Stefanie Holzapfel

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Mev Dominguez–Valentin, Julian R. Sampson, Toni T. Seppälä et al. · Genetics in Medicine · 2019 · 615 citations · Full text

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

No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies

Christoph Engel, Hans F. A. Vasen, Toni T. Seppälä et al. · Gastroenterology · 2018 · 146 citations · Full text

Cancer Screening, Medicine, Colorectal Cancer Incidence +7

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

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

Christoph Engel, Aysel Ahadova, Toni T. Seppälä et al. · Gastroenterology · 2020 · 101 citations · Full text

Lynch Syndrome, Somatic Variant, Somatic Mutations +11