The DOI matches its Crossref record; 90 of the 90 references it cites were found in a registry or an index.
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
Open accessAbstract
Human mitochondrial DNA is widely used as tool in many fields including evolutionary anthropology and population history, medical genetics, genetic genealogy, and forensic science. Many applications require detailed knowledge about the phylogenetic relationship of mtDNA variants. Although the phylogenetic resolution of global human mtDNA diversity has greatly improved as a result of increasing sequencing efforts of complete mtDNA genomes, an updated overall mtDNA tree is currently not available. In order to facilitate a better use of known mtDNA variation, we have constructed an updated comprehensive phylogeny of global human mtDNA variation, based on both coding- and control region mutations. This complete mtDNA tree includes previously published as well as newly identified haplogroups, is easily navigable, will be continuously and regularly updated in the future, and is online available at http://www.phylotree.org.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“the most recent revision of mtDNA haplogroups [87] clearly show an increase in the frequency of haplogroup B from Papua New Guinea and nearby islands at 60-40%, to over 80% in Fiji, and +90% among Polynesians (Figure 2).”
From Dispersal, Isolation, and Interaction in the Islands of Polynesia: A Critical Review of Archaeological and Genetic Evidence (2017) · cites this paper as [87]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Across all 160 Native Hawaiians, we identified 14 mtSNPs to have a minor allele frequency >1% (Table 1), of which 6 polymorphisms have not been previously identified by PhyloTree [46] to be a haplogroup identifying marker.”
From Population Genetic Structure and Origins of Native Hawaiians in the Multiethnic Cohort Study (2012) · cites this paper as [46]
The cited source says what the claim attributes to it.
In the citing paper
“MtDNA haplogroup assignment was performed on positions with a read depth > 1 (coverage filtered) using HaploGrep 2.0 (Kloss‐Brandstatter et al., 2011), followed by manual confirmation of haplogroup‐defining mutations provided in Phylotree mtDNA tree Build 16 (van Oven and Kayser, 2009).”
From Successful enrichment and recovery of whole mitochondrial genomes from ancient human dental calculus (2016) · cites this paper as van Oven and Kayser, 2009
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“It belongs to haplogroup HV18 [48], a rare lineage (five samples in EMPOP v4/R12, https://empop.online/)[49,50] that has been defined for the first time by analyzing modern Iranians [51] and that is nowadays present in Western Europe and the Middle East.”
From Resolving a 150-year-old paternity case in Mormon history using DTC autosomal DNA testing of distant relatives. (2019) · cites this paper as [48]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Both Gill et al. [7] and Ivanov et al. [13] evaluated the evidence in their investigations using a Bayesian approach to evaluate the weight of the evidence under two opposing hypotheses (likelihood ratio): (1) These are the remains of the Romanovs, and (2) these are not the remains of the Romanovs.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
Experimental — accuracy not yet measured
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Nagai et al. [22] erroneously reported that Ivanov et al. [13] had observed a transition at nucleotide position 320 (C-T).”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Although two sets of skeletal remains belonging to Alexei and one of his sisters were missing from the mass grave, the forensic results were very conclusive in identifying the Romanov family and their servants.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Ivanov et al. [13] gave clear and convincing evidence that the 16,169 heteroplasmy found in the tsar was in fact authentic, since Georgii had the same point heteroplasmy, although at a ratio different from that of the tsar.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“The initial work from 1993 to 1996 [7,13] was a watershed moment for DNA testing, and despite the feeble attempts to discredit these studies with contaminated data, the results have withstood the test of time throughout scientific advances.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“The Anzick-1 D4h3a does not carry any of the polymorphisms that define the several sub-groups of the haplogroup13 and is thus placed at the root of D4h3a.”
