Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
Neurogenetics Neurogenetics, 18(4), 185-194. SPRINGER Miyake, N, Wolf, N I, Cayami, F K, Crawford, J, Bley, A, Bulas, D, Conant, A, Bent, S J, Gripp, K W, Hahn, A, Humphray, S, Kimura-Ohba, S, Kingsbury, Z, Lajoie, B R, Lal, D, Micha, D, Pizzino, A, Sinke, R J, Sival, D, Stolte-Dijkstra, I, Superti-Furga, A, Ulrick, N, Taft, R J, Ogata, T, Ozono, K, Matsumoto, N, Neubauer, B A, Simons, C & Vanderver, A 2017, ' X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 ', Neurogenetics, vol. 18, no. 4, pp. 185-194 . https://doi.org/10.1007/s10048-017-0520-x Neurogenetics, 18(4), 185-194. Springer Verlag Neurogenetics, vol. 18, no. 4, pp. 185-194