A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer RDA Weren, MJL Ligtenberg, CM Kets, RM De Voer, ETP Verwiel, ... Nature genetics 47 (6), 668-671, 2015 | 406 | 2015 |
Update on genetic predisposition to colorectal cancer and polyposis L Valle, RM de Voer, Y Goldberg, W Sjursen, A Försti, C Ruiz-Ponte, ... Molecular aspects of medicine 69, 10-26, 2019 | 173 | 2019 |
Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype JE Grolleman, RM De Voer, FA Elsayed, M Nielsen, RDA Weren, C Palles, ... Cancer cell 35 (2), 256-266. e5, 2019 | 172 | 2019 |
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation S Yost, B De Wolf, S Hanks, A Zachariou, C Marcozzi, M Clarke, ... Nature genetics 49 (7), 1148-1151, 2017 | 136 | 2017 |
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer RM de Voer, AG van Kessel, RDA Weren, MJL Ligtenberg, D Smeets, ... Gastroenterology 145 (3), 544-547, 2013 | 130 | 2013 |
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer RM de Voer, MM Hahn, AR Mensenkamp, A Hoischen, C Gilissen, ... Scientific reports 5 (1), 14060, 2015 | 96 | 2015 |
Immunity against Neisseria meningitidis serogroup C in the Dutch population before and after introduction of the meningococcal c conjugate vaccine RM de Voer, L Mollema, RM Schepp, SC de Greeff, PGM van Gageldonk, ... PloS one 5 (8), e12144, 2010 | 94 | 2010 |
Seroprevalence and Placental Transportation of Maternal Antibodies Specific for Neisseria meningitidis Serogroup C, Haemophilus influenzae Type B, Diphtheria … RM de Voer, FRM van der Klis, JE Nooitgedagt, FGA Versteegh, ... Clinical infectious diseases 49 (1), 58-64, 2009 | 85 | 2009 |
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 82 | 2021 |
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin? RDA Weren, MJL Ligtenberg, A Geurts van Kessel, RM De Voer, ... The Journal of Pathology 244 (2), 135-142, 2018 | 81 | 2018 |
Identification of novel candidate genes for early-onset colorectal cancer susceptibility RM de Voer, MM Hahn, RDA Weren, AR Mensenkamp, C Gilissen, ... PLoS genetics 12 (2), e1005880, 2016 | 72 | 2016 |
Development of a Fluorescent-Bead-Based Multiplex Immunoassay To Determine Immunoglobulin G Subclass Responses to Neisseria meningitidis Serogroup A … RM de Voer, FRM van der Klis, CWAM Engels, GT Rijkers, EA Sanders, ... Clinical and Vaccine Immunology 15 (8), 1188-1193, 2008 | 59 | 2008 |
Simultaneous Detection of Haemophilus influenzae Type b Polysaccharide-Specific Antibodies and Neisseria meningitidis Serogroup A, C, Y, and W-135 … RM de Voer, RM Schepp, FGA Versteegh, FRM van der Klis, ... Clinical and Vaccine Immunology 16 (3), 433-436, 2009 | 56 | 2009 |
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1337-1347, 2021 | 55 | 2021 |
The genetic heterogeneity of colorectal cancer predisposition-guidelines for gene discovery MM Hahn, RM De Voer, N Hoogerbrugge, MJL Ligtenberg, RP Kuiper, ... Cellular Oncology 39, 491-510, 2016 | 53 | 2016 |
Evaluation of a hybrid capture–based pan-cancer panel for analysis of treatment stratifying oncogenic aberrations and processes LI Kroeze, RM De Voer, EJ Kamping, D Von Rhein, EAM Jansen, ... The Journal of Molecular Diagnostics 22 (6), 757-769, 2020 | 52 | 2020 |
Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early‐onset colorectal cancer MM Hahn, L Vreede, SASA Bemelmans, E van der Looij, AG van Kessel, ... Genes, Chromosomes and Cancer 55 (11), 855-863, 2016 | 45 | 2016 |
TINF2 is a haploinsufficient tumor suppressor that limits telomere length I Schmutz, AR Mensenkamp, KK Takai, M Haadsma, L Spruijt, ... Elife 9, e61235, 2020 | 40 | 2020 |
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development RDA Weren, R Venkatachalam, JB Cazier, HF Farin, CM Kets, ... The Journal of pathology 236 (2), 155-164, 2015 | 39 | 2015 |
Two types of primary mucinous ovarian tumors can be distinguished based on their origin M Simons, F Simmer, J Bulten, MJ Ligtenberg, H Hollema, S van Vliet, ... Modern Pathology 33 (4), 722-733, 2020 | 35 | 2020 |