| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 8888049 | 1996 | Santorelli, F. M., Schlessel, J. S., Slonim, A. E., DiMauro, S. (1996) Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death Pediatric Neurology . 15 (2): 145-149 . |
| 2 | 10598821 | 1999 | Lehtonen, M. S., Meinila, M., Hassinen, I. E., Majamaa, K. (1999) Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA Human Genetics . 105 (5): 513-514 . |
| 3 | 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 . |
| 4 | 12160969 | 2002 | Opdal, S. H., Vege, A., Egeland, T., Musse, M. A., Rognum, T. O. (2002) Possible role of mtDNA mutations in sudden infant death Pediatric Neurology . 27 (1): 23-29 . |
| 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 | 15466077 | 2004 | Opdal, S. H., Rognum, T. O. (2004) The sudden infant death syndrome gene: does it exist? Pediatrics . 114 (4): e506-512 . |
| 7 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 8 | 15983868 | 2005 | Vilmi, T., Moilanen, J. S., Finnila, S., Majamaa, K. (2005) Sequence variation in the tRNA genes of human mitochondrial DNA Journal of Molecular Evolution . 60 (5): 587-597 . |
| 9 | 16721903 | 2006 | Brandstatter, A., Salas, A., Niederstatter, H., Gassner, C., Carracedo, A., Parson, W. (2006) Dissection of mitochondrial superhaplogroup H using coding region SNPs Electrophoresis . 27 (13): 2541-2550 |
| 10 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
| 11 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
| 12 | 19050702 | 2008 | Webb, E., Broderick, P., Chandler, I., Lubbe, S., Penegar, S., Tomlinson, I. P., Houlston, R. S. (2008) Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk British Journal of Cancer . 99 (12): 2088-2093 . |
| 13 | 19340307 | 2009 | Alvarez-Iglesias, V., Mosquera-Miguel, A., Cerezo, M., Quintans, B., Zarrabeitia, M. T., Cusco, I., Lareu, M. V., Garcia, O., Perez-Jurado, L., Carracedo, A., Salas, A. (2009) New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0 PLoS One . 4 (4): e5112 . |
| 14 | 20211276 | 2010 | Tang, S., Batra, A., Zhang, Y., Ebenroth, E. S., Huang, T. (2010) Left ventricular noncompaction is associated with mutations in the mitochondrial genome Mitochondrion . 10 (4): 350-357 . |
| 15 | NA | 2016 | van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb . |
| 16 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
| 17 | 31152278 | 2020 | Kytovuori, L., Junttila, J., Huikuri, H., Keinanen-Kiukaanniemi, S., Majamaa, K., Martikainen, M. H. (2020) Mitochondrial DNA variation in sudden cardiac death: a population-based study International Journal of Legal Medicine . 134 (1): 39-44 . |
| 18 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |