Sukanya Horpaopan

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

R. Adam, Isabel Spier, Bixiao Zhao et al. · The American Journal of Human Genetics · 2016 · 242 citations · Full text

Somatic Variant, Recessive Subtype, Medicine +10

Frequency and phenotypic spectrum of germline mutations in <scp><i>POLE</i></scp> and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Isabel Spier, Stefanie Holzapfel, Janine Altmüller et al. · International Journal of Cancer · 2014 · 137 citations · Full text

Deep intronic<i>APC</i>mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

Isabel Spier, Sukanya Horpaopan, Stefanie Vogt et al. · Human Mutation · 2012 · 71 citations

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

Sukanya Horpaopan, Isabel Spier, Alexander M. Zink et al. · International Journal of Cancer · 2014 · 64 citations · Full text

Unrelated Patients, Engineering, Genome‐wide Cnv Analysis +19

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

Stefan Aretz, Rossella Tricarico, Laura Papi et al. · European Journal of Human Genetics · 2013 · 63 citations · Full text

Founder Events, Medicine, Genetics +11