From The genome of a Late Pleistocene human from a Clovis burial site in western Montana (2014) · cites this paper as [13]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,740
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., & Howell, N. (1999) · Nature Genetics · doi:10.1038/13779 · Cited by 3,337
Mitochondrial DNA mutations in human disease
Taylor, R. W., & Turnbull, D. M. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1606 · Cited by 1,922
Natural selection shaped regional mtDNA variation in humans
Mishmar, D., Ruiz‐Pesini, E., Golik, P., Macaulay, V. A., Clark, A. G., Hosseini, S., Brandon, M., Easley, K. A., Chen, E., Brown, M. D., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0136972100 · Cited by 1,040
The human Y chromosome: an evolutionary marker comes of age
Jobling, M. A., & Tyler‐Smith, C. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1124 · Cited by 986
New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup treePreprint
Karafet, T. M., Mendez, F. L., Meilerman, M. B., Underhill, P. A., Zegura, S. L., & Hammer, M. F. (2008) · Genome Research · doi:10.1101/gr.7172008 · Cited by 854
Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes
Macaulay, V., Hill, C., Achilli, A., Rengo, C., Clarke, D., Meehan, W., Blackburn, J., Semino, O., Scozzari, R., Cruciani, F., et al. (2005) · Science · doi:10.1126/science.1109792 · Cited by 766
Asian affinities and continental radiation of the four founding Native American mtDNAs.
Torroni, A., Schurr, T. G., Cabell, M. F., Brown, M. D., Neel, J. V., Larsen, M., Smith, D. G., Vullo, C., & Wallace, D. C. (1993) · PubMed · Cited by 729
An enhanced MITOMAP with a global mtDNA mutational phylogeny
Ruiz‐Pesini, E., Lott, M. T., Procaccio, V., Poole, J. C., Brandon, M., Mishmar, D., Yi, C., Kreuziger, J., Baldi, P., & Wallace, D. C. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl927 · Cited by 658
Mitochondrial Genome Variation in Eastern Asia and the Peopling of JapanPreprint
Tanaka, M., Cabrera, V. M., González, A. M., Larruga, J. M., Takeyasu, T., Fuku, N., Guo, L.-J., Hirose, R., Fujita, Y., Kurata, M., et al. (2004) · Genome Research · doi:10.1101/gr.2286304 · Cited by 526
Flagged first, then by citations
Cited by
Sorted by citations
Items 301–400 of 1,001
Lin, K.-J., Wang, T., Chen, S., Lin, K.-L., Liou, C., Lan, M., Chuang, Y., Chuang, J., Wang, P., Lee, J., et al. (2021) · Antioxidants · doi:10.3390/antiox10121935 · Cited by 63
Genetic Structure of Qiangic Populations Residing in the Western Sichuan Corridor
Wang, C., Wang, L.-X., Shrestha, R., Zhang, M., Huang, X.-Y., Hu, K., Li, J., & Li, H. (2014) · PLoS ONE · doi:10.1371/journal.pone.0103772 · Cited by 59
Next‐generation sequencing for mitochondrial disorders
Carroll, C. J., Brilhante, V., & Suomalainen, A. (2013) · British Journal of Pharmacology · doi:10.1111/bph.12469 · Cited by 58
Tracing the legacy of the early Hainan Islanders - a perspective from mitochondrial DNA
Peng, M., He, J.-D., Liu, H., & Zhang, Y. (2011) · BMC Evolutionary Biology · doi:10.1186/1471-2148-11-46 · Cited by 58
Kurelac, I., Mackay, A. G., Lambros, M. B. K., Cesare, E. D., Cenacchi, G., Ceccarelli, C., Morra, I., Melcarne, A., Morandi, L., Calabrese, F. M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds422 · Cited by 58
AMY-tree: an algorithm to use whole genome SNP calling for Y chromosomal phylogenetic applications
Geystelen, A. V., Decorte, R., & Larmuseau, M. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-101 · Cited by 57
