| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 12749053 | 2003 | Howell, N., Herrnstadt, C., Shults, C., Mackey, D. A. (2003) Low penetrance of the 14484 LHON mutation when it arises in a non- haplogroup J mtDNA background American Journal of Medical Genetics . 119A (2): 147-151 . |
| 2 | 15382008 | 2004 | Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V., Moral, P., Dugoujon, J. M., Roostalu, U., Loogvali, E. L., Kivisild, T., Bandelt, H. J., Richards, M., Villems, R., Santachiara-Benerecetti, A. S., Semino, O., Torroni, A. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool American Journal of Human Genetics . 75 (5): 910-918 . |
| 3 | 16168391 | 2005 | Zhao, L., Wang, Q., Qian, Y., Li, R., Cao, J., Hart, L. C., Zhai, S., Han, D., Young, W. Y., Guan, M. X. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss Biochemical and Biophysical Research Communications . 336 (3): 967-973 . |
| 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 | 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 |
| 6 | 19167085 | 2009 | Qu, J., Zhou, X., Zhang, J., Zhao, F., Sun, Y. H., Tong, Y., Wei, Q. P., Cai, W., Yang, L., West, C. E., Guan, M. X. (2009) Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation Ophthalmology . 116 (3): 558-564 e3 . |
| 7 | 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 . |
| 8 | 22487888 | 2012 | Sukernik, R. I., Volodko, N. V., Mazunin, I. O., Eltsov, N. P., Dryomov, S. V., Starikovskaya, E. B. (2012) Mitochondrial genome diversity in the Tubalar, Even, and Ulchi: contribution to prehistory of native Siberians and their affinities to Native Americans American Journal of Physical Anthropology . 148 (1): 123-138 . |
| 9 | 23375258 | 2013 | Pinos, T., Melia, M. J., Ortiz, N., Martinez-Vea, A., Raventos-Estelle, A., Gallardo, E., Hernandez-Losa, J., Camara, Y., Andreu, A. L., Garcia-Arumi, E. (2013) Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis Neuromuscular Disorders . 23 (4): 330-336 . |
| 10 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 11 | 24667788 | 2015 | Zhang, J., Zhang, Z. X., Du, P. C., Zhou, W., Wu, S. D., Wang, Q. L., Chen, C., Shi, Q., Chen, C., Gao, C., Tian, C., Dong, X. P. (2015) Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease European Journal of Human Genetics . 23 (1): 86-91 . |
| 12 | 32094358 | 2020 | Marcus, J. H., Posth, C., Ringbauer, H., Lai, L., Skeates, R., Sidore, C., Beckett, J., Furtwangler, A., Olivieri, A., Chiang, C. W. K., Al-Asadi, H., Dey, K., Joseph, T. A., Liu, C. C., Der Sarkissian, C., Radzeviciute, R., Michel, M., Gradoli, M. G., Marongiu, P., Rubino, S., Mazzarello, V., Rovina, D., La Fragola, A., Serra, R. M., Bandiera, P., Bianucci, R., Pompianu, E., Murgia, C., Guirguis, M., Orquin, R. P., Tuross, N., van Dommelen, P., Haak, W., Reich, D., Schlessinger, D., Cucca, F., Krause, J., Novembre, J. (2020) Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia Nature Communications . 11 (1): 939 . |