Richarda M. de Voer

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, C. Marleen Kets et al. · Nature Genetics · 2015 · 372 citations

Genome Instability, Medicine, Genetics +7

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

Judith E. Grolleman, Richarda M. de Voer, Fadwa A. Elsayed et al. · Cancer Cell · 2019 · 166 citations · Full text

Tumor Biology, Multi-tumor Phenotype, Somatic Variant +11

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Shawn Yost, Bas de Wolf, Sandra Hanks et al. · Nature Genetics · 2017 · 152 citations · Full text

Somatic Variant, Cytogenetics, Genetic Disorder +7

Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

Richarda M. de Voer, Ad Geurts van Kessel, Robbert D.A. Weren et al. · Gastroenterology · 2013 · 100 citations · Full text

Medicine, Genetics, Colorectal Cancer +8

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text