Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Colorectal Neoplasms  [Clear All Filters]
2020
Fahed, A. C. et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
2016
Adam, R. et al. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet 99, 337-51 (2016).
Spier, I. et al. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J Med Genet 53, 172-9 (2016).
2015
Spier, I. et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).
2012
Liu, D. J. & Leal, S. M. SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations. Bioinformatics 28, 1745-51 (2012).