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Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity.
Long E, Yin J, Funderburk KM, Xu M, Feng J, Kane A, Zhang T, Myers T, Golden A, Thakur R, Kong H, Jessop L, Kim EY, Jones K, Chari R, Machiela MJ, Yu K; Melanoma Meta-Analysis Consortium; Iles MM, Landi MT, Law MH, Chanock SJ, Brown KM, Choi J. Long E, et al. Among authors: machiela mj. Am J Hum Genet. 2022 Dec 1;109(12):2210-2229. doi: 10.1016/j.ajhg.2022.11.006. Epub 2022 Nov 23. Am J Hum Genet. 2022. PMID: 36423637 Free PMC article.
Clonal hematopoiesis is associated with risk of severe Covid-19.
Bolton KL, Koh Y, Foote MB, Im H, Jee J, Sun CH, Safonov A, Ptashkin R, Moon JH, Lee JY, Jung J, Kang CK, Song KH, Choe PG, Park WB, Kim HB, Oh MD, Song H, Kim S, Patel M, Derkach A, Gedvilaite E, Tkachuk KA, Braunstein LZ, Gao T, Papaemmanuil E, Babady NE, Pessin MS, Kamboj M, Diaz LA, Ladanyi M, Rauh MJ, Natarajan P, Machiela MJ, Awadalla P, Joseph V, Offit K, Norton L, Berger MF, Levine RL, Kim ES, Kim NJ, Zehir A. Bolton KL, et al. Among authors: machiela mj. medRxiv [Preprint]. 2020 Nov 27:2020.11.25.20233163. doi: 10.1101/2020.11.25.20233163. medRxiv. 2020. Update in: Nat Commun. 2021 Oct 13;12(1):5975. doi: 10.1038/s41467-021-26138-6 PMID: 33269365 Free PMC article. Updated. Preprint.
Chromosome 8q24 markers: risk of early-onset and familial prostate cancer.
Beebe-Dimmer JL, Levin AM, Ray AM, Zuhlke KA, Machiela MJ, Halstead-Nussloch BA, Johnson GR, Cooney KA, Douglas JA. Beebe-Dimmer JL, et al. Among authors: machiela mj. Int J Cancer. 2008 Jun 15;122(12):2876-9. doi: 10.1002/ijc.23471. Int J Cancer. 2008. PMID: 18360876 Free PMC article.
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Neale B, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL; COVID-19 Host Genetics Initiative; Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. Among authors: machiela mj. medRxiv [Preprint]. 2020 Nov 16:2020.11.12.20230821. doi: 10.1101/2020.11.12.20230821. medRxiv. 2020. PMID: 33236019 Free PMC article. Preprint.
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Natarajan P, Zekavat S, Lin SH, Bick A, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello J, Pampana A, Loh PR, Kohli P, McCarroll S, Neale B, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Terao C, Zhao H, Ebert B, Machiela M, Genovese G. Natarajan P, et al. Res Sq [Preprint]. 2020 Nov 16:rs.3.rs-100817. doi: 10.21203/rs.3.rs-100817/v1. Res Sq. 2020. Update in: Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0 PMID: 33236004 Free PMC article. Updated. Preprint.
One thousand genomes imputation in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium aggressive prostate cancer genome-wide association study.
Machiela MJ, Chen C, Liang L, Diver WR, Stevens VL, Tsilidis KK, Haiman CA, Chanock SJ, Hunter DJ, Kraft P; National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Machiela MJ, et al. Prostate. 2013 May;73(7):677-89. doi: 10.1002/pros.22608. Epub 2012 Dec 19. Prostate. 2013. PMID: 23255287 Free PMC article.
Detectable clonal mosaicism in the human genome.
Machiela MJ, Chanock SJ. Machiela MJ, et al. Semin Hematol. 2013 Oct;50(4):348-59. doi: 10.1053/j.seminhematol.2013.09.001. Semin Hematol. 2013. PMID: 24246702 Free PMC article. Review.
138 results