Publications

for the most up-to-date list of publications visit here:

https://scholar.google.com/citations?user=BL0L_VQAAAAJ&hl=en&oi=ao

https://www.ncbi.nlm.nih.gov/pubmed/?term=gaulton+k

 

Fuchsberger C*, Flannick J*, Teslovich T*, Mahajan A*, Agarwala V*, Gaulton K*, et al.  The genetic architecture of type 2 diabetes.  Nature.  2016. (*co-first authors)

Gaulton KJ*, Ferreira T*, Lee Y*, Raimondo A*, Magi R*, Reschen M, [ … ], Gloyn AL, Altshuler D, Boehnke M, Teslovich TM, McCarthy MI, Morris AP. Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics. 2015. doi: 10.1038/ng.3437. (*co-first authors)

Reschen M*, Gaulton KJ*, Salous AK, Lin DA, Soilleux E, Smyth SS, Morris AJ, O’Callaghan C. Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease associated variant that regulates PPAP2B expression through altered C/EBP-beta binding. PLOS Genetics. 2015 Apr 2;11(4):e1005061 (*co-first authors)

Pasquali L*, Gaulton KJ*, Rodriguez-Segui S*, Mularoni L, Miguel-Escalada I, Akerman I, Tena JJ, Gomez-Marin C, van de Bunt M, Ponsa-Cobas J, Moran I, Castro N, Nammo T, Cebola I, Garcia-Hurtado J, Maestro MA, Pattou F, Piemonti L, Berny T, Gloyn A, Ravassard P, Skarmeta JL, Muller F, McCarthy MI, Ferrer J.   Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants. Nature Genetics. 46(2): 136-43. 2014. (*co-first authors)

Mahajan A*, Jin Go M*, Zhang W*, Below JE*, Gaulton KJ*, et al. Genome-wide trans-ethnic meta-analysis reveals novel insights into the genetic architecture of type 2-diabetes susceptibility. Nature Genetics. 46(3): 234-44. 2014. (*co-first authors)

Gaulton KJ*, Nammo T*, Pasquali L*, Simon JM, Giresi PG, Fogarty MP, Panhuis TM, Mieczkowski P, Secchi A, Bosco D, Berney T, Montanya E, Mohlke KL, Lieb JD, Ferrer J.   A map of open chromatin in human pancreatic islets. Nature Genetics. 42(3): 255-9. 2010. (*co-first authors)

Gaulton KJ, Willer CJ, Li Y, Scott LJ, Conneely KN, Jackson AU, Duren WL, Chines PS, Narisu N, Bonnycastle LL, Luo J, Tong M, Sprau AG, Pugh EW, Doheny KF, Valle TT, Abecasis GR, Tuomilehto J, Bergman RN, Collins FS, Boehnke M, Mohlke KL.   Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.   Diabetes. 57(11): 3136-44. 2008.

Gaulton KJ, Mohlke KL, Vision TJ. A computational system to select candidate genes for complex human traits. Bioinformatics. 23(9): 1132-40. 2007.

van de Bunt M, Fox JE, Dai X, Barrett A, Grey C, Li L, Bennett A, Johnson PR, Rajotte RV, Gaulton KJ, Dermitzakis ET, MacDonald PE, McCarthy MI, Gloyn AL. Transcript expression data from human islets links regulatory signals from genome-wide association studies for type 2 diabetes and glycemic traits to their downstream effectors. PLOS Genetics. 11(12):e1005694. 2015.

Roman TS, Marvelle AF, Fogarty MP, Vadlamudi S, Gonzalez AJ, Buchkovich ML, Huyghe JR, Fuchsberger C, Jackson AU, Wu Y, Gaulton KJ, et al. Functional regulatory variants at the GALNT2 human high-density lipoprotein cholesterol locus. Am J Hum Genet. 97(6): 801-815. 2015.

Horikoshi M, Magi R, van de Bunt M, Surakka I, Sarin A, Mahajan A, Marullo L, Thorleifsson G, Hagg S, Hottenga J, Ladenvall C, Ried JS, Winkler TW, Willems SM, Tsernikova N, Esko T, Beekman M, [14] Nelson CP, Willenborg C, Wiltshire S, Ferreira T, Fernandez J, Gaulton KJ, et al. Discovery and fine-mapping of glycaemic and obesity-related trait loci using high-density imputation. PLOS Genetics. 11(7):e1005230. 2105.

Moutsianas L, Agarwala V, Fuchsberger C, Flannick J, Rivas M, Gaulton KJ, the GoT2D Consortium, McVean G, Boehnke M, Altshuler D, McCarthy MI. The power of gene-based rare variant methods to detect disease associated variation and test hypotheses about complex disease. PLOS Genetics. 11(4):e1005165. 2015

Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, Locke AE, Grarup N, Im HK, Cingolani P, Flannick J, Fontanillas P, Fuchsberger C, Gaulton KJ, et al. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits defines effector transcript at the G6PC2-ABCB11 locus. PLOS Genetics. 2015 Jan 27.

Wood AR, Tuke MA, Nalls M, Hernandez D, Gibbs JR, Lin H, Xu CS, Li Q, Shen J, Jun G, Almedia M, Tanaka T, Perry JR, Gaulton KJ, et al. Whole genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. Human Molecular Genetics. 2014 Nov 6

McCarthy D, Humburg P, Kanapin A, Rivas MA, Gaulton KJ, WGS500 Consortium, Cazier J, Donnelly P. Choice of transcripts and software has a large effect on variant annotation. Genome Medicine. 6(3): 26. 2014.

Lange LA, Hu Y, Zhang H, Xue C, Schmidt E, Tang Z, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li K, Flannick J, Zhang J, Fuchsberger C, Gaulton K, et al. Whole-exome sequencing identifies rare and low frequency coding variants associated with LDL cholesterol. American Journal of Human Genetics. 94(2): 233-245. 2014.

Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, Tan S, Loh M, Lehne B, O’Reilly P, Gaulton KJ, et al. The South Asian Genome.   PLOS One. 9(8): e102645. 2014.

Fogarty M, Swarooparani V, Cannon ME, Gaulton KJ, Mohlke KL. Identification of a regulatory variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D type 2 diabetes GWAS locus. PLOS Genetics. 10(9): e1004633. 2014.

van de Bunt M, Gaulton KJ, Parts L, Moran I, Johnson PR, Lindgren CM, Ferrer J, Gloyn AL, McCarthy MI. The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis. PLOS One. 8(1): e55272. 2013.

Rivas MA, Pirinen M, Neville MJ, Gaulton KJ, Moutsianas L, Lindgren CM, Karpe F, McCarthy MI, Donnelly P. Assessing association between protein truncating variants and quantitative traits. Bioinformatics. 29(19): 2419-26. 2013.

Lange LA, Croteau-Chonka DC, Marvelle AF, Qin L, Gaulton KJ, Kuzawa CW, McDade TW, Wang Y, Li Y, Levy S, Borja JB, Lange EM, Adair LS, Mohlke KL. Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.   Human Molecular Genetics. 19(10): 2050-8. 2010.

 

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