Publications in collaboration with researchers from Birmingham Women's Hospital (5)

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

2010

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788

2009

  1. Functional and structural characterization of seven novel mutations in the CYP11B1 gene - four mutations associated with non-classic and three mutations causing classic 11 beta-hydroxylase deficiency

    HORMONE RESEARCH

2008

  1. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

    Human Molecular Genetics, Vol. 17, Núm. 23, pp. 3720-3727