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James Hughes
James Hughes
Verified email at adelaide.edu.au
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Cited by
Cited by
Year
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ...
Nature genetics 45 (5), 546-551, 2013
3792013
Large deletions induced by Cas9 cleavage
F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ...
Nature 560 (7717), E8-E9, 2018
3162018
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ...
The American Journal of Human Genetics 90 (1), 152-160, 2012
3052012
Identification of SOX3 as an XX male sex reversal gene in mice and humans
E Sutton, J Hughes, S White, R Sekido, J Tan, V Arboleda, N Rogers, ...
The Journal of clinical investigation 121 (1), 328-341, 2011
2942011
NAD deficiency, congenital malformations, and niacin supplementation
H Shi, A Enriquez, M Rapadas, EMMA Martin, R Wang, J Moreau, CK Lim, ...
New England Journal of Medicine 377 (6), 544-552, 2017
2262017
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ...
Annals of neurology 79 (1), 120-131, 2016
2082016
Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy
DT Pederick, KL Richards, SG Piltz, R Kumar, S Mincheva-Tasheva, ...
Neuron 97 (1), 59-66. e5, 2018
1222018
Targeted deletion of an entire chromosome using CRISPR/Cas9
F Adikusuma, N Williams, F Grutzner, J Hughes, P Thomas
Molecular Therapy 25 (8), 1736-1738, 2017
972017
Differential modulation of motor cortex excitability in BDNF Met allele carriers following experimentally induced and use‐dependent plasticity
J Cirillo, J Hughes, M Ridding, PQ Thomas, JG Semmler
European Journal of Neuroscience 36 (5), 2640-2649, 2012
942012
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
DT Pederick, CC Homan, EJ Jaehne, SG Piltz, BP Haines, BT Baune, ...
Scientific reports 6 (1), 26765, 2016
662016
Comparison of KP1019 and NAMI-A in tumour-mimetic environments
GK Gransbury, P Kappen, CJ Glover, JN Hughes, A Levina, PA Lay, ...
Metallomics 8 (8), 762-773, 2016
552016
Interchromosomal Insertional Translocation at Xq26.3 Alters SOX3 Expression in an Individual With XX Male Sex Reversal
B Haines, J Hughes, M Corbett, M Shaw, J Innes, L Patel, J Gecz, ...
The Journal of Clinical Endocrinology & Metabolism 100 (5), E815-E820, 2015
552015
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
J Hughes, R Dawson, M Tea, D McAninch, S Piltz, D Jackson, L Stewart, ...
Scientific reports 7 (1), 12618, 2017
542017
Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation
S Polling, AR Ormsby, RJ Wood, K Lee, C Shoubridge, JN Hughes, ...
Nature structural & molecular biology 22 (12), 1008-1015, 2015
472015
Effect of alteplase on the CT hyperdense artery sign and outcome after ischemic stroke
G Mair, R von Kummer, Z Morris, A von Heijne, N Bradey, L Cala, ...
Neurology 86 (2), 118-125, 2016
422016
Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy
RE Dawson, AFN Guil, LJ Robertson, SG Piltz, JN Hughes, PQ Thomas
Neurobiology of disease 134, 104640, 2020
412020
Identification of an IGSF1‐specific deletion in a five‐generation pedigree with X‐linked Central Hypothyroidism without macroorchidism
JN Hughes, M Aubert, J Heatlie, A Gardner, J Gecz, T Morgan, J Belsky, ...
Clinical endocrinology 85 (4), 609-615, 2016
392016
Congenital Hydrocephalus and Abnormal Subcommissural Organ Development in Sox3 Transgenic Mice
K Lee, J Tan, MB Morris, K Rizzoti, J Hughes, PS Cheah, F Felquer, X Liu, ...
PloS one 7 (1), e29041, 2012
362012
Functional equivalence of the SOX2 and SOX3 transcription factors in the developing mouse brain and testes
F Adikusuma, D Pederick, D McAninch, J Hughes, P Thomas
Genetics 206 (3), 1495-1503, 2017
342017
Better outcomes for hospitalized patients with TIA when in stroke units: an observational study
DA Cadilhac, J Kim, NA Lannin, CR Levi, HM Dewey, K Hill, S Faux, ...
Neurology 86 (22), 2042-2048, 2016
322016
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