Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

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Mitochondrial DNA mutations and human disease

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Mitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies

Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.002 · Cited by 633 · see citing works

DNA analysis of an early modern human from Tianyuan Cave, China

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Genomic evidence for the Pleistocene and recent population history of Native Americans

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Mitochondrial DNA mutations in human colonic crypt stem cells

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The Prevotella copri Complex Comprises Four Distinct Clades Underrepresented in Westernized Populations

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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., Boissiere, A., Campos, Y., Rivera, H., de la Aleja, J. G., Carroccia, R., et al. (2008) · Brain · doi:10.1093/brain/awm298 · Cited by 520 · see citing works

Genetic Discontinuity Between Local Hunter-Gatherers and Central Europe’s First Farmers

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Parallel palaeogenomic transects reveal complex genetic history of early European farmers

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High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain

Lin, M. T. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.2.133 · Cited by 366 · see citing works

Neanderthals in central Asia and Siberia

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The genetic prehistory of the New World Arctic

Raghavan, M., DeGiorgio, M., Albrechtsen, A., Moltke, I., Skoglund, P., Korneliussen, T. S., Grønnow, B., Appelt, M., Gulløv, H. C., Friesen, T. M., et al. (2014) · Science · doi:10.1126/science.1255832 · Cited by 329 · see citing works

Genotyping of 73 UM‐SCC head and neck squamous cell carcinoma cell lines

Brenner, J. C., Graham, M. P., Kumar, B., Saunders, L. M., Kupfer, R., Lyons, R. H., Bradford, C. R., & Carey, T. E. (2010) · Head & Neck · doi:10.1002/hed.21198 · Cited by 304 · see citing works

Mitochondrial DNA variation and cancer

Kopinski, P. K., Singh, L. N., Zhang, S., Lott, M. T., & Wallace, D. C. (2021) · Nature reviews. Cancer · doi:10.1038/s41568-021-00358-w · Cited by 301 · see citing works

Patterns of coding variation in the complete exomes of three Neandertals

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STR allele sequence variation: Current knowledge and future issues

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Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity

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In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

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mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud

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Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis

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Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges

Spelbrink, J. N. (2010) · IUBMB Life · doi:10.1002/iub.282 · Cited by 171 · see citing works

Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis

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Using genetic evidence to evaluate four palaeoanthropological hypotheses for the timing of Neanderthal and modern human origins

Endicott, P., Ho, S. Y. W., & Stringer, C. (2010) · Journal of Human Evolution · doi:10.1016/j.jhevol.2010.04.005 · Cited by 165 · see citing works

Ribosomal DNA copy number is coupled with gene expression variation and mitochondrial abundance in humans

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Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians

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How mitochondria record the effects of UV exposure and oxidative stress using human skin as a model tissue

Birch-Machin, M. A., & Swalwell, H. (2010) · Mutagenesis · doi:10.1093/mutage/gep061 · Cited by 159 · see citing works

Ancestry analysis in the 11-M Madrid bomb attack investigation

Phillips, C., Prieto, L., Fondevila, M., Salas, A., Gómez-Tato, A., Álvarez-Dios, J., Alonso, A., Blanco-Verea, A., Brión, M., Montesino, M., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006583 · Cited by 149 · see citing works

Expression of catalytic mutants of the mtDNA helicase twinkle and polymerase POLG causes distinct replication stalling phenotypes

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Analysis of European mtDNAs for Recombination

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Origins and genetic legacies of the Caribbean Taino

Schroeder, H., Sikora, M., Gopalakrishnan, S., Cassidy, L. M., Maisano Delser, P., Sandoval Velasco, M., Schraiber, J. G., Rasmussen, S., Homburger, J. R., Ávila-Arcos, M. C., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1716839115 · Cited by 126 · see citing works

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element

Jemt, E., Persson, Ö., Shi, Y., Mehmedovic, M., Uhler, J. P., Dávila López, M., Freyer, C., Gustafsson, C. M., Samuelsson, T., & Falkenberg, M. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv804 · Cited by 121 · see citing works

Next generation database search algorithm for forensic mitogenome analyses

Huber, N., Parson, W., & Dür, A. (2018) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2018.09.001 · Cited by 108 · see citing works

Complete mitochondrial DNA diversity in Iranians

Derenko, M., Malyarchuk, B., Bahmanimehr, A., Denisova, G., Perkova, M., Farjadian, S., & Yepiskoposyan, L. (2013) · PLoS ONE · doi:10.1371/journal.pone.0080673 · Cited by 96 · see citing works

Nuclear DNA from two early Neandertals reveals 80,000 years of genetic continuity in Europe

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Successful enrichment and recovery of whole mitochondrial genomes from ancient human dental calculus

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A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic mutation for maternally inherited type 2 diabetes.

