The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme by Monahan, KJ, Ryan, N, Monje-Garcia, L, Armstrong, R, Church, DN, Cook, J, Elghobashy, A, Lalloo, F, Lane, S, McDermott, FD, Miles, T, Hardy, SA, Tyson, A, Wang, VYW, Kim, A, Gelinas, S, Faravelli, F, Elmslie, F, Shaw, AC

Loss-of-function mutations in TBC1d20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans by Liegel, R, Handley, M, Ronchetti, A, Brown, S, Langemeyer, L, Linford, A, Chang, B, Morris-Rosendahl, D, Carpanini, S, Posmyk, R, Harthill, V, Sheridan, E, Abdel-Salam, G, Terhal, P, Faravelli, F, Accorsi, P, Giordano, L, Pinelli, L, Hartmann, B, Ebert, A, Barr, F, Aligianis, I, Sidjanin, D

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. by Stewart, DR, Huang, A, Faravelli, F, Anderlid, B, Medne, L, Ciprero, K, Kaur, M, Rossi, E, Tenconi, R, Nordenskjöld, M, Gripp, K, Nicholson, L, Meschino, W, Capua, E, Quarrell, O, Flint, J, Irons, M, Giampietro, P, Schowalter, D, Zaleski, C, Malacarne, M, Zackai, E, Spinner, N, Krantz, I