| Index | PMID | Date | Reference |
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| 2 | 15608681 | 2005 | Abu-Amero, K. K., Alzahrani, A. S., Zou, M., Shi, Y. (2005) High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines Oncogene . 24 (8): 1455-1460 . |
| 3 | 16404693 | 2006 | Behar, D. M., Metspalu, E., Kivisild, T., Achilli, A., Hadid, Y., Tzur, S., Pereira, L., Amorim, A., Quintana-Murci, L., Majamaa, K., Herrnstadt, C., Howell, N., Balanovsky, O., Kutuev, I., Pshenichnov, A., Gurwitz, D., Bonne-Tamir, B., Torroni, A., Villems, R., Skorecki, K. (2006) The matrilineal ancestry of Ashkenazi jewry: portrait of a recent founder event American Journal of Human Genetics . 78 (3): 487-497 . |
| 4 | 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 . |
| 5 | 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 . |
| 6 | 19497304 | 2009 | Yang, J., Zhu, Y., Tong, Y., Chen, L., Liu, L., Zhang, Z., Wang, X., Huang, D., Qiu, W., Zhuang, S., Ma, X. (2009) Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation Biochemical and Biophysical Research Communications . 386 (1): 50-54 . |
| 7 | 19500771 | 2009 | Pala, M., Achilli, A., Olivieri, A., Kashani, B. H., Perego, U. A., Sanna, D., Metspalu, E., Tambets, K., Tamm, E., Accetturo, M., Carossa, V., Lancioni, H., Panara, F., Zimmermann, B., Huber, G., Al-Zahery, N., Brisighelli, F., Woodward, S. R., Francalacci, P., Parson, W., Salas, A., Behar, D. M., Villems, R., Semino, O., Bandelt, H. J., Torroni, A. (2009) Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians American Journal of Human Genetics . 84 (6): 814-821 . |
| 8 | 19733221 | 2010 | Qu, J., Zhou, X., Zhao, F., Liu, X., Zhang, M., Sun, Y. H., Liang, M., Yuan, M., Liu, Q., Tong, Y., Wei, Q. P., Yang, L., Guan, M. X. (2010) Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation Biochimica et Biophysica Acta . 1800 (3): 305-312 . |
| 9 | 20304802 | 2010 | van Oven, M. (2010) Revision of the mtDNA tree and corresponding haplogroup nomenclature Proceedings of the National Academy of Sciences of the United States of America . 107 (11): E38-E39; author reply E40-E41 . |
| 10 | 23304069 | 2012 | Bi, R., Zhang, A. M., Jia, X., Zhang, Q., Yao, Y. G. (2012) Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy Molecular Vision . 18 (): 3087-3094 . |
| 11 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 12 | 29481798 | 2018 | Alila-Fersi, O., Tabebi, M., Maalej, M., Belguith, N., Keskes, L., Mkaouar-Rebai, E., Fakhfakh, F. (2018) First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy Biochemical and Biophysical Research Communications . 497 (4): 1049-1054 . |