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Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
Grove JI, Lo PCK, Shrine N, Barwell J, Wain LV, Tobin MD, Salter AM, Borkar AN, Cuevas-Ocaña S, Bennett N, John C, Ntalla I, Jones GE, Neal CP, Thomas MG, Kuht H, Gupta P, Vemala VM, Grant A, Adewoye AB, Shenoy KT, Balakumaran LK, Hollox EJ, Hannan NRF, Aithal GP. Grove JI, et al. Among authors: tobin md. JHEP Rep. 2023 Apr 23;5(8):100764. doi: 10.1016/j.jhepr.2023.100764. eCollection 2023 Aug. JHEP Rep. 2023. PMID: 37484212 Free PMC article.
Genomic copy number variation, human health, and disease.
Wain LV, Armour JA, Tobin MD. Wain LV, et al. Among authors: tobin md. Lancet. 2009 Jul 25;374(9686):340-50. doi: 10.1016/S0140-6736(09)60249-X. Epub 2009 Jun 15. Lancet. 2009. PMID: 19535135 Free article. Review.
Copy number variation.
Wain LV, Tobin MD. Wain LV, et al. Among authors: tobin md. Methods Mol Biol. 2011;713:167-83. doi: 10.1007/978-1-60327-416-6_13. Methods Mol Biol. 2011. PMID: 21153619
Genome-wide association studies in lung disease.
Soler Artigas M, Wain LV, Tobin MD. Soler Artigas M, et al. Among authors: tobin md. Thorax. 2012 Mar;67(3):271-3, 280. doi: 10.1136/thoraxjnl-2011-200724. Epub 2011 Aug 19. Thorax. 2012. PMID: 21856699 Review.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium; Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Ruark E, et al. Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16. Nature. 2013. PMID: 23242139 Free PMC article.
Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma.
Wain LV, Odenthal-Hesse L, Abujaber R, Sayers I, Beardsmore C, Gaillard EA, Chappell S, Dogaru CM, McKeever T, Guetta-Baranes T, Kalsheker N, Kuehni CE, Hall IP, Tobin MD, Hollox EJ. Wain LV, et al. Among authors: tobin md. PLoS One. 2014 Jan 3;9(1):e84192. doi: 10.1371/journal.pone.0084192. eCollection 2014. PLoS One. 2014. PMID: 24404154 Free PMC article.
Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.
Wain LV, Sayers I, Soler Artigas M, Portelli MA, Zeggini E, Obeidat M, Sin DD, Bossé Y, Nickle D, Brandsma CA, Malarstig A, Vangjeli C, Jelinsky SA, John S, Kilty I, McKeever T, Shrine NR, Cook JP, Patel S, Spector TD, Hollox EJ, Hall IP, Tobin MD. Wain LV, et al. Among authors: tobin md. PLoS Genet. 2014 May 1;10(5):e1004314. doi: 10.1371/journal.pgen.1004314. eCollection 2014 May. PLoS Genet. 2014. PMID: 24786987 Free PMC article.
228 results