Keating, B. J., Bansal, A. T., Walsh, S., Millman, J. S., Newman, J., Kídd, K. K., Budowle, B., Eisenberg, A. J., Donfack, J., Gasparini, P., et al. (2012) · International Journal of Legal Medicine · doi:10.1007/s00414-012-0788-1 · Cited by 58
Self-citationMitochondria and Alzheimer’s Disease: the Role of Mitochondrial Genetic Variation
Ridge, P. G., & Kauwe, J. S. K. (2018) · Current Genetic Medicine Reports · doi:10.1007/s40142-018-0132-2 · Cited by 59
A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humansPreprint
Bolze, A., Mendez, F. L., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Rossi, A. D., Cirulli, E. T., Rashkin, M. D., Metcalf, W. J., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/798264 · Cited by 57
Cavaliere, G., & Palacios‐González, C. (2018) · Journal of Medical Ethics · doi:10.1136/medethics-2017-104450 · Cited by 57
Wei, W., Gómez-Durán, A., Hudson, G., & Chinnery, P. F. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1007126 · Cited by 57
Guo, Y. P., Cai, Q., Samuels, D. C., Ye, F., Long, J., Li, C.-I., Winther, J. F., Tawn, E. J., Stovall, M. A., Lähteenmäki, P. M., et al. (2012) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2012.02.006 · Cited by 57
Mitochondrial Mutations in Subjects with Psychiatric Disorders
Sequeira, A., Rollins, B. L., Magnan, C., van Oven, M., Baldi, P., Myers, R., Barchas, J. D., Schatzberg, A. F., Watson, S. J., Akil, H., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0127280 · Cited by 56
Kytövuori, L., Lipponen, J., Rusanen, H., Komulainen, T., Martikainen, M. H., & Majamaa, K. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8249-2 · Cited by 56
Clima, R., Preste, R., Calabrese, C., Diroma, M. A., Santorsola, M., Scioscia, G., Simone, D., Shen, L., Gasparre, G., & Attimonelli, M. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw1066 · Cited by 56
Bai, H., Guo, X., Narisu, N., Lan, T., Wu, Q., Xing, Y., Zhang, Y., Bond, S. R., Pei, Z., Zhang, Y., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0250-5 · Cited by 55
NUMT Confounding Biases Mitochondrial Heteroplasmy Calls in Favor of the Reference Allele
Maude, H., Davidson, M. S., Charitakis, N., Diaz, L., Bowers, W. H. T., Gradovich, E., Andrew, T., & Huntley, D. M. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00201 · Cited by 56
Applying genomic and transcriptomic advances to mitochondrial medicine
Macken, W. L., Vandrovcová, J., Hanna, M. G., & Pitceathly, R. D. S. (2021) · Nature Reviews Neurology · doi:10.1038/s41582-021-00455-2 · Cited by 56
Philley, J. V., Kannan, A., Qin, W., Sauter, E. R., Ikebe, M., Hertweck, K. L., Troyer, D. A., Semmes, O. J., & Dasgupta, S. (2015) · Journal of Cellular Physiology · doi:10.1002/jcp.25240 · Cited by 55
Zhou, Y., Guo, F., Yu, J., Liu, F., Zhao, J., Shen, H., Zhao, B., Jia, F., Sun, Z., He, S., et al. (2016) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2016.01.004 · Cited by 55
Shen, L., Diroma, M. A., Gonzalez, M., Navarro-Gomez, D., Leipzig, J. N., Lott, M. T., van Oven, M., Wallace, D. C., Muraresku, C. C., Zolkipli‐Cunningham, Z., et al. (2016) · Human Mutation · doi:10.1002/humu.22974 · Cited by 55
Caporali, L., Iommarini, L., Morgia, C. L., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Dotto, V. D., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007210 · Cited by 55
Wang, Q., Zhao, J., Ren, Z., Sun, J., He, G., Guo, J., Zhang, H., Ji, J., Liu, Y., Yang, M., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2020.618614 · Cited by 53
Mitochondrial DNA variation in human metabolic rate and energy expenditure
