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

R. Adam, Isabel Spier, Bixiao Zhao, +25

The American Journal of Human Genetics

Somatic VariantRecessive SubtypeMedicineGeneticsPathology +8

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, +17

International Journal of Cancer

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, +9

Human Mutation

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, +25

International Journal of Cancer

Unrelated PatientsEngineeringGenome‐wide Cnv AnalysisGeneticsPathology +17

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, +13

European Journal of Human Genetics

Founder EventsMedicineGeneticsGenetic DisorderHuman Polymorphism +9

Low-level <i>APC</i> mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

Isabel Spier, Dmitriy Drichel, Martin Kerick, +17

Journal of Medical Genetics

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

Isabel Spier, Martin Kerick, Dmitriy Drichel, +17

Familial Cancer

BioinformaticsMedicineGeneticsPathologyColorectal Cancer +6

Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes

Katrin Kayser, Franziska Degenhardt, Stefanie Holzapfel, +19

International Journal of Cancer

Targeted NgsRecurrent CnvMedicineGeneticsGenetic Disorder +13