Selected Publications

For a complete list of publications, please click here.

  1. The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer. Journal of Clinical Endocrinology and Metabolism, 2015. Pubmed
  2. The 8q24 rs6983267G variant is associated with increased thyroid cancer risk. Endocrine Related Cancer, 2015, 22(5):841-849. Pubmed
  3. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 2014, 24(5)1478-1492. Pubmed
  4. Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics, 2014, 134(2):231-245. Pubmed
  5. Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. Nature Communications, 2014, 5:5260. Pubmed
  6. Germline Variants and Advanced Colorectal Adenomas: Adenoma Prevention with Celecoxib Trial Genome-wide Association Study. Clinical Cancer Research, 2013, 19(23):6430-7. Pubmed
  7. Much of the population genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas. Gastroenterology, 2013, 144:53-55. Pubmed
  8. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.Nat Genet. 2012 Dec 23;45(2):136-144 Pubmed
  9. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nature Genetics, 2012, 44: 770-776. Pubmed See also
  10. Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24. Journal of Medical Genetics. 2012, 49:158-163. Pubmed PMC Full text
  11. Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11 refines regional association signals and in silico analyses suggests functional variation and identifies unexpected candidate target genes. Human Molecular Genetics, 2011, 20 (14): 2879-2888.Pubmed PMC Full text
  12. The GREM1, BMP4 and BMP2 loci harbor multiple common susceptibility variants for colorectal cancer. PLOS Genetics, 2011, 7: e1002105.Pubmed PMC Full text
  13. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nature Genetics, 2010, 42:973-979.Pubmed
  14. Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles. Current Opinions in Genetics and Development, 2010, 20:308-314.Pubmed
  15. Challenges in the identification and use of rare disease-associated predisposition variants. Current Opinions in Genetics and Development, 2010, 20:227-281.Pubmed
  16. Comprehensive assessment of variation at the Transforming Growth Factor Beta Type I Receptor locus and colorectal cancer predisposition. Proceedings of the National Academy of Science USA, 2010, 107(17): 7858-7862.Pubmed PMC Full text
  17. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nature Genetics, 2009, 41(8):885-890. Pubmed See also
  18. Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Human Molecular Genetics, 2009, 18(10):1889-1892.Pubmed Free Fulltext
  19. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nature Genetics, 2008, 40(5):623-630.Pubmed
  20. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nature Genetics, 2008, 40(5):631-637.Pubmed PMC Full text
  21. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nature Genetics, 2008, 40(1):26-28.Pubmed
  22. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nature Genetics, 2007, 39(11):1315-1317.Pubmed
  23. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nature Genetics, 2007, 39(8):984-988.Pubmed See also
  24. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. American Journal of Human Genetics, 2000, 67(5):1287-1295.Pubmed PMC Full text Research Highlight Editorial (Pubmed) Editorial (PMC Full text)