-
Yuen, M, Sandaradura, SA, Dowling, JJ, Kostyukova, AS, Moroz, N, Quinlan, KG, Lehtokari, V-L, Ravenscroft, G, Todd, EJ, Ceyhan-Birsoy, O, et al.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Journal of Clinical Investigation
124(11)
:
4693 -4708
2014
view publication
-
Ghaoui, R, Corbett, A, Needham, M, MacArthur, D, Sue, C, Clarke, N.
19. Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort.
Journal of Clinical Neuroscience
21(11)
:
2039
2014
view publication
-
Ghaoui, R, Corbett, A, Needham, M, Farrar, M, Sampaio, H, Mowat, D, Rajagopalan, S, Liang, C, Kaur, S, Waddell, L, et al.
G.P.219 Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort.
Neuromuscular Disorders
24(9-10)
:
882 -883
2014
view publication
-
Oates, EC, Yau, KS, Charlton, A, Brammah, S, Farrar, MA, Sampaio, H, Lamont, PL, Mowat, D, Fitzsimons, RB, Corbett, A, et al.
G.P.35 Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies.
Neuromuscular Disorders
24(9-10)
:
805
2014
view publication
-
Majithia, AR, Flannick, J, Shahinian, P, Guo, M, Bray, M-A, Fontanillas, P, Gabriel, SB, Rosen, ED, Altshuler, D, Flannick, J, et al.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Proceedings of the National Academy of Sciences of the United States of America
111(36)
:
13127 -13132
2014
view publication