| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 22369973 | 2012 | Schrier, S. A., Wong, L. J., Place, E., Ji, J. Q., Pierce, E. A., Golden, J., Santi, M., Anninger, W., Falk, M. J. (2012) Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts Discovery Medicine . 13 (69): 143-150 . |
| 2 | 22378285 | 2012 | Tuppen, H. A., Naess, K., Kennaway, N. G., Al-Dosary, M., Lesko, N., Yarham, J. W., Bruhn, H., Wibom, R., Nennesmo, I., Weleber, R. G., Blakely, E. L., Taylor, R. W., McFarland, R. (2012) Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy European Journal of Human Genetics . 20 (8): 897-904 . |
| 3 | 23920046 | 2013 | Clarke, C., Xiao, R., Place, E., Zhang, Z., Sondheimer, N., Bennett, M., Yudkoff, M., Falk, M. J. (2013) Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites Molecular Genetics and Metabolism . 110 (1-2): 145-152 and supplemental data . |
| 4 | 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 . |