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 | 379 | 2013 |
Large deletions induced by Cas9 cleavage F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ... Nature 560 (7717), E8-E9, 2018 | 313 | 2018 |
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 | 303 | 2012 |
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 | 293 | 2011 |
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 | 226 | 2017 |
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 | 208 | 2016 |
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 | 121 | 2018 |
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 | 97 | 2017 |
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 | 94 | 2012 |
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 | 65 | 2016 |
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 | 55 | 2016 |
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 | 55 | 2015 |
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 | 54 | 2017 |
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 | 47 | 2015 |
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 | 42 | 2016 |
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 | 41 | 2020 |
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 | 39 | 2016 |
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 | 36 | 2012 |
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 | 34 | 2017 |
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 | 32 | 2016 |