Cooper DN

ORCID: 0000-0002-8943-8484 · 2 papers in corpus

2011

Assessing the pathological relevance of SPINK1 promoter variants.

European journal of human genetics : EJHG ·doi:10.1038/ejhg.2011.79

The SPINK1 gene, encoding the human pancreatic secretory trypsin inhibitor, is one of the major genes involved in predisposition to chronic pancreatitis (CP). In this study we have assessed the potential functional impact of 11 SPINK1 promo…

2011

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

Human genomics ·doi:10.1186/1479-7364-5-5-453

The recent publication of the draft genome sequences of the Neanderthal and a ∼50,000-year-old archaic hominin from Denisova Cave in southern Siberia has ushered in a new age in molecular archaeology. We previously cross-compared the human,…