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Wan, J, Steffen, J, Yourshaw, M, Mamsa, H, Andersen, E, Rudnik-Schöneborn, S, Pope, K, Howell, KB, McLean, CA, Kornberg, AJ, et al.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia..
Brain
139(11)
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2877 -2890
2016
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Phelan, DG, Anderson, DJ, Howden, SE, Wong, RCB, Hickey, PF, Pope, K, Wilson, GR, Pébay, A, Davis, AM, Petrou, S, et al.
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy..
European Heart Journal
37(33)
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2586 -2590
2016
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Kruse, CA, Pardo, CA, Hartman, AL, Jallo, G, Vining, EPG, Voros, J, Gaillard, WD, Liu, J, Oluigbo, C, Malone, S, et al.
Rasmussen encephalitis tissue transfer program.
Epilepsia
57(6)
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1005 -1007
2016
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Wilson, BT, Stark, Z, Sutton, RE, Danda, S, Ekbote, AV, Elsayed, SM, Gibson, L, Goodship, JA, Jackson, AP, Keng, WT, et al.
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Genetics in Medicine
18(5)
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483 -493
2016
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Sim, JC, Scerri, T, Fanjul-Fernández, M, Riseley, JR, Gillies, G, Pope, K, van Roozendaal, H, Heng, JI, Mandelstam, SA, McGillivray, G, et al.
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Annals of Neurology
79(1)
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132 -137
2016
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