1. From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord...