Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis by Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen

Get full text

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9 by Noah C. Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Ruben H.P. Vorderman, Davy Cats, Marcos Díaz-Gay, Marjolijn C.J. Jongmans, Ashwin Ramdien, Irma van de Beek, Thomas F. Eleveld, Andrew Green, Frederik J. Hes, Marry M. van den Heuvel-Eibrink, Annelore Van Der Kelen, Sabine Kliesch, Roland P. Kuiper, Inge M.M. Lakeman, Lisa E.E.L.O. Lashley, Leendert H.J. Looijenga, Manon S. Oud, Johanna Steingröver, Yardena Tenenbaum-Rakover, Carli M. Tops, Frank Tüttelmann, Richarda M. de Voer, Dineke Westra, Margot J. Wyrwoll, Mariano Golubicki, Marina Antelo, Laia Bonjoch, Mariona Terradas, Laura Valle, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Sergi Castellví-Bel, Yael Goldberg, Maartje Nielsen

Get full text