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Reconstructing ancient mitochondrial DNA links between Africa and Europe

Cerezo,M., Achilli,A., Olivieri,A., Perego,U.A., Gomez-Carballa,A., Brisighelli,F., Lancioni,H., Woodward,S.R., Lopez-Soto,M., Carracedo,A., Capelli,C., Torroni,A. and Salas,A.

Genome Res. 22 (5), 821-826 (2012)

Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation

Fornarino,S., Pala,M., Battaglia,V., Maranta,R., Achilli,A., Modiano,G., Torroni,A., Semino,O. and Santachiara-Benerecetti,S.A.

BMC Evol. Biol. 9, 154 (2009) Publication Status: Online-Only

The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome

Catelli,M.L., Alvarez-Iglesias,V., Gomez-Carballa,A., Mosquera-Miguel,A., Romanini,C., Borosky,A., Amigo,J., Carracedo,A., Vullo,C. and Salas,A.

BMC Genet. 12, 77 (2011) Publication Status: Online-Only

The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia

Perego,U.A., Angerhofer,N., Pala,M., Olivieri,A., Lancioni,H., Kashani,B.H., Carossa,V., Ekins,J.E., Gomez-Carballa,A., Huber,G., Zimmermann,B., Corach,D., Babudri,N., Panara,F., Myres,N.M., Parson,W., Semino,O., Salas,A., Woodward,S.R., Achilli,A. and Torroni,A.

Genome Res. 20 (9), 1174-1179 (2010)

The trans-Saharan slave trade - clues from interpolation analyses and high-resolution characterization of mitochondrial DNA lineages

Harich,N., Costa,M.D., Fernandes,V., Kandil,M., Pereira,J.B., Silva,N.M. and Pereira,L.

BMC Evol. Biol. 10, 138 (2010) Publication Status: Online-Only

Expanding the clinical phenotypes of MT-ATP6 mutations

Lopez-Gallardo,E., Emperador,S., Solano,A., Llobet,L., Martin-Navarro,A., Lopez-Perez,M.J., Briones,P., Pineda,M., Artuch,R., Barraquer,E., Jerico,I., Ruiz-Pesini,E. and Montoya,J.

Hum. Mol. Genet. (2014) In press Publication Status: Available-Online prior to print

Complete mitochondrial sequences for haplogroups M23 and M46: insights into the Asian ancestry of the Malagasy population

Dubut,V., Cartault,F., Payet,C., Thionville,M.D. and Murail,P.

Hum. Biol. 81 (4), 495-500 (2009)

The genetic impact of the lake chad basin population in north Africa as documented by mitochondrial diversity and internal variation of the l3e5 haplogroup

Podgorna,E., Soares,P., Pereira,L. and Cerny,V.

Ann. Hum. Genet. 77 (6), 513-523 (2013)

The Genomic Legacy of the Transatlantic Slave Trade in the Yungas Valley of Bolivia

Heinz,T., Cardenas,J.M., Alvarez-Iglesias,V., Pardo-Seco,J., Gomez-Carballa,A., Santos,C., Taboada-Echalar,P., Martinon-Torres,F. and Salas,A.

PLoS ONE 10 (8), E0134129 (2015) Publication Status: Online-Only

Mitochondrial genomes reveal an east to west cline of steppe ancestry in Corded Ware populations

Juras,A., Chylenski,M., Ehler,E., Malmstrom,H., Zurkiewicz,D., Wlodarczak,P., Wilk,S., Peska,J., Fojtik,P., Kralik,M., Libera,J., Baginska,J., Tunia,K., Klochko,V.I., Dabert,M., Jakobsson,M. and Kosko,A.

Sci Rep 8 (1), 11603 (2018) Publication Status: Online-Only

A Highly Unstable Recent Mutation in Human mtDNA

Duggan,A.T. and Stoneking,M.

Am. J. Hum. Genet. 92 (2), 279-284 (2013)

Origin and post-glacial dispersal of mitochondrial DNA haplogroups C and D in northern Asia

Derenko,M., Malyarchuk,B., Grzybowski,T., Denisova,G., Rogalla,U., Perkova,M., Dambueva,I. and Zakharov,I.

PLoS ONE 5 (12), E15214 (2010) Publication Status: Online-Only

Contrasting maternal and paternal genetic variation of hunter-gatherer groups in Thailand

Kutanan,W., Kampuansai,J., Changmai,P., Flegontov,P., Schroder,R., Macholdt,E., Hubner,A., Kangwanpong,D. and Stoneking,M.

Sci Rep 8 (1), 1536 (2018) Publication Status: Online-Only

Late Danubian mitochondrial genomes shed light into the Neolithisation of Central Europe in the 5th millennium BC

Chylenski,M., Juras,A., Ehler,E., Malmstrom,H., Piontek,J., Jakobsson,M., Marciniak,A. and Dabert,M.

BMC Evol. Biol. 17 (1), 80 (2017) Publication Status: Online-Only

Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies

Hans-Jürgen Bandelt, Alessandro Achilli, Qing-Peng Kong, Antonio Salas, Sabine Lutz-Bonengel, Chang Sun, Ya-Ping Zhang, Antonio Torroni, Yong-Gang Yao

An up-to-date view of the worldwide mitochondrial DNA (mtDNA) phylogeny together with an evaluation of the conservation of each site is a reliable tool for detecting errors in mtDNA studies and assessing the functional importance of alleged pathogenic mutations. However, most of the published studies on mitochondrial diseases make very little use of the phylogenetic knowledge that is currently available. This drawback has two inadvertent consequences: first, there is no sufficient a posteriori quality assessment of complete mtDNA sequencing efforts; and second, no feedback is provided for the general mtDNA database when apparently new mtDNA lineages are discovered. We demonstrate, by way of example, these issues by reanalysing three mtDNA sequencing attempts, two from Europe and another one from East Asia. To further validate our phylogenetic deductions, we completely sequenced two mtDNAs from healthy subjects that nearly match the mtDNAs of two patients, whose sequences gave problematic results.

