of Human Genetics.

Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer.

L. Happerfield, M. Arends, C. Mattocks, 2006 .

RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

Susan S. Taylor, A. McCallion, B. Ponder, 2006, Cancer research.

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Howard Martin, J. Whittaker, B. Treacy, 2010, Human mutation.