Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- Creator: 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.
- Resource Type: journal article
- Date: 2014
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
- Creator: Cotton, Richard G. H. , Al Aqeel , Aida I. , Patrinos, George P. , Qi, Ming , Ramesar, Rajkumar S. , Scott, Rodney J. , Sijmons, Rolf H. , Sobrido, Maria-Jesus , Vihinen, Mauno , Al-Mulla, Fahd , Carrera, Paola , Claustres, Mireille , Ekong, Rosemary , Hyland, Valentine J. , Macrae, Finlay A. , Marafie, Makia J. , Paalman, Mark H.
- Resource Type: journal article
- Date: 2009