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2016
Analysis of protein-coding genetic variation in 60,706 humans.Lek, M., Karczewski KJ, Minikel EV, Samocha KE, Banks E., Fennell T., O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T., Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K., Zhao F., Zou J., Pierce-Hoffman E., Berghout J., Cooper DN, et al. Nature, 2016/08/17, Volume 536, Issue 7616, p.285-91, (2016) Read More / View Supplemental Materials
Abstract
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.Muona, M., Ishimura R., Laari A., Ichimura Y., Linnankivi T., Keski-Filppula R., Herva R., Rantala H., Paetau A., Pöyhönen M., Obata M., Uemura T., Karhu T., Bizen N., Takebayashi H., McKee S., Parker MJ, Akawi N., McRae J., Hurles ME, et al. American journal of human genetics, 2016/08/17, (2016) Read More / View Supplemental Materials
Abstract
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.Rivas, MA, Graham D., Sulem P., Stevens C., Desch AN, Goyette P., Gudbjartsson D., Jonsdottir I., Thorsteinsdottir U., Degenhardt F., Mucha S., Kurki MI, Li D., D'Amato M., Annese V., Vermeire S., Weersma RK, Halfvarson J., Paavola-Sakki P., Lappalainen M., et al. Nature communications, 2016/08/09, Volume 7, p.12342, (2016) Read More / View Supplemental Materials
Abstract
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
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.Singh, T., Kurki MI, Curtis D., Purcell SM, Crooks L., McRae J., Suvisaari J., Chheda H., Blackwood D., Breen G., Pietiläinen O., Gerety SS, Ayub M., Blyth M., Cole T., Collier D., Coomber EL, Craddock N., Daly M. J., Danesh J., et al. Nature neuroscience, 2016/04/01, Volume 19, Issue 4, p.571-7, (2016) Read More / View Supplemental Materials
Abstract
2015
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.Lal, D., Pernhorst K., Klein KM, Reif P., Tozzi R., Toliat MR, Winterer G., Neubauer B., Nürnberg P., Rosenow F., Becker F., Lerche H., Kunz WS, Kurki MI, Hoffmann P., Becker AJ, Perucca E., Zara F., Sander T., and Weber YG Epilepsia, 2015/07/15, (2015) Read More / View Supplemental Materials
Abstract
2014
Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.Foroud, T., Lai D., Koller D., Van't Hof F., Kurki MI, Anderson CS, Brown RD Jr, Connolly ES, Eriksson JG, Flaherty M., Fornage M., von Und Zu Fraunberg M., Gaál EI, Laakso A., Hernesniemi J., Huston J., Jääskeläinen JE, Kiemeney LA, Kivisaari R., Kleindorfer D., et al. Stroke; a journal of cerebral circulation, 2014/09/25, (2014) Read More / View Supplemental Materials
Abstract
High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.Kurki, MI, Gaál EI, Kettunen J., Lappalainen T., Menelaou A., Anttila V., van 't Hof FN, von Und Zu Fraunberg M., Helisalmi S., Hiltunen M., Lehto H., Laakso A., Kivisaari R., Koivisto T., Ronkainen A., Rinne J., Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, et al. PLoS genetics, 2014/01/01, Volume 10, Issue 1, p.e1004134, (2014) Read More / View Supplemental Materials
Abstract
  • Showing 1-8 of 8 Results