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  • Showing 1-14 of 14 Results
2014
A framework for the interpretation of de novo mutation in human disease.Samocha, KE, Robinson EB, Sanders SJ, Stevens C., Sabo A., McGrath LM, Kosmicki JA, Rehnström K., Mallick S., Kirby A., Wall DP, Macarthur DG, Gabriel SB, DePristo M., Purcell SM, Palotie A., Boerwinkle E., Buxbaum JD, Cook EH Jr, Gibbs RA, et al. Nature genetics, 2014/08/03, (2014) Read More / View Supplemental Materials
Abstract
Describing the genetic architecture of epilepsy through heritability analysis.Speed, D., O'Brien TJ, Palotie A., Shkura K., Marson AG, Balding DJ, and Johnson MR Brain : a journal of neurology, 2014/07/26, (2014) Read More / View Supplemental Materials
Abstract
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.Perry, JR, Day F., Elks CE, Sulem P., Thompson DJ, Ferreira T., He C., Chasman DI, Esko T., Thorleifsson G., Albrecht E., Ang WQ, Corre T., Cousminer DL, Feenstra B., Franceschini N., Ganna A., Johnson AD, Kjellqvist S., Lunetta KL, et al. Nature, 2014/07/23, (2014) Read More / View Supplemental Materials
Abstract
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.Ahola, S., Isohanni P., Euro L., Brilhante V., Palotie A., Pihko H., Lönnqvist T., Lehtonen T., Laine J., Tyynismaa H., and Suomalainen A. Neurology, 2014/07/18, (2014) Read More / View Supplemental Materials
Abstract
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.Lim, ET, Würtz P., Havulinna AS, Palta P., Tukiainen T., Rehnström K., Esko T., Mägi R., Inouye M., Lappalainen T., Chan Y., Salem RM, Lek M., Flannick J., Sim X., Manning A., Ladenvall C., Bumpstead S., Hämäläinen E., Aalto K., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
A Central Role for GRB10 in Regulation of Islet Function in Man.Prokopenko, I., Poon W., Mägi R., Prasad B R., Salehi SA, Almgren P., Osmark P., Bouatia-Naji N., Wierup N., Fall T., Stančáková A., Barker A., Lagou V., Osmond C., Xie W., Lahti J., Jackson AU, Cheng YC, Liu J., O'Connell JR, et al. PLoS genetics, 2014/04/01, Volume 10, Issue 4, p.e1004235, (2014) Read More / View Supplemental Materials
Abstract
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
Biomarker profiling by nuclear magnetic resonance spectroscopy for the prediction of all-cause mortality: an observational study of 17,345 persons.Fischer, K., Kettunen J., Würtz P., Haller T., Havulinna AS, Kangas AJ, Soininen P., Esko T., Tammesoo ML, Mägi R., Smit S., Palotie A., Ripatti S., Salomaa V., Ala-Korpela M., Perola M., and Metspalu A. PLoS medicine, 2014/02/01, Volume 11, Issue 2, p.e1001606, (2014) Read More / View Supplemental Materials
Abstract
A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility.Damotte, V., Guillot-Noel L., Patsopoulos NA, Madireddy L., El Behi M., International Multiple Sclerosis Genetics Consortium, Ban M., Baranzini S., Barcellos L., Beecham G., Beecham A., Bernardinelli L., Booth D., Bos S., Buck D., Bush W., Comabella M., Compston A., Cotsapas C., Cournu-Rebeix I., et al. Genes and immunity, 2014/01/16, (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
2013
Common variants associated with plasma triglycerides and risk for coronary artery disease.Do, R., Willer CJ, Schmidt EM, Sengupta S., Gao C., Peloso GM, Gustafsson S., Kanoni S., Ganna A., Chen J., Buchkovich ML, Mora S., Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A., Den Hertog HM, Donnelly LA, Ehret GB, Esko T., et al. Nature genetics, 2013/11/01, Volume 45, Issue 11, p.1345-52, (2013) Read More / View Supplemental Materials
Abstract
2012
From genetic discovery to future personalized health research.Palotie, A., Widén E., and Ripatti S. New biotechnology, 2012/11/16, (2012) Read More / View Supplemental Materials
Abstract
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.Manning, AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N., Chen H., Rybin D., Liu CT, Bielak LF, Prokopenko I., Amin N., Barnes D., Cadby G., Hottenga JJ, Ingelsson E., Jackson AU, Johnson T., Kanoni S., Ladenvall C., Lagou V., et al. Nature genetics, 2012/05/13, Volume 44, Issue 6, p.659-669, (2012) Read More / View Supplemental Materials
Abstract
2010
Integrating common and rare genetic variation in diverse human populations.International HapMap 3, Consortium, Altshuler DM, Gibbs RA, Peltonen L., Altshuler DM, Gibbs RA, Peltonen L., Dermitzakis E., Schaffner SF, Yu F., Peltonen L., Dermitzakis E., Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P., Gabriel SB, Gwilliam R., Hunt S., et al. Nature, 2010/09/02, Volume 467, Issue 7311, p.52-8, (2010) Read More / View Supplemental Materials
Abstract
  • Showing 1-14 of 14 Results