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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: percy m. 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.
Clinical utility gene card for: hereditary thrombocythemia.
Hussein K, Percy M, McMullin MF, Schwarz J, Schnittger S, Porret N, Martinez-Aviles LM, Paricio BB, Giraudier S, Skoda R, Lippert E, Hermouet S, Cario H. Hussein K, et al. Among authors: percy m. Eur J Hum Genet. 2014 Feb;22(2). doi: 10.1038/ejhg.2013.117. Epub 2013 Jun 5. Eur J Hum Genet. 2014. PMID: 23736217 Free PMC article. No abstract available.
Clinical utility gene card for: familial erythrocytosis.
Hussein K, Percy M, McMullin MF. Hussein K, et al. Among authors: percy m. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 Jan 25. Eur J Hum Genet. 2012. PMID: 22274579 Free PMC article. No abstract available.
Erythropoietin receptor and hematological disease.
McMullin MF, Percy MJ. McMullin MF, et al. Among authors: percy mj. Am J Hematol. 1999 Jan;60(1):55-60. doi: 10.1002/(sici)1096-8652(199901)60:1<55::aid-ajh9>3.0.co;2-v. Am J Hematol. 1999. PMID: 9883806 Free article. Review.
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: percy mj. Adv Exp Med Biol. 2008;605:51-6. doi: 10.1007/978-0-387-73693-8_9. Adv Exp Med Biol. 2008. PMID: 18085246
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium; Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium. Bento C, et al. Among authors: percy mj, percy m. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
227 results