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  • Showing 1-8 of 8 Results
2016
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.Surendran, P., Drenos F., Young R., Warren H., Cook JP, Manning AK, Grarup N., Sim X., Barnes DR, Witkowska K., Staley JR, Tragante V., Tukiainen T., Yaghootkar H., Masca N., Freitag DF, Ferreira T., Giannakopoulou O., Tinker A., Harakalova M., et al. Nature genetics, 2016/09/12, (2016) Read More / View Supplemental Materials
Abstract
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
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
2015
Analysis of the ACTN3 Heterozygous Genotype Suggests That α-Actinin-3 Controls Sarcomeric Composition and Muscle Function in a Dose-Dependent Fashion.Hogarth, MW, Garton FC, Houweling PJ, Tukiainen T., Lek M., Macarthur DG, Seto JT, Quinlan KG, Yang N., Head SI, and North KN Human molecular genetics, 2015/12/17, (2015) Read More / View Supplemental Materials
Abstract
The transcriptional landscape of age in human peripheral blood.Peters, MJ, Joehanes R., Pilling LC, Schurmann C., Conneely KN, Powell J., Reinmaa E., Sutphin GL, Zhernakova A., Schramm K., Wilson YA, Kobes S., Tukiainen T., NABEC/UKBEC Consortium, Ramos YF, Göring HH, Fornage M., Liu Y., Gharib SA, Stranger BE, et al. Nature communications, 2015/10/22, Volume 6, p.8570, (2015) Read More / View Supplemental Materials
Abstract
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.Rivas, MA, Pirinen M., Conrad DF, Lek M., Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, Deluca DS, Fromer M., Ferreira PG, Smith KS, Zhang R., Zhao F., Banks E., Poplin R., Ruderfer DM, Purcell SM, Tukiainen T., Minikel EV, et al. Science (New York, N.Y.), 2015/05/08, Volume 348, Issue 6235, p.666-9, (2015) Read More / View Supplemental Materials
Abstract
2014
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
Chromosome x-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation.Tukiainen, T., Pirinen M., Sarin AP, Ladenvall C., Kettunen J., Lehtimäki T., Lokki ML, Perola M., Sinisalo J., Vlachopoulou E., Eriksson JG, Groop L., Jula A., Järvelin MR, Raitakari OT, Salomaa V., and Ripatti S. PLoS genetics, 2014/02/01, Volume 10, Issue 2, p.e1004127, (2014) Read More / View Supplemental Materials
Abstract
  • Showing 1-8 of 8 Results