-
Aguet, F, Ardlie, KG, Cummings, BB, Gelfand, ET, Getz, G, Hadley, K, Handsaker, RE, Huang, KH, Kashin, S, Karczewski, KJ, et al.
Dynamic landscape and regulation of RNA editing in mammals.
Nature
550(7675)
:
249 -254
2017
view publication
-
Mulroy, E, Ghaoui, R, Hutchinson, D, Rodrigues, M, Lek, M, MacArthur, DG, Cooper, ST, Clarke, NF, Roxburgh, R.
A ‘limb-girdle muscular dystrophy’ responsive to asthma therapy.
Practical Neurology
17(4)
:
327
2017
view publication
-
Houweling, PJ, Berman, YD, Turner, N, Quinlan, KGR, Seto, JT, Yang, N, Lek, M, Macarthur, DG, Cooney, G, North, KN.
Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans.
International Journal of Obesity
41(7)
:
1154 -1157
2017
view publication
-
Cassa, CA, Weghorn, D, Balick, DJ, Jordan, DM, Nusinow, D, Samocha, KE, O'Donnell-Luria, A, MacArthur, DG, Daly, MJ, Beier, DR, et al.
Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
Nature Genetics
49(5)
:
806 -810
2017
view publication
-
Perić, S, Glumac, JN, Töpf, A, Savić-Pavićević, D, Phillips, L, Johnson, K, Cassop-Thompson, M, Xu, L, Bertoli, M, Lek, M, et al.
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
European Journal of Human Genetics
25(5)
:
572 -581
2017
view publication