The impact of paternal age on new mutations and disease in the next generation di Wood, KA, Goriely, A

The impact of paternal age on new mutations and disease in the next generation di Wood, KA, Goriely, A

The role of the U5 snRNP in genetic disorders and cancer  di Wood, KA, Eadsforth, MA, Newman, WG, O’Keefe, RT

Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy di Wood, KA, Ellingford, JM, Eden, J, Thomas, HB, O'Keefe, RT, Hopton, C, Newman, WG

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation di Bernkopf, M, Abdullah, UB, Bush, SJ, Wood, KA, Ghaffari, S, Koelling, N, Maher, GJ, Williams, J, Blair, EM, Kelly, FB, Bloss, A, Kini, U, Németh, AH, Saunders, K, Shears, DJ, Stewart, H, Clouston, P, Davies, RW, Wilkie, AOM, Goriely, A

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline di Wood, KA, Tong, RS, Motta, M, Cordeddu, V, Scimone, ER, Bush, SJ, Maxwell, D, Gianoulatou, E, Caputo, V, Traversa, A, Mancini, C, Ferrero, GB, Benedicenti, F, Grammatico, P, Melis, D, Steindl, K, Brunetti-Pierri, N, Trevisson, E, Wilkie, AOM, Lin, AE, Cormier-Daire, V, Twigg, SRF, Tartaglia, M, Goriely, A