Wiessner, M; Roos, A; Munn, CJ; Viswanathan, R; Whyte, T; Cox, D; Schoser, B; ... Senderek, J; + view all (2017) Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. The American Journal of Human Genetics , 100 (3) pp. 523-536. 10.1016/j.ajhg.2017.01.024. Green open access