| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 9792552 | 1998 | Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M., Turnbull, D. M. (1998) Mitochondrial diabetes: investigation and identification of a novel mutation Diabetes . 47 (11): 1800-1802 . |
| 2 | 10090882 | 1999 | Mansergh, F. C., Millington-Ward, S., Kennan, A., Kiang, A. S., Humphries, M., Farrar, G. J., Humphries, P., Kenna, P. F. (1999) Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene American Journal of Human Genetics . 64 (4): 971-985 . |
| 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 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
| 5 | 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 . |
| 6 | 17653689 | 2007 | Whittaker, R. G., Schaefer, A. M., McFarland, R., Taylor, R. W., Walker, M., Turnbull, D. M. (2007) Prevalence and progression of diabetes in mitochondrial disease Diabetologia . 50 (10): 2085-2089 . |
| 7 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |
| 8 | 25652200 | 2015 | Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 . |
| 9 | 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 . |