Publications

Farmaki A-E, Rayner W, Gilly A, et alA Dietary Pattern with High Sugar Content is Associated with Cardiometabolic Risk Factors in the Pomak Population. Nutrients. 2019 Dec 11(12):3043 PMID: 31847144

Gilly A, Southam L, Süveges, et al. Very low-depth whole-genome sequencing in complex trait association studies. Bioinformatics. 2019 Aug 1;35(15):2555-2561. PMID: 30576415 

Zheng J, Maerz W, Gergei I, et al. Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures. J Bone Miner Res. 2019 Jun 6 10.1002 PMID:31170332

Justice AE, Karaderi T, Highland HM, et al. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nature Genetics 2019 Mar;50:172-4. PMID:30778226

Haworth S, Shapland CY, Hayward C, et al. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nat Commun Jan 2019;10:357. PMID:3064637

Hackinger S, Prins B, Mamakou V, et al. Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia. Transl Psychiatry. 2018 Nov 23;8(1):252. PMID:30470734

Gilly A, Süveges D, Kuchenbaecker K, et al. Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits. Nat Commun. 2018 Nov 7;9(1):4674.PMID: 30568165

Grarup N, Moltke I, Anderson MK, et al. Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. Nat Commun Feb 2018;10:357. PMID: 29311636

Xue Y, Mezzavilla M, Haber M, et al. Enrichment of low frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. Nat Commun 2017 Jun 23;8:5927. PMID: 28643794

Farmaki AE, Rayner NW, Matchan A, et al. The mountainous Cretan dietary patterns and their relationship with cardiovascular risk factors: The Hellenic Isolated Cohorts Manolis Study. Public Health Nutr.2017 Apr;20(6):0631074.PMID: 27989266

Southam L, Gilly A, Süveges D, et al. Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. Nat Commun 2017, May 26;8:15606. PMID:28548082 

Marouli E, Graff M, Medina-Gomez C, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017 Feb 9;542(7640):186-190. PMID: 28146470.

Van den Berg ME, Warren HR, Cabrera CP, et al. Discovery of novel heart rate-associated loci using the Exome Chip. Hum Mol Genet. 2017 Apr 3, 10.1093. PMID: 28379579.

Ried JS, Jeff M J, Chu AY, et al. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun. 2016 Nov 23;7:13357. PMID: 27876822.

Lotchkova V, Huang J, Morris JA, et al. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nat Genet. 2016 Nov;48(11):1303-1312. PMID: 27668658

McCarthy S, Das S, Kretzschmar W, et al A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016 Oct;48(10):1279-83. PMID: 27548312.

Surendran P, Drenos F, Young R, et al. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Nat Genet. 2016 Oct;48(10):1151-61. PMID:27618447.

Gilly A, Ritchie GR, Southam L, et al. Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation. Hum Mol Genet. 2016, PMID:27146844

Zeggini E, Gloyn AL, Hansen T, et al. Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland. Diabetologia 2016, 5:938-41. PMID:26993633.

Kanoni S, Masca NGD, Stirrups KE, et al. Analysis with the exome array identifies multiple new independent variants in lipid loci Hum Mol Genet. (2016) 25 (18): 4094-4106. PMID:27466198.

Zoledziewska M, Sidore C, Chiang CW, et al. Height-reducing variants and selection for short stature in Sardinia. Nat Genet. 2015 47(11):1352-6. PMID: 26366551.

Sidore C, Busonero F, Maschio A, et al. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat Genet. 2015 47(11):1272-81. PMID: 26366554

Winkler TW, Justice AE, Graff M, et al. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet. 2015 11(10) PMID: 27355579

UK10K Consortium, Walter K, Min JL, HuangJ, et al. The UK10K project identifies rare variants in health and disease. Nature 2015 526(7571):82-90. PMID:26367797.   

Joshi PK, Esko T, Mattsson H, et al. Directional dominance on stature and cognition in diverse human populations. Nature 2015 523(7561):459-62. PMID:26131930

Wessel J, Chu AY, Willems SM, et al. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 6:5897. PMID: 25631608 

Hatzikotoulas K, Gilly A and Zeggini E, et al. Using population isolates in genetic association studies Brief Funct Genomics. (2014) 13 (5): 371-377. PMID: 25009120

Panoutsopoulou K, Hatzikotoulas K, Xifara DK,et al. Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants. Nat Commun 2014, 5:5345.PMID: 25373335.   

Timpson NJ, Walter K, Min JL, et al. A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nat Commun. 2014 Sep 16;5:4871.PMID: 25225788

Tachmazidou I, Dedoussis G, Southam L, et al. A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates. Nat Commun 2013, 4:2872. PMID: 24343240