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Page 1
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Kaiser VB, Svinti V, Prendergast JG, Chau YY, Campbell A, Patarcic I, Barroso I, Joshi PK, Hastie ND, Miljkovic A, Taylor MS; Generation Scotland; UK10K; Enroth S, Memari Y, Kolb-Kokocinski A, Wright AF, Gyllensten U, Durbin R, Rudan I, Campbell H, Polašek O, Johansson Å, Sauer S, Porteous DJ, Fraser RM, Drake C, Vitart V, Hayward C, Semple CA, Wilson JF. Kaiser VB, et al. Among authors: svinti v. Hum Mol Genet. 2015 Oct 1;24(19):5464-74. doi: 10.1093/hmg/ddv272. Epub 2015 Jul 14. Hum Mol Genet. 2015. PMID: 26173456 Free PMC article.
Exome sequencing to detect rare variants associated with general cognitive ability: a pilot study.
Luciano M, Svinti V, Campbell A, Marioni RE, Hayward C, Wright AF, Taylor MS, Porteous DJ, Thomson P, Prendergast JG, Hastie ND, Farrington SM, Scotland G, Dunlop MG, Deary IJ. Luciano M, et al. Among authors: svinti v. Twin Res Hum Genet. 2015 Apr;18(2):117-25. doi: 10.1017/thg.2015.10. Epub 2015 Mar 6. Twin Res Hum Genet. 2015. PMID: 25744449 Free article. Clinical Trial.
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS. Timofeeva MN, et al. Among authors: svinti v. Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286. Sci Rep. 2015. PMID: 26553438 Free PMC article.
Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study.
He Y, Timofeeva M, Farrington SM, Vaughan-Shaw P, Svinti V, Walker M, Zgaga L, Meng X, Li X, Spiliopoulou A, Jiang X, Hyppönen E, Kraft P, Kiel DP; SUNLIGHT consortium; Hayward C, Campbell A, Porteous D, Vucic K, Kirac I, Filipovic M, Harris SE, Deary IJ, Houlston R, Tomlinson IP, Campbell H, Theodoratou E, Dunlop MG. He Y, et al. Among authors: svinti v. BMC Med. 2018 Aug 14;16(1):142. doi: 10.1186/s12916-018-1119-2. BMC Med. 2018. PMID: 30103784 Free PMC article. Clinical Trial.
Genome-wide scan of the effect of common nsSNPs on colorectal cancer survival outcome.
Theodoratou E, Farrington SM, Timofeeva M, Din FV, Svinti V, Tenesa A, Liu T, Lindblom A, Gallinger S, Campbell H, Dunlop MG. Theodoratou E, et al. Among authors: svinti v. Br J Cancer. 2018 Oct;119(8):988-993. doi: 10.1038/s41416-018-0117-7. Epub 2018 Aug 21. Br J Cancer. 2018. PMID: 30135471 Free PMC article.
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
Law PJ, Timofeeva M, Fernandez-Rozadilla C, Broderick P, Studd J, Fernandez-Tajes J, Farrington S, Svinti V, Palles C, Orlando G, Sud A, Holroyd A, Penegar S, Theodoratou E, Vaughan-Shaw P, Campbell H, Zgaga L, Hayward C, Campbell A, Harris S, Deary IJ, Starr J, Gatcombe L, Pinna M, Briggs S, Martin L, Jaeger E, Sharma-Oates A, East J, Leedham S, Arnold R, Johnstone E, Wang H, Kerr D, Kerr R, Maughan T, Kaplan R, Al-Tassan N, Palin K, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Buchanan DD, Win AK, Hopper J, Jenkins ME, Lindor NM, Newcomb PA, Gallinger S, Duggan D, Casey G, Hoffmann P, Nöthen MM, Jöckel KH, Easton DF, Pharoah PDP, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium; Harkin A, Allan K, McQueen J, Paul J, Iveson T, Saunders M, Butterbach K, Chang-Claude J, Hoffmeister M, Brenner H, Kirac I, Matošević P, Hofer P, Brezina S, Gsur A, Cheadle JP, Aaltonen LA, Tomlinson I, Houlston RS, Dunlop MG. Law PJ, et al. Among authors: svinti v. Nat Commun. 2019 May 14;10(1):2154. doi: 10.1038/s41467-019-09775-w. Nat Commun. 2019. PMID: 31089142 Free PMC article.
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, FitzPatrick DR. Thormann A, et al. Among authors: svinti v. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3. Nat Commun. 2019. PMID: 31147538 Free PMC article.
A Comprehensive Study of the Effect on Colorectal Cancer Survival of Common Germline Genetic Variation Previously Linked with Cancer Prognosis.
He Y, Timofeeva M, Li X, Din FVN, Blackmur JP, Vaughan-Shaw P, Svinti V, Farrington SM, Campbell H, Dunlop MG, Theodoratou E. He Y, et al. Among authors: svinti v. Cancer Epidemiol Biomarkers Prev. 2019 Nov;28(11):1944-1946. doi: 10.1158/1055-9965.EPI-19-0596. Epub 2019 Sep 5. Cancer Epidemiol Biomarkers Prev. 2019. PMID: 31488414 Free PMC article.
24 results