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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: cario h. 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.
LNK mutations and myeloproliferative disorders.
McMullin MF, Cario H. McMullin MF, et al. Among authors: cario h. Am J Hematol. 2016 Feb;91(2):248-51. doi: 10.1002/ajh.24259. Am J Hematol. 2016. PMID: 26660394 Free article. Review.
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: cario h. 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.
Erythrocytosis associated with a novel missense mutation in the BPGM gene.
Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ; WGS Consortium; Ratcliffe PJ, Robbins PA, McMullin MF. Petousi N, et al. Among authors: cario h. Haematologica. 2014 Oct;99(10):e201-4. doi: 10.3324/haematol.2014.109306. Epub 2014 Jul 11. Haematologica. 2014. PMID: 25015942 Free PMC article. No abstract available.
Outcomes of pregnancy in patients with congenital erythrocytosis.
McMullin MF, Bento C, Rossi C, Rainey MG, Girodon F, Cario H. McMullin MF, et al. Among authors: cario h. Br J Haematol. 2015 Aug;170(4):586-8. doi: 10.1111/bjh.13313. Epub 2015 Mar 2. Br J Haematol. 2015. PMID: 25732921 Free article. No abstract available.
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