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Thompson, Bryony A., Spurdle, Amanda B., du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P., Farrington, Susan M., Frayling, Ian M., Frebourg, Thierry, Goldgar, David E., Heinen, Christopher D., Holinski-Feder, Elke, Kohonen-Corish, Maija, Plazzer, John-Paul, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pat, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Greenblatt, Marc S., Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J., Sijmons, Rolf, Tavtigian, Sean V., Tops, Carli M., Weber, Thomas, Wijnen, Juul, Woods, Michael O., Macrae, Finlay, Akagi, Kiwamu, Genuardi, Maurizio, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, John T.. Nature Publishing Group; 2014. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Wiik, Mariann Unhjem, Evans, Tiffany-Jane, Belhadj, Sami, Bolton, Katherine A., Dymerska, Dagmara, Jagmohan-Changur, Shantie, Capellá, Gabriel, Kurzawski, Grzegorz, Wijnen, Juul T., Valle, Laura, Vasen, Hans F. A., Lubinski, Jan, Scott, Rodney J., Talseth-Palmer, Bente A.. Nature Publishing Group; 2021. A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.