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Detectable clonal mosaicism and its relationship to aging and cancer.
Nat Genet. 2012 May 6;44(6):651-8. doi: 10.1038/ng.2270.
Nat Genet. 2012.
PMID: 22561519
Free PMC article.
Characterization of large structural genetic mosaicism in human autosomes.
Machiela MJ, Zhou W, Sampson JN, Dean MC, Jacobs KB, Black A, Brinton LA, Chang IS, Chen C, Chen C, Chen K, Cook LS, Crous Bou M, De Vivo I, Doherty J, Friedenreich CM, Gaudet MM, Haiman CA, Hankinson SE, Hartge P, Henderson BE, Hong YC, Hosgood HD 3rd, Hsiung CA, Hu W, Hunter DJ, Jessop L, Kim HN, Kim YH, Kim YT, Klein R, Kraft P, Lan Q, Lin D, Liu J, Le Marchand L, Liang X, Lissowska J, Lu L, Magliocco AM, Matsuo K, Olson SH, Orlow I, Park JY, Pooler L, Prescott J, Rastogi R, Risch HA, Schumacher F, Seow A, Setiawan VW, Shen H, Sheng X, Shin MH, Shu XO, VanDen Berg D, Wang JC, Wentzensen N, Wong MP, Wu C, Wu T, Wu YL, Xia L, Yang HP, Yang PC, Zheng W, Zhou B, Abnet CC, Albanes D, Aldrich MC, Amos C, Amundadottir LT, Berndt SI, Blot WJ, Bock CH, Bracci PM, Burdett L, Buring JE, Butler MA, Carreón T, Chatterjee N, Chung CC, Cook MB, Cullen M, Davis FG, Ding T, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF Jr, Freedman ND, Fuchs CS, Gao YT, Gapstur SM, Patiño-Garcia A, Garcia-Closas M, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Greene MH, Hallmans G, Harris CC, Henriksson R, Holly EA, Hoover RN, Hu N, Hutchinson A, Jenab M, Johansen…
See abstract for full author list ➔
Machiela MJ, et al. Among authors: epstein cg.
Am J Hum Genet. 2015 Mar 5;96(3):487-97. doi: 10.1016/j.ajhg.2015.01.011.
Am J Hum Genet. 2015.
PMID: 25748358
Free PMC article.
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Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.
Machiela MJ, Zhou W, Karlins E, Sampson JN, Freedman ND, Yang Q, Hicks B, Dagnall C, Hautman C, Jacobs KB, Abnet CC, Aldrich MC, Amos C, Amundadottir LT, Arslan AA, Beane-Freeman LE, Berndt SI, Black A, Blot WJ, Bock CH, Bracci PM, Brinton LA, Bueno-de-Mesquita HB, Burdett L, Buring JE, Butler MA, Canzian F, Carreón T, Chaffee KG, Chang IS, Chatterjee N, Chen C, Chen C, Chen K, Chung CC, Cook LS, Crous Bou M, Cullen M, Davis FG, De Vivo I, Ding T, Doherty J, Duell EJ, Epstein CG, Fan JH, Figueroa JD, Fraumeni JF, Friedenreich CM, Fuchs CS, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Gaudet MM, Gaziano JM, Giles GG, Gillanders EM, Giovannucci EL, Goldin L, Goldstein AM, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Henriksson R, Holly EA, Hong YC, Hoover RN, Hsiung CA, Hu N, Hu W, Hunter DJ, Hutchinson A, Jenab M, Johansen C, Khaw KT, Kim HN, Kim YH, Kim YT, Klein AP, Klein R, Koh WP, Kolonel LN, Kooperberg C, Kraft P, Krogh V, Kurtz RC, LaCroix A, Lan Q, Landi MT, Marchand LL, Li D, Liang X, Liao LM, Lin D, Liu J, Lissowska J, Lu L, Magliocco AM, Malats N, Matsuo K, McNeill LH, McWilliams RR, Melin BS, Mirabello L, Moore L, Olson SH, Orlow I, Park JY, Patiño-Garcia …
See abstract for full author list ➔
Machiela MJ, et al. Among authors: epstein cg.
Nat Commun. 2016 Jun 13;7:11843. doi: 10.1038/ncomms11843.
Nat Commun. 2016.
PMID: 27291797
Free PMC article.
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Real-world Evidence of Diagnostic Testing and Treatment Patterns in US Patients With Breast Cancer With Implications for Treatment Biomarkers From RNA Sequencing Data.
Fernandes LE, Epstein CG, Bobe AM, Bell JSK, Stumpe MC, Salazar ME, Salahudeen AA, Pe Benito RA, McCarter C, Leibowitz BD, Kase M, Igartua C, Huether R, Hafez A, Beaubier N, Axelson MD, Pegram MD, Sammons SL, O'Shaughnessy JA, Palmer GA.
Fernandes LE, et al. Among authors: epstein cg.
Clin Breast Cancer. 2021 Aug;21(4):e340-e361. doi: 10.1016/j.clbc.2020.11.012. Epub 2020 Dec 18.
Clin Breast Cancer. 2021.
PMID: 33446413
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Assessment of Tumor Mutational Burden and Outcomes in Patients With Diverse Advanced Cancers Treated With Immunotherapy.
Aggarwal C, Ben-Shachar R, Gao Y, Hyun SW, Rivers Z, Epstein C, Kaneva K, Sangli C, Nimeiri H, Patel J.
Aggarwal C, et al.
JAMA Netw Open. 2023 May 1;6(5):e2311181. doi: 10.1001/jamanetworkopen.2023.11181.
JAMA Netw Open. 2023.
PMID: 37129893
Free PMC article.
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