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Page 1
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, … See abstract for full author list ➔ Flannick J, et al. Among authors: fuchsberger c. Sci Data. 2018 Jan 23;5:180002. doi: 10.1038/sdata.2018.2. Sci Data. 2018. PMID: 29360107 Free PMC article.
Independent test assessment using the extreme value distribution theory.
Almeida M, Blondell L, Peralta JM, Kent JW Jr, Jun G, Teslovich TM, Fuchsberger C, Wood AR, Manning AK, Frayling TM, Cingolani PE, Sladek R, Dyer TD, Abecasis G, Duggirala R, Blangero J. Almeida M, et al. Among authors: fuchsberger c. BMC Proc. 2016 Oct 18;10(Suppl 7):245-249. doi: 10.1186/s12919-016-0038-5. eCollection 2016. BMC Proc. 2016. PMID: 27980644 Free PMC article.
Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees.
Almasy L, Dyer TD, Peralta JM, Jun G, Wood AR, Fuchsberger C, Almeida MA, Kent JW Jr, Fowler S, Blackwell TW, Puppala S, Kumar S, Curran JE, Lehman D, Abecasis G, Duggirala R, Blangero J; T2D-GENES Consortium. Almasy L, et al. Among authors: fuchsberger c. BMC Proc. 2014 Jun 17;8(Suppl 1):S2. doi: 10.1186/1753-6561-8-S1-S2. eCollection 2014. BMC Proc. 2014. PMID: 25519314 Free PMC article.
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Service SK, Teslovich TM, Fuchsberger C, Ramensky V, Yajnik P, Koboldt DC, Larson DE, Zhang Q, Lin L, Welch R, Ding L, McLellan MD, O'Laughlin M, Fronick C, Fulton LL, Magrini V, Swift A, Elliott P, Jarvelin MR, Kaakinen M, McCarthy MI, Peltonen L, Pouta A, Bonnycastle LL, Collins FS, Narisu N, Stringham HM, Tuomilehto J, Ripatti S, Fulton RS, Sabatti C, Wilson RK, Boehnke M, Freimer NB. Service SK, et al. Among authors: fuchsberger c. PLoS Genet. 2014 Jan 30;10(1):e1004147. doi: 10.1371/journal.pgen.1004147. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497850 Free PMC article.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium; NHGRI JHS/FHS Allelic Spectrum Project; SIGMA T2D Consortium; T2D-GENES Consortium; Rosen ED, Altshuler D. Majithia AR, et al. Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25. Proc Natl Acad Sci U S A. 2014. PMID: 25157153 Free PMC article.
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium; Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Khurana E, et al. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. Science. 2013. PMID: 24092746 Free PMC article.
Genes predict village of origin in rural Europe.
O'Dushlaine C, McQuillan R, Weale ME, Crouch DJ, Johansson A, Aulchenko Y, Franklin CS, Polašek O, Fuchsberger C, Corvin A, Hicks AA, Vitart V, Hayward C, Wild SH, Meitinger T, van Duijn CM, Gyllensten U, Wright AF, Campbell H, Pramstaller PP, Rudan I, Wilson JF. O'Dushlaine C, et al. Among authors: fuchsberger c. Eur J Hum Genet. 2010 Nov;18(11):1269-70. doi: 10.1038/ejhg.2010.92. Epub 2010 Jun 23. Eur J Hum Genet. 2010. PMID: 20571506 Free PMC article.
159 results