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Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagatti A, Wainscoat JS, Hellstrom-Lindberg E, Gambacorti-Passerini C, Godfrey AL, Rapado I, Cvejic A, Rance R, McGee C, Ellis P, Mudie LJ, Stephens PJ, McLaren S, Massie CE, Tarpey PS, Varela I, Nik-Zainal S, Davies HR, Shlien A, Jones D, Raine K, Hinton J, Butler AP, Teague JW, Baxter EJ, Score J, Galli A, Della Porta MG, Travaglino E, Groves M, Tauro S, Munshi NC, Anderson KC, El-Naggar A, Fischer A, Mustonen V, Warren AJ, Cross NC, Green AR, Futreal PA, Stratton MR, Campbell PJ; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Papaemmanuil E, et al. Among authors: score j. N Engl J Med. 2011 Oct 13;365(15):1384-95. doi: 10.1056/NEJMoa1103283. Epub 2011 Sep 26. N Engl J Med. 2011. PMID: 21995386 Free PMC article.
PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.
Chase A, Pellagatti A, Singh S, Score J, Tapper WJ, Lin F, Hoade Y, Bryant C, Trim N, Yip BH, Zoi K, Rasi C, Forsberg LA, Dumanski JP, Boultwood J, Cross NCP. Chase A, et al. Among authors: score j. Leukemia. 2019 May;33(5):1184-1194. doi: 10.1038/s41375-018-0340-5. Epub 2018 Dec 20. Leukemia. 2019. PMID: 30573780 Free PMC article.
Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms.
Ernst T, Chase A, Zoi K, Waghorn K, Hidalgo-Curtis C, Score J, Jones A, Grand F, Reiter A, Hochhaus A, Cross NC. Ernst T, et al. Among authors: score j. Haematologica. 2010 Sep;95(9):1473-80. doi: 10.3324/haematol.2010.021808. Epub 2010 Apr 26. Haematologica. 2010. PMID: 20421268 Free PMC article.
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer.
Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, Sandgren J, Diaz de Ståhl T, Zaghlool A, Giedraitis V, Lannfelt L, Score J, Cross NC, Absher D, Janson ET, Lindgren CM, Morris AP, Ingelsson E, Lind L, Dumanski JP. Forsberg LA, et al. Among authors: score j. Nat Genet. 2014 Jun;46(6):624-8. doi: 10.1038/ng.2966. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777449 Free PMC article.
Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.
Chase A, Leung W, Tapper W, Jones AV, Knoops L, Rasi C, Forsberg LA, Guglielmelli P, Zoi K, Hall V, Chiecchio L, Eder-Azanza L, Bryant C, Lannfelt L, Docherty L, White HE, Score J, Mackay DJ, Vannucchi AM, Dumanski JP, Cross NC. Chase A, et al. Among authors: score j. Leukemia. 2015 Oct;29(10):2069-74. doi: 10.1038/leu.2015.130. Epub 2015 May 20. Leukemia. 2015. PMID: 26114957 Free PMC article.
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