Tranah, G. J., Manini, T. M., Lohman, K. K., Nalls, M. A., Kritchevsky, S. B., Newman, A. B., Harris, T. B., Miljkovic, I., Biffi, A., Cummings, S. R., et al. (2011) · Mitochondrion · doi:10.1016/j.mito.2011.04.005 · Cited by 53
Marakeby, H., Badr, E., Torkey, H., Song, Y., Leman, S. C., Monteil, C. L., Heath, L. S., & Vinatzer, B. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0089142 · Cited by 54
The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns
Irwin, J. A., Ikramov, A., Saunier, J. L., Bodner, M., Amory, S., Röck, A. W., O’Callaghan, J. E., Nuritdinov, A., Atakhodjaev, S., Mukhamedov, R., et al. (2010) · International Journal of Legal Medicine · doi:10.1007/s00414-009-0406-z · Cited by 54
Paulsen, F. P. (2010) · Annals of Anatomy - Anatomischer Anzeiger · doi:10.1016/j.aanat.2010.09.007 · Cited by 54
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes
Razali, R., Rodríguez-Flores, J. L., Ghorbani, M., Naeem, H., Aamer, W., ALIYEV, E. E., Jubran, A., Qatar Genome Project Management, Ismail, S. I., Al‐Muftah, W., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-25287-y · Cited by 55
Mendisco, F., Keyser, C., Hollard, C., Seldes, V., Nielsen, A. E., Crubézy, É., & Ludes, B. (2011) · Electrophoresis · doi:10.1002/elps.201000483 · Cited by 53
Pereira, L., Černý, V., Cerezo, M., Silva, N. M., Hájek, M., Vašíková, A., Kujanová, M., Brdička, R., & Salas, A. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.21 · Cited by 53
The maternal aborigine colonization of La Palma (Canary Islands)
Fregel, R., Pestano, J., Arnay, M., Cabrera, V. M., Larruga, J. M., & González, A. M. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.46 · Cited by 53
Raff, J., & Bolnick, D. A. (2015) · PaleoAmerica · doi:10.1179/2055556315z.00000000040 · Cited by 50
Ricaut, F., Razafindrazaka, H., Cox, M. P., Dugoujon, J., Guitard, E., Sambo, C., Mormina, M., Lahr, M. M., Ludes, B., & Crubézy, É. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-605 · Cited by 52
HaploGrouper: a generalized approach to haplogroup classification
Jagadeesan, A., Ebenesersdóttir, S. S., Guðmundsdóttir, V. B., Þórðardóttir, E. L., Moore, K. H. S., & Helgason, A. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btaa729 · Cited by 52
Peck, M. A., Sturk‐Andreaggi, K., Thomas, J. T., Oliver, R. S., Barritt-Ross, S., & Marshall, C. K. (2018) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2018.01.004 · Cited by 53
Csáky, V., Gerber, D., Koncz, I., Csiky, G., Mende, B. G., Szeifert, B., Egyed, B., Pamjav, H., Marcsik, A., Molnár, E., et al. (2020) · Scientific Reports · doi:10.1038/s41598-019-57378-8 · Cited by 60
Static and Moving Frontiers: The Genetic Landscape of Southern African Bantu-Speaking Populations
Marks, S. J., Montinaro, F., Levy, H., Brisighelli, F., Ferri, G., Bertoncini, S., Batini, C., Busby, G., Arthur, C. K., Mitchell, P. J., et al. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu263 · Cited by 50
Tracing the Origin of the East-West Population Admixture in the Altai Region (Central Asia)
González‐Ruiz, M., dos Santos, C. M. P., Jordana, X., Simón, M., Lalueza‐Fox, C., Gigli, E., Aluja, M. P., & Morera, A. M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048904 · Cited by 51
Folate deficiency as predisposing factor for childhood leukaemia: a review of the literature
Cantarella, C. D., Ragusa, D., Giammanco, M., & Tosi, S. (2017) · Genes & Nutrition · doi:10.1186/s12263-017-0560-8 · Cited by 52
Neparáczki, E., Maróti, Z., Kalmár, T., Kocsy, K., Maár, K., Bihari, P., Nagy, I., Fóthi, E., Pap, I., Kustár, Á., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0205920 · Cited by 51
