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Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Caporaso N, Greene MH, Goldin LR, Stewart DR. Pathak A, et al. Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5. Hum Genet. 2015. PMID: 25939664 Free PMC article. Clinical Trial.
Inflated expectations: Rare-variant association analysis using public controls.
Kim J, Karyadi DM, Hartley SW, Zhu B, Wang M, Wu D, Song L, Armstrong GT, Bhatia S, Robison LL, Yasui Y, Carter B, Sampson JN, Freedman ND, Goldstein AM, Mirabello L, Chanock SJ, Morton LM, Savage SA, Stewart DR. Kim J, et al. Among authors: mirabello l. PLoS One. 2023 Jan 25;18(1):e0280951. doi: 10.1371/journal.pone.0280951. eCollection 2023. PLoS One. 2023. PMID: 36696392 Free PMC article.
Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19.
Banday AR, Stanifer ML, Florez-Vargas O, Onabajo OO, Zahoor MA, Papenberg BW, Ring TJ, Lee CH, Andreakos E, Arons E, Barsh G, Biesecker LG, Boyle DL, Burnett-Hartman A, Carrington M, Chang E, Choe PG, Chrisholm RL, Dalgard C, Edberg J, Erdmann N, Feigelson HS, Firestein GS, Gehring AJ, Ho M, Holland S, Hutchinson AA, Im H, Ison MG, Kim HB, Kreitman RJ, Korf BR, Mirabello L, Pacheco JA, Peluso MJ, Rader DJ, Redden DT, Ritchie MD, Rosenbloom B, Sant Anna HP, Savage S, Siouti E, Triantafyllia V, Vargas JM, Verma A, Vij V, Wesemann DR, Yeager M, Yu X, Zhang Y, Boulant S, Chanock SJ, Feld JJ, Prokunina-Olsson L. Banday AR, et al. Among authors: mirabello l. medRxiv [Preprint]. 2021 Jul 13:2021.07.09.21260221. doi: 10.1101/2021.07.09.21260221. medRxiv. 2021. Update in: Nat Genet. 2022 Aug;54(8):1103-1116. doi: 10.1038/s41588-022-01113-z PMID: 34282422 Free PMC article. Updated. Preprint.
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA. Burris AM, et al. Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19. Pediatr Neurol. 2016. PMID: 26810774 Free PMC article.
Human papillomavirus DNA methylation as a potential biomarker for cervical cancer.
Clarke MA, Wentzensen N, Mirabello L, Ghosh A, Wacholder S, Harari A, Lorincz A, Schiffman M, Burk RD. Clarke MA, et al. Among authors: mirabello l. Cancer Epidemiol Biomarkers Prev. 2012 Dec;21(12):2125-37. doi: 10.1158/1055-9965.EPI-12-0905. Epub 2012 Oct 3. Cancer Epidemiol Biomarkers Prev. 2012. PMID: 23035178 Free PMC article. Review.
Methylation of HPV18, HPV31, and HPV45 genomes and cervical intraepithelial neoplasia grade 3.
Wentzensen N, Sun C, Ghosh A, Kinney W, Mirabello L, Wacholder S, Shaber R, LaMere B, Clarke M, Lorincz AT, Castle PE, Schiffman M, Burk RD. Wentzensen N, et al. Among authors: mirabello l. J Natl Cancer Inst. 2012 Nov 21;104(22):1738-49. doi: 10.1093/jnci/djs425. Epub 2012 Oct 23. J Natl Cancer Inst. 2012. PMID: 23093560 Free PMC article.
166 results