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Prokudin, I, Simons, C, Grigg, JR, Storen, R, Kumar, V, Phua, ZY, Smith, J, Flaherty, M, Davila, S, Jamieson, RV.
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1..
Eur J Hum Genet
22(7)
:
907 -915
2014
view publication
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Miller, DK, Menezes, MJ, Simons, C, Riley, LG, Cooper, ST, Grimmond, SM, Thorburn, DR, Christodoulou, J, Taft, RJ.
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient..
PLoS One
9(8)
:
e104879
2014
view publication
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Vanderver, A, Simons, C, Schmidt, JL, Pearl, PL, Bloom, M, Lavenstein, B, Miller, D, Grimmond, SM, Taft, RJ.
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy..
Pediatr Neurol
50(1)
:
112 -114
2014
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Smith, K, Paterson, S, Capon, S, De Angelis, J, Grassini, D, Lagendijk, A, Bailey, G, Simons, C, Taft, R, Hogan, B.
A large-scale phenotype-to-genotype screen identifies regulators of cardiac development and function.
Heart Lung and Circulation
23:
e17
2014
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Wolf, N, van der Knaap, de Coo, I, Vanderver, A, Leventer, R, Damiani, S, Simons, C, Juneja, M, Verma, I, Prabhakar, P, et al.
O14 – 1917 Hypomyelination with brain stem and spinal cord involvement and severe leg spasticity (HBSL): mutations in DARS are responsible.
European Journal of Paediatric Neurology
17:
s5
2013
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