-
Khurana, E, Fu, Y, Colonna, V, Mu, XJ, Kang, HM, Lappalainen, T, Sboner, A, Lochovsky, L, Chen, J, Harmanci, A, et al.
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics.
Science
342(6154)
:
1235587
2013
view publication
-
Seto, JT, Quinlan, KGR, Lek, M, Zheng, XF, Garton, F, MacArthur, DG, Hogarth, MW, Houweling, PJ, Gregorevic, P, Turner, N, et al.
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
Journal of Clinical Investigation
123(10)
:
4255 -4263
2013
view publication
-
Lek, M, Clarke, NF, Waddell, L, Thomas, B, DePristo, M, Daly, MJ, North, KN, MacArthur, DG.
O.18 Systematic identification of causal mutations in Mendelian disorders using exome sequence data.
Neuromuscular Disorders
23(9-10)
:
850
2013
view publication
-
Oates, EC, Rosser, AM, Hafezparast, M, Lek, M, Scoto, M, Greensmith, L, Auer-Grumbach, M, Schule, R, Herrmann, DN, Clarke, NF, et al.
O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP).
Neuromuscular Disorders
23(9-10)
:
798
2013
view publication
-
Kasippillai, T, MacArthur, DG, Kirby, A, Thomas, B, Lambalk, CB, Daly, MJ, Welt, CK.
Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency.
The Journal of Clinical Endocrinology & Metabolism
98(9)
:
e1534 -e1539
2013
view publication