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Items: 1 to 20 of 215


Possible positive effect of the APOE ε2 allele on cognition in early to mid-adult life.

Sinclair LI, Pleydell-Pearce CW, Day INM.

Neurobiol Learn Mem. 2017 Dec;146:37-46. doi: 10.1016/j.nlm.2017.10.008. Epub 2017 Oct 12.


Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women.

Guyatt AL, Burrows K, Guthrie PAI, Ring S, McArdle W, Day INM, Ascione R, Lawlor DA, Gaunt TR, Rodriguez S.

Mitochondrion. 2018 Mar;39:9-19. doi: 10.1016/j.mito.2017.08.007. Epub 2017 Aug 15.


HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics.

Zheng J, Rodriguez S, Laurin C, Baird D, Trela-Larsen L, Erzurumluoglu MA, Zheng Y, White J, Giambartolomei C, Zabaneh D, Morris R, Kumari M, Casas JP, Hingorani AD; UCLEB Consortium, Evans DM, Gaunt TR, Day IN.

Bioinformatics. 2017 Jan 1;33(1):79-86. doi: 10.1093/bioinformatics/btw565. Epub 2016 Sep 1.


Frequency of KLK3 gene deletions in the general population.

Rodriguez S, Al-Ghamdi OA, Guthrie PA, Shihab HA, McArdle W, Gaunt T, Alharbi KK, Day IN.

Ann Clin Biochem. 2017 Jul;54(4):472-480. doi: 10.1177/0004563216666999. Epub 2016 Aug 23.


Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions.

Erzurumluoglu AM, Shihab HA, Rodriguez S, Gaunt TR, Day IN.

Ann Hum Genet. 2016 May;80(3):187-96. doi: 10.1111/ahg.12150. Epub 2016 Mar 22. Review.


A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.

North TL, Ben-Shlomo Y, Cooper C, Deary IJ, Gallacher J, Kivimaki M, Kumari M, Martin RM, Pattie A, Sayer AA, Starr JM, Wong A, Kuh D, Rodriguez S, Day IN.

J Med Genet. 2016 Apr;53(4):280-8. doi: 10.1136/jmedgenet-2015-103342. Epub 2016 Feb 1.


Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis.

White J, Sofat R, Hemani G, Shah T, Engmann J, Dale C, Shah S, Kruger FA, Giambartolomei C, Swerdlow DI, Palmer T, McLachlan S, Langenberg C, Zabaneh D, Lovering R, Cavadino A, Jefferis B, Finan C, Wong A, Amuzu A, Ong K, Gaunt TR, Warren H, Davies TL, Drenos F, Cooper J, Ebrahim S, Lawlor DA, Talmud PJ, Humphries SE, Power C, Hypponen E, Richards M, Hardy R, Kuh D, Wareham N, Ben-Shlomo Y, Day IN, Whincup P, Morris R, Strachan MW, Price J, Kumari M, Kivimaki M, Plagnol V, Whittaker JC; International Consortium for Blood Pressure (ICBP), Smith GD, Dudbridge F, Casas JP, Holmes MV, Hingorani AD; UCLEB (University College London-London School of Hygiene & Tropical Medicine-Edinburgh-Bristol Consortium.

Lancet Diabetes Endocrinol. 2016 Apr;4(4):327-36. doi: 10.1016/S2213-8587(15)00386-1. Epub 2016 Jan 16.


Effect of smoking on physical and cognitive capability in later life: a multicohort study using observational and genetic approaches.

North TL, Palmer TM, Lewis SJ, Cooper R, Power C, Pattie A, Starr JM, Deary IJ, Martin RM, Aihie Sayer A, Kumari M, Cooper C, Kivimaki M, Kuh D, Ben-Shlomo Y, Day IN.

BMJ Open. 2015 Dec 15;5(12):e008393. doi: 10.1136/bmjopen-2015-008393.


Possible Association of APOE Genotype with Working Memory in Young Adults.

Sinclair LI, Button KS, Munafò MR, Day IN, Lewis G.

