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1.
Justice, A.E.* et al.: Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat. Genet. 51, 452–469 (2019)
2.
Flannick, J.* et al.: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci. Data 5:180002 (2018)
3.
Rivas, M.A.* et al.: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 14:e1007329 (2018)
4.
Flannick, J.* et al.: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci. Data 4:170179 (2017)
5.
Manning, A.* et al.: A low-frequency inactivating Akt2 variant enriched in the Finnish population is associated with fasting insulin levels and type 2 diabetes risk. Diabetes 66, 2019-2032 (2017)
6.
Marouli, E.* et al.: Rare and low-frequency coding variants alter human adult height. Nature 542, 186-190 (2017)
7.
Ferreira, P.G.* et al.: Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing. Sci. Rep. 6, 32406 (2016)
8.
Fuchsberger, C.* et al.: The genetic architecture of type 2 diabetes. Nature 536, 41-47 (2016)
9.
Mahajan, A.* et al.: Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PLoS Genet. 11:e1004876 (2015)
10.
Moutsianas, L.* et al.: The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet. 11:e1005165 (2015)
11.
Lange, L.A.* et al.: Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am. J. Hum. Genet. 94, 233-245 (2014)
12.
Ellinghaus, D.* et al.: Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology 145, 339-347 (2013)
13.
Lappalainen, T.* et al.: Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501, 506-511 (2013)
14.
Rivas, M.A.* et al.: Assessing association between protein truncating variants and quantitative traits. Bioinformatics 29, 2419-2426 (2013)
15.
Ameur, A.* et al.: Genetic adaptation of fatty-acid metabolism: A human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Am. J. Hum. Genet. 90, 809-820 (2012)