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Page 1
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
Lee OW, Rodrigues C, Lin SH, Luo W, Jones K, Brown DW, Zhou W, Karlins E, Khan SM, Baulande S, Raynal V, Surdez D, Reynaud S, Rubio RA, Zaidi S, Grossetête S, Ballet S, Lapouble E, Laurence V, Pierron G, Gaspar N, Corradini N, Marec-Bérard P, Rothman N, Dagnall CL, Burdett L, Manning M, Wyatt K, Yeager M, Chari R, Leisenring WM, Kulozik AE, Kriebel J, Meitinger T, Strauch K, Kirchner T, Dirksen U, Mirabello L, Tucker MA, Tirode F, Armstrong GT, Bhatia S, Robison LL, Yasui Y, Romero-Pérez L, Hartmann W, Metzler M, Diver WR, Lori A, Freedman ND, Hoover RN, Morton LM, Chanock SJ, Grünewald TGP, Delattre O, Machiela MJ. Lee OW, et al. Among authors: jones k. Am J Hum Genet. 2023 Mar 2;110(3):427-441. doi: 10.1016/j.ajhg.2023.01.017. Epub 2023 Feb 13. Am J Hum Genet. 2023. PMID: 36787739 Free PMC article.
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.
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.
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM. McReynolds LJ, et al. Among authors: jones k. Blood. 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. Blood. 2022. PMID: 35776903 Free PMC article.
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: jones k. 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.
Oral microbiome and risk of incident head and neck cancer: A nested case-control study.
Wu Z, Han Y, Wan Y, Hua X, Chill SS, Teshome K, Zhou W, Liu J, Wu D, Hutchinson A, Jones K, Dagnall CL, Hicks BD, Liao L, Hallen-Adams H, Shi J, Abnet CC, Sinha R, Chaturvedi A, Vogtmann E. Wu Z, et al. Among authors: jones k. Oral Oncol. 2023 Feb;137:106305. doi: 10.1016/j.oraloncology.2022.106305. Epub 2023 Jan 5. Oral Oncol. 2023. PMID: 36610232 Free PMC article.
GWAS Explorer: an open-source tool to explore, visualize, and access GWAS summary statistics in the PLCO Atlas.
Machiela MJ, Huang WY, Wong W, Berndt SI, Sampson J, De Almeida J, Abubakar M, Hislop J, Chen KL, Dagnall C, Diaz-Mayoral N, Ferrell M, Furr M, Gonzalez A, Hicks B, Hubbard AK, Hutchinson A, Jiang K, Jones K, Liu J, Loftfield E, Loukissas J, Mabie J, Merkle S, Miller E, Minasian LM, Nordgren E, Park B, Pinsky P, Riley T, Sandoval L, Saxena N, Vogt A, Wang J, Williams C, Wright P, Yeager M, Zhu B, Zhu C, Chanock SJ, Garcia-Closas M, Freedman ND. Machiela MJ, et al. Among authors: jones k. Sci Data. 2023 Jan 12;10(1):25. doi: 10.1038/s41597-022-01921-2. Sci Data. 2023. PMID: 36635305 Free PMC article.
Evaluation of alcohol-free mouthwash for studies of the oral microbiome.
Yano Y, Vogtmann E, Shreves AH, Weinstein SJ, Black A, Diaz-Mayoral N, Wan Y, Zhou W, Hua X, Dagnall CL, Hutchinson A, Jones K, Hicks BD, Wyatt K, Brotzman M, Gerlanc N, Huang WY, Albert PS, Wentzensen N, Abnet CC. Yano Y, et al. Among authors: jones k. PLoS One. 2023 Apr 27;18(4):e0284956. doi: 10.1371/journal.pone.0284956. eCollection 2023. PLoS One. 2023. PMID: 37104300 Free PMC article.
JAK2 V617F mutation and associated chromosomal alterations in primary and secondary myelofibrosis and post-HCT outcomes.
Rafati M, Brown DW, Zhou W, Jones K, Luo W, St Martin A, Wang Y, He M, Spellman SR, Wang T, Deeg HJ, Gupta V, Lee SJ, Bolon YT, Chanock SJ, Machiela MJ, Saber W, Gadalla SM. Rafati M, et al. Among authors: jones k. Blood Adv. 2023 Dec 26;7(24):7506-7515. doi: 10.1182/bloodadvances.2023010882. Blood Adv. 2023. PMID: 38011490 Free PMC article.
Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa.
Zhou W, Fischer A, Ogwang MD, Luo W, Kerchan P, Reynolds SJ, Tenge CN, Were PA, Kuremu RT, Wekesa WN, Masalu N, Kawira E, Kinyera T, Otim I, Legason ID, Nabalende H, Ayers LW, Bhatia K, Goedert JJ, Gouveia MH, Cole N, Hicks B, Jones K, Hummel M, Schlesner M, Chagaluka G, Mutalima N, Borgstein E, Liomba GN, Kamiza S, Mkandawire N, Mitambo C, Molyneux EM, Newton R, Glaser S, Kretzmer H, Manning M, Hutchinson A, Hsing AW, Tettey Y, Adjei AA, Chanock SJ, Siebert R, Yeager M, Prokunina-Olsson L, Machiela MJ, Mbulaiteye SM. Zhou W, et al. Among authors: jones k. Nat Commun. 2023 Dec 6;14(1):8081. doi: 10.1038/s41467-023-43881-0. Nat Commun. 2023. PMID: 38057307 Free PMC article.
8,660 results