Interdisciplinary approach to the demography of Jamaica
Deason, M. L., Salas, A., Newman, S. P., Macaulay, V. A., Morrison, E., & Pitsiladis, Y. P. (2012) · BMC Evolutionary Biology · doi:10.1186/1471-2148-12-24 · Cited by 50
Estimates of Continental Ancestry Vary Widely among Individuals with the Same mtDNA Haplogroup
Emery, L. S., Magnaye, K. M., Bigham, A. W., Akey, J. M., & Bamshad, M. J. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.12.015 · Cited by 50
A molecular portrait of maternal sepsis from Byzantine Troy
Devault, A. M., Mortimer, T. D., Kitchen, A., Kiesewetter, H., Enk, J. M., Golding, G. B., Southon, J. R., Kuch, M., Duggan, A. T., Aylward, W., et al. (2017) · eLife · doi:10.7554/elife.20983 · Cited by 51
A genetic history of the Balkans from Roman frontier to Slavic migrations
Olalde, Í., Carrión, P., Mikić, I., Rohland, N., Mallick, S., Lazaridis, I., Mah, M., Korać, M., Golubović, S., Petković, S., et al. (2023) · Cell · doi:10.1016/j.cell.2023.10.018 · Cited by 53
Fendt, L., Niederstätter, H., Huber, G. E., Zelger, B. G., Dünser, M., Seifarth, C., Röck, A. W., Schäfer, G., Klocker, H., & Parson, W. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-010-1092-8 · Cited by 50
The GHEP–EMPOP collaboration on mtDNA population data—A new resource for forensic casework
Prieto, L., Zimmermann, B., Goios, A., Rodrı́guez-Monge, A., Paneto, G. G., Alves, C., Alonso, A., Fridman, C., Cardoso, S., Lima, G., et al. (2010) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2010.10.013 · Cited by 50
Kushniarevich, A., Sivitskaya, L. N., Даниленко, Н. Г., Новогродский, Т. А., Tsybovsky, I. S., Kiseleva, A., Kotova, S. A., Chaubey, G., Metspalu, E., Sahakyan, H., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0066499 · Cited by 50
First Ancient Mitochondrial Human Genome from a Prepastoralist Southern African
Morris, A. G., Heinze, A., Chan, E. K. F., Smith, A. B., & Hayes, V. M. (2014) · Genome Biology and Evolution · doi:10.1093/gbe/evu202 · Cited by 50
Genetic evidence of a recent Tibetan ancestry to Sherpas in the Himalayan region
Bhandari, S., Zhang, X., Cui, C., Bianba, Liao, S., Peng, Y., Zhang, H., Xiang, K., Shi, H., Ouzhuluobu, et al. (2015) · Scientific Reports · doi:10.1038/srep16249 · Cited by 50
Ancient DNA Reconstructs the Genetic Legacies of Precontact Puerto Rico Communities
Nieves-Colón, M. A., Pestle, W. J., Reynolds, A. W., Llamas, B., Castro, C. D. L. F., Fowler, K., Skerry, K. M., Crespo-Torres, E. F., Bustamante, C. D., & Stone, A. C. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz267 · Cited by 52
Ramallo, V., Bisso‐Machado, R., Bravi, C. M., Coble, M. D., Salzano, F. M., Hünemeier, T., & Bortolini, M. C. (2013) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22219 · Cited by 52
Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia
Malyarchuk, B. А., Derenko, M. V., Denisova, G., & Kravtsova, O. A. (2010) · Molecular Biology and Evolution · doi:10.1093/molbev/msq065 · Cited by 50
African human mtDNA phylogeography at-a-glance.
Rosa, A., & Brehm, A. (2011) · PubMed · doi:10.4436/jass.89006 · Cited by 51
He, G., Li, Y., Wang, M., Zou, X., Yeh, H., Yang, X., Wang, Z., Tang, R., Zhu, S., Guo, J., et al. (2020) · Journal of Systematics and Evolution · doi:10.1111/jse.12670 · Cited by 47
Battle, S. L., Puiu, D., TOPMed mtDNA Working Group, Verlouw, J., Broer, L., Boerwinkle, E., Taylor, K. D., Rotter, J. I., Rich, S. S., Grove, M. L., et al. (2022) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqac034 · Cited by 46
Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage
Brisighelli, F., Álvarez‐Iglesias, V., Fondevila, M., Blanco‐Verea, A., Carracedo, Á., Pascali, V. L., Capelli, C., & Salas, A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0050794 · Cited by 49
Western Eurasian ancestry in modern Siberians based on mitogenomic data
Derenko, M. V., Malyarchuk, B. А., Denisova, G. A., Perkova, M. A., Litvinov, A., Grzybowski, T., Dambueva, I. K., Skonieczna, K., Rogalla, U., Tsybovsky, I. S., et al. (2014) · BMC Evolutionary Biology · doi:10.1186/s12862-014-0217-9 · Cited by 47
Mitochondrial NADH dehydrogenase polymorphisms are associated with breast cancer in Poland
Grzybowska‐Szatkowska, L., & Ślaska, B. (2014) · Journal of Applied Genetics · doi:10.1007/s13353-013-0190-9 · Cited by 49
Genomic insights on the ethno-history of the Maya and the ‘Ladinos’ from Guatemala
Söchtig, J., Álvarez‐Iglesias, V., Mosquera‐Miguel, A., Gelabert-Besada, M., Gómez‐Carballa, A., & Salas, A. (2015) · BMC Genomics · doi:10.1186/s12864-015-1339-1 · Cited by 52
Genetic Stratigraphy of Key Demographic Events in Arabia
Fernandes, V., Tříska, P., Pereira, J. B., Alshamali, F., Rito, T., Machado, A., Fajkošová, Z., Cavadas, B., Černý, V., Soares, P. A., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0118625 · Cited by 48
Duggan, A. T., Whitten, M., Wiebe, V., Crawford, M., Butthof, A., Va, S., Makarov, S., Novgorodov, I. N., Осаковский, В. Л., & Pakendorf, B. (2013) · PLoS ONE · doi:10.1371/journal.pone.0083570 · Cited by 49
Genetic Heterogeneity in Algerian Human Populations
Bekada, A., Arauna, L. R., Deba, T., Calafell, F., Benhamamouch, S., & Comas, D. (2015) · PLoS ONE · doi:10.1371/journal.pone.0138453 · Cited by 47
Mapping human dispersals into the Horn of Africa from Arabian Ice Age refugia using mitogenomes
Gandini, F., Achilli, A., Pala, M., Bodner, M., Brandini, S., Huber, G. E., Egyed, B., Ferretti, L., Gómez‐Carballa, A., Salas, A., et al. (2016) · Scientific Reports · doi:10.1038/srep25472 · Cited by 47
A phylogenetic approach for haplotype analysis of sequence data from complex mitochondrial mixtures
Vohr, S. H., Gordon, R., Eizenga, J. M., Erlich, H. A., Calloway, C., & Green, R. E. (2017) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2017.05.007 · Cited by 49
Complete human mtDNA genome sequences from Vietnam and the phylogeography of Mainland Southeast Asia
Dương, N. T., Macholdt, E., Tôn, N. Đ., Arias, L., Schröder, R., Phòng, N. V., Thuỷ, V. T. B., Hà, N. H., Huệ, H. T. T., Xuân, N. T., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-29989-0 · Cited by 49
Churchill, J. D., Amory, C., Lagace, R. E., Roth, C., Parson, W., & Budowle, B. (2020) · Genes · doi:10.3390/genes11111345 · Cited by 49
Internet Accessible Population Databases: YHRD and EMPOP
Roewer, L., & Parson, W. (2013) · Encyclopedia of Forensic Sciences · doi:10.1016/b978-0-12-382165-2.00065-9 · Cited by 49
Slon, V., Glocke, I., Barkai, R., Gopher, A., Hershkovitz, I., & Meyer, M. (2015) · Quaternary International · doi:10.1016/j.quaint.2015.03.039 · Cited by 50
Mitochondrial DNA Mutations Associated with Type 2 Diabetes Mellitus in Chinese Uyghur Population
Jiang, W., Li, R., Zhang, Y., Wang, P., Wu, T., Lin, J., Yu, J. M., & Gu, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-17086-7 · Cited by 48
Mitochondrial DNA Sequence Variation Associated with Dementia and Cognitive Function in the Elderly
Tranah, G. J., The Health, A. A. B. C. S., Nalls, M. A., Katzman, S. M., Yokoyama, J. S., Lam, E. T., Zhao, Y., Mooney, S. D., Thomas, F., Newman, A. B., et al. (2012) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-120466 · Cited by 50
