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Page 1
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Among authors: robbins pa. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology.
Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, Leedham DL, Liu C, Maxwell PH, McMullin MF, McNamara CJ, Percy MJ, Pugh CW, Ratcliffe PJ, Talbot NP, Treacy M, Robbins PA. Smith TG, et al. Among authors: robbins pa. PLoS Med. 2006 Jul;3(7):e290. doi: 10.1371/journal.pmed.0030290. PLoS Med. 2006. PMID: 16768548 Free PMC article.
Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.
Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, Leedham DL, Liu C, Maxwell PH, McMullin MF, McNamara CJ, Percy MJ, Pugh CW, Ratcliffe PJ, Talbot NP, Treacy M, Robbins PA. Smith TG, et al. Among authors: robbins pa. Adv Exp Med Biol. 2008;605:51-6. doi: 10.1007/978-0-387-73693-8_9. Adv Exp Med Biol. 2008. PMID: 18085246
The human side of hypoxia-inducible factor.
Smith TG, Robbins PA, Ratcliffe PJ. Smith TG, et al. Among authors: robbins pa. Br J Haematol. 2008 May;141(3):325-34. doi: 10.1111/j.1365-2141.2008.07029.x. Br J Haematol. 2008. PMID: 18410568 Free PMC article. Review.
Regulation of growth differentiation factor 15 expression by intracellular iron.
Lakhal S, Talbot NP, Crosby A, Stoepker C, Townsend AR, Robbins PA, Pugh CW, Ratcliffe PJ, Mole DR. Lakhal S, et al. Among authors: robbins pa. Blood. 2009 Feb 12;113(7):1555-63. doi: 10.1182/blood-2008-07-170431. Epub 2008 Dec 1. Blood. 2009. PMID: 19047680 Free article. Clinical Trial.
Regulation of human metabolism by hypoxia-inducible factor.
Formenti F, Constantin-Teodosiu D, Emmanuel Y, Cheeseman J, Dorrington KL, Edwards LM, Humphreys SM, Lappin TR, McMullin MF, McNamara CJ, Mills W, Murphy JA, O'Connor DF, Percy MJ, Ratcliffe PJ, Smith TG, Treacy M, Frayn KN, Greenhaff PL, Karpe F, Clarke K, Robbins PA. Formenti F, et al. Among authors: robbins pa. Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12722-7. doi: 10.1073/pnas.1002339107. Epub 2010 Jun 28. Proc Natl Acad Sci U S A. 2010. PMID: 20616028 Free PMC article.
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.
Formenti F, Beer PA, Croft QP, Dorrington KL, Gale DP, Lappin TR, Lucas GS, Maher ER, Maxwell PH, McMullin MF, O'Connor DF, Percy MJ, Pugh CW, Ratcliffe PJ, Smith TG, Talbot NP, Robbins PA. Formenti F, et al. Among authors: robbins pa. FASEB J. 2011 Jun;25(6):2001-11. doi: 10.1096/fj.10-177378. Epub 2011 Mar 9. FASEB J. 2011. PMID: 21389259 Free PMC article.
Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia.
Petousi N, Croft QP, Cavalleri GL, Cheng HY, Formenti F, Ishida K, Lunn D, McCormack M, Shianna KV, Talbot NP, Ratcliffe PJ, Robbins PA. Petousi N, et al. Among authors: robbins pa. J Appl Physiol (1985). 2014 Apr 1;116(7):893-904. doi: 10.1152/japplphysiol.00535.2013. Epub 2013 Sep 12. J Appl Physiol (1985). 2014. PMID: 24030663 Free PMC article.
245 results