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MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer research. 2010;70(19):7379-91.
Allele-specific expression of APC in adenomatous polyposis families. Gastroenterology. 2010;139(2):439-7, 447.e1.
Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments. Clinical chemistry. 2008;54(7):1132-40.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. European journal of human genetics : EJHG. 2012.
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. Gastroenterology. 2008;134(1):56-64.