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
Self-citationThe Marquesans at the fringes of the Austronesian expansion
Palencia-Madrid, L., Baeta, M., Villaescusa, P., Núńez, C., de Pancorbo, M. M., Luis, J. R., Fadhlaoui‐Zid, K., Somarelli, J. A., Garcia‐Bertrand, R., & Herrera, R. J. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0336-2 · Cited by 47
Ren, Z., Yang, M., Jin, X., Wang, Q., Liu, Y., Zhang, H., Ji, J., Wang, C., & Huang, J. (2022) · Frontiers in Ecology and Evolution · doi:10.3389/fevo.2022.995783 · Cited by 47
Insights into the genetic histories and lifeways of Machu Picchu’s occupants
Salazar, L. C., Burger, R. L., Forst, J., Barquera, R., Nesbitt, J., Flores, J. A. C., Washburn, E., Verano, J. W., Zhu, K. T., Sop, K., et al. (2023) · Science Advances · doi:10.1126/sciadv.adg3377 · Cited by 50
Wong, L.-P., Lai, J. K. H., Saw, W., Ong, R. T., Cheng, A. Y., Pillai, N. E., Liu, X., Xu, W., Chen, P., Foo, J. N., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004377 · Cited by 49
Gomes, S. M., Bodner, M., Souto, L., Zimmermann, B., Huber, G. E., Strobl, C., Röck, A. W., Achilli, A., Olivieri, A., Torroni, A., et al. (2015) · BMC Genomics · doi:10.1186/s12864-014-1201-x · Cited by 48
García, O., Fregel, R., Larruga, J. M., Álvarez, V., Yurrebaso, I., Cabrera, V. M., & González, A. M. (2010) · Heredity · doi:10.1038/hdy.2010.47 · Cited by 47
Chen, A., Raule, N., Chomyn, A., & Attardi, G. M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046473 · Cited by 47
Decrypting the Mitochondrial Gene Pool of Modern Panamanians
Perego, U. A., Lancioni, H., Tribaldos, M., Angerhofer, N., Ekins, J. E., Olivieri, A., Woodward, S. R., Pascale, J. M., Cooke, R. G., Motta, J. A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0038337 · Cited by 47
Smith, P., Elson, J. L., Greaves, L. C., Wortmann, S. B., Rodenburg, R. J., Lightowlers, R. N., Chrzanowska‐Lightowlers, Z. M., Taylor, R. W., & Vila‐Sanjurjo, A. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt490 · Cited by 47
Schulmann, A., Ryu, E., Gonçalves, V. F., Rollins, B. L., Christiansen, M., Frye, M. A., Biernacka, J. M., & Vawter, M. P. (2019) · Complex Psychiatry · doi:10.1159/000495658 · Cited by 48
Mitonuclear genomics and aging
Reynolds, J. C., Bwiza, C. P., & Lee, C. D. (2020) · Human Genetics · doi:10.1007/s00439-020-02119-5 · Cited by 56
Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients
Zhang, A., Jia, X., Bi, R., Salas, A., Li, S., Xiao, X., Wang, P., Guo, X., Kong, Q., Zhang, Q., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0027750 · Cited by 48
Núńez, C., Baeta, M., Sosa, C., Casalod, Y., Ge, J., Budowle, B., & Martínez‐Jarreta, B. (2010) · American Journal of Physical Anthropology · doi:10.1002/ajpa.21355 · Cited by 48
van Oven, M., Hämmerle, J. M., van Schoor, M., Kushnick, G., Pennekamp, P., Zega, I., Lao, Ó., Brown, L., Kennerknecht, I., & Kayser, M. (2010) · Molecular Biology and Evolution · doi:10.1093/molbev/msq300 · Cited by 46
Self-citationLi, Y., Beckman, K. B., Caberto, C., Kazma, R., Lum‐Jones, A., Haiman, C. A., Marchand, L. L., Stram, D. O., Saxena, R., & Cheng, I. C. (2015) · PLoS ONE · doi:10.1371/journal.pone.0136796 · Cited by 46
A high-throughput Sanger strategy for human mitochondrial genome sequencing
Lyons, E. A., Scheible, M. K. R., Sturk‐Andreaggi, K., Irwin, J. A., & Just, R. S. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-881 · Cited by 46
