-
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.
European Journal of Human Genetics
22(7)
:
907 -915
2014
view publication
-
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.
Pediatric Neurology
50(1)
:
112 -114
2014
view publication
-
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
view publication
-
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
view publication
-
Taft, RJ, Vanderver, A, Leventer, RJ, Damiani, SA, Simons, C, Grimmond, SM, Miller, D, Schmidt, J, Lockhart, PJ, Pope, K, et al.
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity.
American Journal of Human Genetics
92(5)
:
774 -780
2013
view publication