Index | PMID | Date | Reference |
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1 | 22453297 | 2012 | Gotz, A., Isohanni, P., Liljestrom, B., Rummukainen, J., Nikolajev, K., Herrgard, E., Marjavaara, S., Suomalainen, A. (2012) Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation Pediatric Research . 72 (1): 90-94 . |
2 | 24667782 | 2015 | Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 . |
3 | 32313153 | 2020 | Riley, L. G., Cowley, M. J., Gayevskiy, V., Minoche, A. E., Puttick, C., Thorburn, D. R., Rius, R., Compton, A. G., Menezes, M. J., Bhattacharya, K., Coman, D., Ellaway, C., Alexander, I. E., Adams, L., Kava, M., Robinson, J., Sue, C. M., Balasubramaniam, S., Christodoulou, J. (2020) The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Genetics in Medicine 22 (7): 1254-1261 . |