-
Taylor, PN, Porcu, E, Chew, S, Campbell, PJ, Traglia, M, Brown, SJ, Mullin, BH, Shihab, HA, Min, J, Walter, K, et al.
Whole-genome sequence-based analysis of thyroid function..
Nat Commun
6:
5681
2015
view publication
-
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..
J Clin Invest
125(1)
:
456 -457
2015
view publication
-
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..
J Clin Invest
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