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 · 379 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 175 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +12

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Shawn Yost, Bas de Wolf, Sandra Hanks et al. · Nature Genetics · 2017 · 161 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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 · 103 citations · Full text

Medicine, Genetics, Oncology +17

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 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15