|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
|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
|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
|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
|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
|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
|Large deletions induced by Cas9 cleavage|
F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ...
Nature 560 (7717), E8, 2018
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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