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Molecular Exploration of the First-Century Tomb of the Shroud in Akeldama, Jerusalem

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Shipwrecks and founder effects: Divergent demographic histories reflected in Caribbean mtDNA

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Hallstatt miners consumed blue cheese and beer during the Iron Age and retained a non-Westernized gut microbiome until the Baroque period

Maixner, F., Sarhan, M. S., Huang, K. D., Tett, A., Schoenafinger, A., Zingale, S., Blanco-Míguez, A., Manghi, P., Cemper-Kiesslich, J., Rosendahl, W., et al. (2021) · Current Biology · doi:10.1016/j.cub.2021.09.031 · Cited by 62 · see citing works

Complete mitochondrial DNA genome sequences from the first New Zealanders

Knapp, M., Horsburgh, K. A., Prost, S., Stanton, J.-A., Buckley, H. R., Walter, R. K., & Matisoo-Smith, E. A. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1209896109 · Cited by 61 · see citing works

Skeletal muscle gene expression profiling in mitochondrial disorders

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Leukocyte Mitochondrial DNA Alteration in Systemic Lupus Erythematosus and Its Relevance to the Susceptibility to Lupus Nephritis

Lee, H.-T., Lin, C.-S., Chen, W.-S., Liao, H.-T., Tsai, C.-Y., & Wei, Y.-H. (2012) · International Journal of Molecular Sciences · doi:10.3390/ijms13078853 · Cited by 49 · see citing works

Gene therapy for mitochondrial diseases: Leber hereditary optic neuropathy as the first candidate for a clinical trial.

Cwerman-Thibault, H., Augustin, S., Ellouze, S., Sahel, J.-A., & Corral-Debrinski, M. (2014) · Comptes Rendus. Biologies · doi:10.1016/j.crvi.2013.11.011 · Cited by 49 · see citing works

Genetic Ancestry of Rapanui before and after European Contact

Fehren-Schmitz, L., Jarman, C. L., Harkins, K. M., Kayser, M., Popp, B. N., & Skoglund, P. (2017) · Current Biology · doi:10.1016/j.cub.2017.09.029 · Cited by 47 · see citing works

Massively parallel pyrosequencing of the mitochondrial genome with the 454 methodology in forensic genetics

Mikkelsen, M., Frank-Hansen, R., Hansen, A. J., & Morling, N. (2014) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2014.03.014 · Cited by 43 · see citing works

Mitochondrial DNA Variant Discovery in Normal-Tension Glaucoma Patients by Next-Generation Sequencing

Jeoung, J. W., Seong, M.-W., Park, S. S., Kim, D. M., Kim, S. H., & Park, K. H. (2014) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.13-12968 · Cited by 41 · see citing works

Ancient DNA analysis of a nineteenth century tobacco pipe from a Maryland slave quarter

Schablitsky, J. M., Witt, K. E., Madrigal, J. R., Ellegaard, M. R., Malhi, R. S., & Schroeder, H. (2019) · Journal of Archaeological Science · doi:10.1016/j.jas.2019.02.006 · Cited by 27 · see citing works

Quality of cell products: authenticity, identity, genomic stability and status of differentiation

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Maternal Genetic History of Southern East Asians over the Past 12,000 Years

Liu, Y., Wang, T., Wu, X., Fan, X., Wang, W., Xie, G., Li, Z., Yang, Q., Cao, P., Yang, R., et al. (2021) · Journal of Genetics and Genomics · doi:10.1016/j.jgg.2021.06.002 · Cited by 21 · see citing works

Resolving a 150-year-old paternity case in Mormon history using DTC autosomal DNA testing of distant relatives.

Perego, U. A., Bodner, M., Raveane, A., Woodward, S. R., Montinaro, F., Parson, W., & Achilli, A. (2019) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2019.05.007 · Cited by 16 · see citing works

The identification of the Romanovs: Can we (finally) put the controversies to rest?

Coble, M. D. (2011) · Investigative Genetics · doi:10.1186/2041-2223-2-20 · Cited by 13 · see citing works

Correction: Complete Mitochondrial Genome Sequencing Reveals Novel Haplotypes in a Polynesian Population

Benton, M., Macartney-Coxson, D., Eccles, D., Griffiths, L., Chambers, G., & Lea, R. (2012) · PLoS ONE · doi:10.1371/annotation/08aca5be-f760-4595-8562-faf009899c46 · Cited by 13 · see citing works

Attempts to understand the mechanisms of mitochondrial diseases: the reverse genetics of mouse models for mitochondrial disease

Ishikawa, K., & Nakada, K. (2021) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2020.129835 · Cited by 9 · see citing works

Mitochondrial Function and Neurodegenerative Diseases

Wilkins, H. M., Weidling, I., Koppel, S., Wang, X., von Schulze, A., & Swerdlow, R. H. (2018) · The Molecular and Cellular Basis of Neurodegenerative Diseases · doi:10.1016/b978-0-12-811304-2.00013-4 · Cited by 2 · see citing works

<tt>SAFARI</tt> : pangenome alignment of ancient DNA using purine/pyrimidine encodings

Rubin, J., van Waaij, J., Kraft, L., Sirén, J., Sackett, P. W., & Renaud, G. (2025) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqaf170 · Cited by 1 · see citing works