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The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors.
Kaneva K, O'Halloran K, Triska P, Liu X, Merkurjev D, Bootwalla M, Ryutov A, Cotter JA, Ostrow D, Biegel JA, Gai X. Kaneva K, et al. Among authors: merkurjev d. Neurooncol Adv. 2021 Jun 2;3(1):vdab074. doi: 10.1093/noajnl/vdab074. eCollection 2021 Jan-Dec. Neurooncol Adv. 2021. PMID: 34337412 Free PMC article.
Mitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma.
Kaneva K, Schurr TG, Tatarinova TV, Buckley J, Merkurjev D, Triska P, Liu X, Done J, Maglinte DT, Deapen D, Hwang A, Schiffman JD, Triche TJ, Biegel JA, Gai X. Kaneva K, et al. Among authors: merkurjev d. Mitochondrion. 2022 Nov;67:6-14. doi: 10.1016/j.mito.2022.09.002. Epub 2022 Sep 15. Mitochondrion. 2022. PMID: 36115539 Free PMC article.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. McCormick EM, et al. Among authors: merkurjev d. Hum Mutat. 2020 Dec;41(12):2028-2057. doi: 10.1002/humu.24107. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 32906214 Free PMC article.
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
Pinsach-Abuin ML, Del Olmo B, Pérez-Agustin A, Mates J, Allegue C, Iglesias A, Ma Q, Merkurjev D, Konovalov S, Zhang J, Sheikh F, Telenti A, Brugada J, Brugada R, Gymrek M, di Iulio J, Garcia-Bassets I, Pagans S. Pinsach-Abuin ML, et al. Among authors: merkurjev d. Cell Rep Med. 2021 Apr 20;2(4):100250. doi: 10.1016/j.xcrm.2021.100250. eCollection 2021 Apr 20. Cell Rep Med. 2021. PMID: 33948580 Free PMC article.
27 results