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  • Showing 1-7 of 7 Results
2016
Migraine genetics: from genome-wide association studies to translational insights.Gormley, P., Winsvold BS, Nyholt DR, Kallela M., Chasman DI, and Palotie A. Genome medicine, 2016/08/19, Volume 8, Issue 1, p.86, (2016) Read More / View Supplemental Materials
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.Gormley, P., Anttila V., Winsvold BS, Palta P., Esko T., Pers TH, Farh KH, Cuenca-Leon E., Muona M., Furlotte NA, Kurth T., Ingason A., McMahon G., Ligthart L., Terwindt GM, Kallela M., Freilinger TM, Ran C., Gordon SG, Stam AH, et al. Nature genetics, 2016/06/20, (2016) Read More / View Supplemental Materials
Abstract
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.Lal, D., Reinthaler EM, Dejanovic B., May P., Thiele H., Lehesjoki AE, Schwarz G., Riesch E., Ikram MA, Duijn CM, Uitterlinden AG, Hofman A., Steinböck H., Gruber-Sedlmayr U., Neophytou B., Zara F., Hahn A., Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Gormley P., et al. PloS one, 2016/01/01, Volume 11, Issue 3, p.e0150426, (2016) Read More / View Supplemental Materials
Abstract
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 1-7 of 7 Results