Mitonuclear linkage disequilibrium in human populations
Sloan, D. B., Fields, P. D., & Havird, J. C. (2015) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2015.1704 · Cited by 41
Fang, H., Zhang, F., Li, F., Shi, H. S., Ma, L., Du, M., You, Y., Qiu, R., Nie, H., Shen, L., et al. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2015.12.017 · Cited by 46
Lindberg, M. R., Schmedes, S. E., Hewitt, F. C., Haas, J., Ternus, K. L., Kadavy, D. R., & Budowle, B. (2016) · PLoS ONE · doi:10.1371/journal.pone.0167600 · Cited by 48
Maternal Genetic Ancestry and Legacy of 10th Century AD Hungarians
Csősz, A., Szécsényi‐Nagy, A., Csáky, V., Langó, P., Bódis, V., Köhler, K., Tömöry, G., Nagy, M. S., & Mende, B. G. (2016) · Scientific Reports · doi:10.1038/srep33446 · Cited by 46
Evidence for multi-copy Mega-NUMT s in the human genome
Lutz‐Bonengel, S., Niederstätter, H., Naue, J., Kozieł, R., Yang, F., Sänger, T., Huber, G. E., Berger, C., Pflugradt, R., Strobl, C., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa1271 · Cited by 51
Cell reprogramming shapes the mitochondrial DNA landscape
Wei, W., Gaffney, D. J., & Chinnery, P. F. (2021) · Nature Communications · doi:10.1038/s41467-021-25482-x · Cited by 47
Gu, X., Kang, X., & Liu, J. (2019) · Human Genetics · doi:10.1007/s00439-019-02009-5 · Cited by 45
The rate and nature of mitochondrial DNA mutations in human pedigrees
Árnadóttir, E. R., Moore, K. H. S., Guðmundsdóttir, V. B., Ebenesersdóttir, S. S., Guity, K., Jónsson, H., Stefánsson, K., & Helgason, A. (2024) · Cell · doi:10.1016/j.cell.2024.05.022 · Cited by 52
Liu, S., Bai, Y., Huang, J., Zhao, H., Zhang, X., Hu, S., & Wei, Y. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.02.004 · Cited by 45
Breast cancer risk and genetic ancestry: a case–control study in Uruguay
Bonilla, C., Bertoni, B., Hidalgo, P., Artagaveytia, N., Ackermann, E., Barreto, I., Cancela, P., Cappetta, M., Egaña, A., Figueiro, G., et al. (2015) · BMC Women's Health · doi:10.1186/s12905-015-0171-8 · Cited by 39
Hagen, C. M., Aidt, F., Hedley, P. L., Jensen, M. K., Havndrup, O., Kanters, J. K., Moolman‐Smook, J. C., Larsen, S. O., Bundgaard, H., & Christiansen, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0071904 · Cited by 45
Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies
Ramos, A., Barbena, E., Mateiu, L. M., González, M. D. M., Mairal, Q., Lima, M. C. F., Montiel, R., Aluja, M. P., & dos Santos, C. M. P. (2011) · Mitochondrion · doi:10.1016/j.mito.2011.08.009 · Cited by 45
Inland post-glacial dispersal in East Asia revealed by mitochondrial haplogroup M9a'b
Peng, M., Palanichamy, M. G., Yao, Y., Mitra, B., Cheng, Y., Zhao, M., Liu, J., Wang, H., Pan, H., Wang, W., et al. (2011) · BMC Biology · doi:10.1186/1741-7007-9-2 · Cited by 45
Metadata
- Authors
- van Oven, M., & Kayser, M.
- Affiliations
- Erasmus MC (NL)
- ORCID
- Kayser, Manfred
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2009-02
- Volume
- 30
- Issue
- 2
- Pages
- E386-E394
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2111668248
- Cited by
- 1,810
- References
- 90
- Citations by year
- 2026: 46 · 2025: 74 · 2024: 66 · 2023: 86 · 2022: 131 · 2021: 113 · 2020: 99 · 2019: 120 · 2018: 123 · 2017: 130 · 2016: 115 · 2015: 129 · 2014: 129 · 2013: 135 · 2012: 103
- FWCI
- 39.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- human mitochondrial DNA, mtDNA phylogeny, mtDNA haplogroups
- MeSH terms
- DNA, Mitochondrial, Haplotypes, Humans, Phylogeny, Genetic Variation, Open Reading Frames, Locus Control Region
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