PLoS One. 2015 Aug 19;10(8):e0135894. doi: 10.1371/journal.pone.0135894. eCollection 2015.


Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.

Erzurumluoglu AM, Rodriguez S, Shihab HA, Baird D, Richardson TG, Day IN, Gaunt TR.

Biomed Res Int. 2015;2015:923491. doi: 10.1155/2015/923491. Epub 2015 Apr 6. Review.


Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

Rodriguez S, Gaunt TR, Guo Y, Zheng J, Barnes MR, Tang W, Danish F, Johnson A, Castillo BA, Li YR, Hakonarson H, Buxbaum SG, Palmer T, Tsai MY, Lange LA, Ebrahim S, Davey Smith G, Lawlor DA, Folsom AR, Hoogeveen R, Reiner A, Keating B, Day IN.

Eur J Hum Genet. 2016 Jan;24(1):106-12. doi: 10.1038/ejhg.2015.63. Epub 2015 Apr 29.


Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

Erzurumluoglu AM, Alsaadi MM, Rodriguez S, Alotaibi TS, Guthrie PA, Lewis S, Ginwalla A, Gaunt TR, Alharbi KK, Alsaif FM, Alsaadi BM, Day IN.

PLoS One. 2015 Mar 23;10(3):e0121351. doi: 10.1371/journal.pone.0121351. eCollection 2015.


An integrative approach to predicting the functional effects of non-coding and coding sequence variation.

Shihab HA, Rogers MF, Gough J, Mort M, Cooper DN, Day IN, Gaunt TR, Campbell C.

Bioinformatics. 2015 May 15;31(10):1536-43. doi: 10.1093/bioinformatics/btv009. Epub 2015 Jan 11.


Haptoglobin duplicon, hemoglobin, and vitamin C: analyses in the british women's heart and health study and Caerphilly prospective study.

Guthrie PA, Abdollahi MR, Gaunt T, Lawlor DA, Ben-Shlomo Y, Gallacher J, Davey Smith G, Day IN, Rodriguez S.

Dis Markers. 2014;2014:529456. doi: 10.1155/2014/529456. Epub 2014 Nov 30.


Influence of adiposity-related genetic markers in a population of saudi arabians where other variables influencing obesity may be reduced.

Alharbi KK, Richardson TG, Khan IA, Syed R, Mohammed AK, Boustred CR, Gaunt TR, Tamimi W, Al-Daghri NM, Day IN.

Dis Markers. 2014;2014:758232. doi: 10.1155/2014/758232. Epub 2014 Nov 17.


Canonical correlation analysis for gene-based pleiotropy discovery.

Seoane JA, Campbell C, Day IN, Casas JP, Gaunt TR.

PLoS Comput Biol. 2014 Oct 16;10(10):e1003876. doi: 10.1371/journal.pcbi.1003876. eCollection 2014 Oct.


Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN.

Hum Mutat. 2014 Dec;35(12):1446-8. doi: 10.1002/humu.22698.


FH4=STAP1. Another gene for familial hypercholesterolemia? Relevance to cascade testing and drug development?

Day IN.

Circ Res. 2014 Aug 29;115(6):534-6. doi: 10.1161/CIRCRESAHA.114.304801. No abstract available.


Associations between APOE and low-density lipoprotein cholesterol genotypes and cognitive and physical capability: the HALCyon programme.

Alfred T, Ben-Shlomo Y, Cooper R, Hardy R, Cooper C, Deary IJ, Elliott J, Gunnell D, Harris SE, Kivimaki M, Kumari M, Martin RM, Power C, Sayer AA, Starr JM, Kuh D, Day IN; HALCyon Study Team.

Age (Dordr). 2014;36(4):9673. doi: 10.1007/s11357-014-9673-9. Epub 2014 Jul 30.


Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.

Shihab HA, Gough J, Mort M, Cooper DN, Day IN, Gaunt TR.

Hum Genomics. 2014 Jun 30;8:11. doi: 10.1186/1479-7364-8-11.

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