| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 1463007 | 1992 | Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 . |
| 2 | 10737123 | 1998 | Kosel, S., Grasbon-Frodl, E. M., Mautsch, U., Egensperger, R., von Eitzen, U., Frishman, D., Hofmann, S., Gerbitz, K. D., Mehraein, P., Graeber, M. B. (1998) Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease Neurogenetics . 1 (3): 197-204 . |
| 3 | 11115380 | 2001 | Elson, J. L., Andrews, R. M., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., Howell, N. (2001) Analysis of European mtDNAs for recombination American Journal of Human Genetics . 68 (1): 145-153 . |
| 4 | 11938495 | 2002 | Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 . |
| 5 | 12802679 | 2003 | Lehtonen, M. S., Moilanen, J. S., Majamaa, K. (2003) Increased variation in mtDNA in patients with familial sensorineural hearing impairment Human Genetics . 113 (3): 220-227 . |
| 6 | 14760490 | 2004 | Coble, M. D., Just, R. S., O'Callaghan, J. E., Letmanyi, I. H., Peterson, C. T., Irwin, J. A., Parsons, T. J. (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians International Journal of Legal Medicine . 118 (3): 137-146 . |
| 7 | 15638829 | 2005 | Starikovskaya, E. B., Sukernik, R. I., Derbeneva, O. A., Volodko, N. V., Ruiz-Pesini, E., Torroni, A., Brown, M. D., Lott, M. T., Hosseini, S. H., Huoponen, K., Wallace, D. C. (2005) Mitochondrial DNA diversity in indigenous populations of the southern belt of Siberia and its implications for the origins and evolution of Native American haplogroups Annals of Human Genetics . 69 (Pt 1): 67-89 . |
| 8 | 16714301 | 2006 | Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 . |
| 9 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
| 10 | 21281460 | 2011 | Loo, J. H., Trejaut, J. A., Yen, J. C., Chen, Z. S., Lee, C. L., Lin, M. (2011) Genetic affinities between the Yami tribe people of Orchid Island and the Philippine Islanders of the Batanes archipelago BMC Genetics . 12 (Jan 31): 21 . |
| 11 | 21978175 | 2011 | Kumar, S., Bellis, C., Zlojutro, M., Melton, P. E., Blangero, J., Curran, J. E. (2011) Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins BMC Evolutionary Biology . 11 (): 293 . |
| 12 | 22312186 | 2012 | Roshan, M., Kabekkodu, S. P., Vijaya, P. H., Manjunath, K., Graw, J., Gopinath, P. M., Satyamoorthy, K. (2012) Analysis of mitochondrial DNA variations in Indian patients with congenital cataract Molecular Vision . 18 (): 181-193 . |
| 13 | 22927010 | 2012 | Al-Abri, A., Podgorna, E., Rose, J. I., Pereira, L., Mulligan, C. J., Silva, N. M., Bayoumi, R., Soares, P., Cerny, V. (2012) Pleistocene-Holocene boundary in Southern Arabia from the perspective of human mtDNA variation American Journal of Physical Anthropology . 149 (2): 291-298 . |
| 14 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 15 | 31798871 | 2019 | Alharbi, M. A., Al-Kafaji, G., Khalaf, N. B., Messaoudi, S. A., Taha, S., Daif, A., Bakhiet, M. (2019) Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis Biomedical Reports . 11 (6): 257-268 . |