1. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. Issue 11 (21st August 2016) Authors: van der Klift, Heleen M.; Mensenkamp, Arjen R.; Drost, Mark; Bik, Elsa C.; Vos, Yvonne J.; Gille, Hans J.J.P.; Redeker, Bert E.J.W.; Tiersma, Yvonne; Zonneveld, José B.M.; García, Encarna Gómez; Letteboer, Tom G.W.; Olderode‐Berends, Maran J.W.; van Hest, Liselotte P.; van Os, Theo A.; Verhoef, S... Journal: Human mutation Issue: Volume 37:Issue 11(2016) Page Start: 1162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. Issue 7 (2nd December 2013) Authors: Parsons, Michael T.; Whiley, Phillip J.; Beesley, Jonathan; Drost, Mark; de Wind, Niels; Thompson, Bryony A.; Marquart, Louise; Hopper, John L.; Jenkins, Mark A.; Australasian Colorectal Cancer Family Registry; Brown, Melissa A.; Tucker, Kathy; Warwick, Linda; Buchanan, Daniel D.; Spurdle, Amanda B. Journal: Molecular carcinogenesis Issue: Volume 54:Issue 7(2015:Jul.) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer. Issue 12 (11th August 2020) Authors: Schubert, Stephanie A.; Ruano, Dina; Tiersma, Yvonne; Drost, Mark; de Wind, Niels; Nielsen, Maartje; van Hest, Liselotte P.; Morreau, Hans; de Miranda, Noel F. C. C.; van Wezel, Tom Journal: Genes, chromosomes & cancer Issue: Volume 59:Issue 12(2020) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. Issue 4 (6th May 2014) Authors: Dominguez‐Valentin, Mev; Drost, Mark; Therkildsen, Christina; Rambech, Eva; Ehrencrona, Hans; Angleys, Maria; Lau Hansen, Thomas; de Wind, Niels; Nilbert, Mef; Juel Rasmussen, Lene Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 4(2014:Jul.) Page Start: 352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene. Issue 11 (11th September 2013) Authors: Drost, Mark; Koppejan, Hester; de Wind, Niels Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Induction of mismatch repair deficiency, compromised DNA damage signaling and compound hypermutagenesis by a dietary mutagen in a cell-based model for Lynch syndrome. (17th December 2021) Authors: Ijsselsteijn, Robbert; van Hees, Sandrine; Drost, Mark; Jansen, Jacob G; de Wind, Niels Journal: Carcinogenesis Issue: Volume 43:Number 2(2022) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome. Issue 9 (28th April 2022) Authors: Rayner, Emily; Tiersma, Yvonne; Fortuno, Cristina; van Hees‐Stuivenberg, Sandrine; Drost, Mark; Thompson, Bryony; Spurdle, Amanda B.; de Wind, Niels Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Redundancy of mammalian Y family DNA polymerases in cellular responses to genomic DNA lesions induced by ultraviolet light. Issue 17 (28th August 2014) Authors: Jansen, Jacob G.; Temviriyanukul, Piya; Wit, Niek; Delbos, Frédéric; Reynaud, Claude-Agnès; Jacobs, Heinz; de Wind, Niels Journal: Nucleic acids research Issue: Volume 42:Issue 17(2014) Page Start: 11071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Rev1 is essential in generating G to C transversions downstream of the Ung2 pathway but not the Msh2+Ung2 hybrid pathway. Issue 10 (5th August 2013) Authors: Krijger, Peter HL; Tsaalbi‐Shtylik, Anastasia; Wit, Niek; van den Berk, Paul Cornelius Maria; de Wind, Niels; Jacobs, Heinz Journal: European journal of immunology Issue: Volume 43:Issue 10(2013:Oct.) Page Start: 2765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Issue 7 (July 2021) Authors: Win, Aung Ko; Dowty, James G.; Reece, Jeanette C.; Lee, Grant; Templeton, Allyson S.; Plazzer, John-Paul; Buchanan, Daniel D.; Akagi, Kiwamu; Aksoy, Seçil; Alonso, Angel; Alvarez, Karin; Amor, David J.; Ankathil, Ravindran; Aretz, Stefan; Arnold, Julie L.; Aronson, Melyssa; Austin, Rachel; Backma... Journal: Lancet oncology Issue: Volume 22:Issue 7(2021) Page Start: 1014 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