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, 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. 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) ↗
7. 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) ↗
8. 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) ↗
9. Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance. Issue 6 (28th March 2013) Authors: Rasmussen, Lene Juel; Heinen, Christopher D.; Royer‐Pokora, Brigitte; Drost, Mark; Tavtigian, Sean; Hofstra, Robert M.W.; de, Niels Journal: Human mutation Issue: Volume 34:Issue 6(2013:Jun.) Page Start: 923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