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.. Lippincott Williams & Wilkins; 2009. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

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.

Kaput, Jim, Cotton, Richard G. H., Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Blöcker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calzone, Rita, Scott, Rodney J., Hardman, Lauren, Watson, Michael, Aqeel, Aida I. Al, Al-Aama, Jumana Y., Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D.. John Wiley; 2009. Planning the Human Variome Project: the Spain report.