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2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.Dejanovic, B., Djémié T., Grünewald N., Suls A., Kress V., Hetsch F., Craiu D., Zemel M., Gormley P., Lal D., group EuroEPINOMICS Dravet working, Myers CT, Mefford HC, Palotie A., Helbig I., Meier JC, De Jonghe P., Weckhuysen S., and Schwarz G. EMBO molecular medicine, 2015/11/27, (2015) Read More / View Supplemental Materials
Abstract
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.Leu, C., Balestrini S., Maher B., Hernández-Hernández L., Gormley P., Hämäläinen E., Heggeli K., Schoeler N., Novy J., Willis J., Plagnol V., Ellis R., Reavey E., O'Regan M., Pickrell WO, Thomas RH, Chung SK, Delanty N., McMahon JM, Malone S., et al. EBioMedicine, 2015/09/01, Volume 2, Issue 9, p.1063-70, (2015) Read More / View Supplemental Materials
Abstract
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.Rees, E., Kirov G., Walters JT, Richards AL, Howrigan D., Kavanagh DH, Pocklington AJ, Fromer M., Ruderfer DM, Georgieva L., Carrera N., Gormley P., Palta P., Williams H., Dwyer S., Johnson JS, Roussos P., Barker DD, Banks E., Milanova V., et al. Translational psychiatry, 2015/07/21, Volume 5, p.e607, (2015) Read More / View Supplemental Materials
Abstract
2014
De novo mutations in schizophrenia implicate synaptic networks.Fromer, M., Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S., Gormley P., Georgieva L., Rees E., Palta P., Ruderfer DM, Carrera N., Humphreys I., Johnson JS, Roussos P., Barker DD, Banks E., Milanova V., Grant SG, Hannon E., Rose SA, et al. Nature, 2014/02/13, Volume 506, Issue 7487, p.179-84, (2014) Read More / View Supplemental Materials
Abstract
  • Showing 1-4 of 4 Results