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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.
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.
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.
Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, Waghorn K, Zoi K, Ross FM, Reiter A, Hochhaus A, Drexler HG, Duncombe A, Cervantes F, Oscier D, Boultwood J, Grand FH, Cross NC. Ernst T, et al. Among authors: score j. Nat Genet. 2010 Aug;42(8):722-6. doi: 10.1038/ng.621. Epub 2010 Jul 4. Nat Genet. 2010. PMID: 20601953
41 results