-
Ghaoui, R, Benavides, T, Lek, M, Waddell, LB, Kaur, S, North, KN, MacArthur, DG, Clarke, NF, Cooper, ST.
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy..
Neuromuscul Disord
26(8)
:
500 -503
2016
view publication
-
O'Grady, GL, Ma, A, Sival, D, Wong, MTY, Peduto, T, Menezes, MP, Young, H, Waddell, L, Ghaoui, R, Needham, M, et al.
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease..
Eur J Hum Genet
24(8)
:
1216 -1219
2016
view publication
-
O'Grady, GL, Lek, M, Lamande, SR, Waddell, L, Oates, EC, Punetha, J, Ghaoui, R, Sandaradura, SA, Best, H, Kaur, S, et al.
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there..
Ann Neurol
80(1)
:
101 -111
2016
view publication
-
Mégarbané, A, Al-Ali, R, Choucair, N, Lek, M, Wang, E, Ladjimi, M, Rose, CM, Hobeika, R, Macary, Y, Temanni, R, et al.
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?.
BMC Med Genet
17(1)
:
42
2016
view publication
-
MacArthur, D.
Superheroes of disease resistance..
Nat Biotechnol
34(5)
:
512 -513
2016
view publication