James Hughes
James Hughes
Verified email at adelaide.edu.au
TitleCited byYear
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
2072012
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, 2013
2002013
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
1762011
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
762016
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
592012
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
442017
Large deletions induced by Cas9 cleavage
F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ...
Nature 560 (7717), E8, 2018
262018
A Novel Role for γ‐Secretase in the Formation of Primitive Streak‐like Intermediates from ES Cells in Culture
JN Hughes, N Dodge, PD Rathjen, J Rathjen
Stem cells 27 (12), 2941-2951, 2009
252009
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
232012
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, 2015
222015
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
222015
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
212016
Response to BMP4 signalling during ES cell differentiation defines intermediates of the ectoderm lineage
NT Harvey, JN Hughes, A Lonic, C Yap, C Long, PD Rathjen, J Rathjen
J Cell Sci 123 (10), 1796-1804, 2010
192010
Targeted deletion of an entire chromosome using CRISPR/Cas9
F Adikusuma, N Williams, F Grutzner, J Hughes, P Thomas
Molecular Therapy 25 (8), 1736, 2017
172017
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, 26765, 2016
172016
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
162016
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
152017
Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism
J Hughes, S Piltz, N Rogers, D McAninch, L Rowley, P Thomas
PLoS genetics 9 (3), e1003290, 2013
152013
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
132018
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
132017
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Articles 1–20