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Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Hong YS, Battle SL, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich SS, Kooperberg C, Reiner AP, Auer PL, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs R, Dugan-Perez S, Gondek LP, Guallar E, Arking DE. Hong YS, et al. Among authors: battle sl. Nat Commun. 2023 Sep 30;14(1):6113. doi: 10.1038/s41467-023-41785-7. Nat Commun. 2023. PMID: 37777527 Free PMC article.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Among authors: battle sl. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
The metabolome regulates the epigenetic landscape during naive-to-primed human embryonic stem cell transition.
Sperber H, Mathieu J, Wang Y, Ferreccio A, Hesson J, Xu Z, Fischer KA, Devi A, Detraux D, Gu H, Battle SL, Showalter M, Valensisi C, Bielas JH, Ericson NG, Margaretha L, Robitaille AM, Margineantu D, Fiehn O, Hockenbery D, Blau CA, Raftery D, Margolin AA, Hawkins RD, Moon RT, Ware CB, Ruohola-Baker H. Sperber H, et al. Among authors: battle sl. Nat Cell Biol. 2015 Dec;17(12):1523-35. doi: 10.1038/ncb3264. Epub 2015 Nov 16. Nat Cell Biol. 2015. PMID: 26571212 Free PMC article.
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data.
Battle SL, Puiu D; TOPMed mtDNA Working Group; Verlouw J, Broer L, Boerwinkle E, Taylor KD, Rotter JI, Rich SS, Grove ML, Pankratz N, Fetterman JL, Liu C, Arking DE. Battle SL, et al. NAR Genom Bioinform. 2022 May 17;4(2):lqac034. doi: 10.1093/nargab/lqac034. eCollection 2022 Jun. NAR Genom Bioinform. 2022. PMID: 35591888 Free PMC article.
13 results