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

Quintana-Murci,L., Quach,H., Harmant,C., Luca,F., Massonnet,B., Patin,E., Sica,L., Mouguiama-Daouda,P., Comas,D., Tzur,S., Balanovsky,O., Kidd,K.K., Kidd,J.R., van der Veen,L., Hombert,J.M., Gessain,A., Verdu,P., Froment,A., Bahuchet,S., Heyer,E., Dausset,J., Salas,A. and Behar,D.M.

Proc. Natl. Acad. Sci. U.S.A. 105 (5), 1596-1601 (2008)

Mitochondrial antibiograms in personalized medicine

Pacheu-Grau,D., Gomez-Duran,A., Iglesias,E., Lopez-Gallardo,E., Montoya,J. and Ruiz-Pesini,E.

Hum. Mol. Genet. 22 (6), 1132-1139 (2013)

Investigating the origins of eastern Polynesians using genome-wide data from the Leeward Society Isles

Hudjashov,G., Endicott,P., Post,H., Nagle,N., Ho,S.Y.W., Lawson,D.J., Reidla,M., Karmin,M., Rootsi,S., Metspalu,E., Saag,L., Villems,R., Cox,M.P., Mitchell,R.J., Garcia-Bertrand,R.L., Metspalu,M. and Herrera,R.J.

Sci Rep 8 (1), 1823 (2018) Publication Status: Online-Only

Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of South India

Rani,D.S., Dhandapany,P.S., Nallari,P., Govindaraj,P., Singh,L. and Thangaraj,K.

Mitochondrion 10 (2), 166-173 (2010)

The Mitochondrial Genome Is a 'Genetic Sanctuary' during the Oncogenic Process

Seoane,M., Mosquera-Miguel,A., Gonzalez,T., Fraga,M., Salas,A. and Costoya,J.A.

PLoS ONE 6 (8), E23327 (2011) Publication Status: Online-Only

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells

D'Aurelio,M., Vives-Bauza,C., Davidson,M.M. and Manfredi,G.

Hum. Mol. Genet. 19 (2), 374-386 (2010)

Population history of the Red Sea--genetic exchanges between the Arabian Peninsula and East Africa signaled in the mitochondrial DNA HV1 haplogroup

Musilova,E., Fernandes,V., Silva,N.M., Soares,P., Alshamali,F., Harich,N., Cherni,L., El Gaaied,A.B.A., Al-Meeri,A., Pereira,L. and Cerny,V.

Am. J. Phys. Anthropol. 145 (4), 592-598 (2011)

Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages

Rajkumar,R., Banerjee,J., Gunturi,H.B., Trivedi,R. and Kashyap,V.K.

BMC Evol. Biol. 5 (1), 26 (2005) Erratum:[BMC Evol Biol. 2006;6(9):9] Publication Status: Online-Only

A European Mitochondrial Haplotype Identified in Ancient Phoenician Remains from Carthage, North Africa

Matisoo-Smith,E.A., Gosling,A.L., Boocock,J., Kardailsky,O., Kurumilian,Y., Roudesli-Chebbi,S., Badre,L., Morel,J.P., Sebai,L.L. and Zalloua,P.A.

PLoS ONE 11 (5), E0155046 (2016) Publication Status: Online-Only

Somatic mtDNA mutations in lung tissues of pesticide-exposed fruit growers

Wang,C.Y. and Zhao,Z.B.

Toxicology 291 (1-3), 51-55 (2012)

Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing

Zaragoza,M.V., Fass,J., Diegoli,M., Lin,D. and Arbustini,E.

PLoS ONE 5 (8), E12295 (2010) Publication Status: Online-Only

Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America

Dryomov,S.V., Nazhmidenova,A.M., Shalaurova,S.A., Morozov,I.V., Tabarev,A.V., Starikovskaya,E.B. and Sukernik,R.I.

Eur. J. Hum. Genet. (2015) In press Publication Status: Available-Online prior to print

Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau

Zhao,M., Kong,Q.P., Wang,H.W., Peng,M.S., Xie,X.D., Wang,W.Z., Jiayang, Duan,J.G., Cai,M.C., Zhao,S.N., Cidanpingcuo, Tu,Y.Q., Wu,S.F., Yao,Y.G., Bandelt,H.J. and Zhang,Y.P.

Proc. Natl. Acad. Sci. U.S.A. 106 (50), 21230-21235 (2009)

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency

Hinttala,R., Smeets,R., Moilanen,J.S., Ugalde,C., Uusimaa,J., Smeitink,J.A. and Majamaa,K.

J. Med. Genet. 43 (11), 881-886 (2006)

The Druze: a population genetic refugium of the Near East

Shlush,L.I., Behar,D.M., Yudkovsky,G., Templeton,A., Hadid,Y., Basis,F., Hammer,M., Itzkovitz,S. and Skorecki,K.

PLoS ONE 3 (5), E2105 (2008) Publication Status: Online-Only

Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia

Fedorova,S.A., Reidla,M., Metspalu,E., Metspalu,M., Rootsi,S., Tambets,K., Trofimova,N., Zhadanov,S.I., Hooshiar Kashani,B., Olivieri,A., Voevoda,M.I., Osipova,L.P., Platonov,F.A., Tomsky,M.I., Khusnutdinova,E.K., Torroni,A. and Villems,R.

BMC Evol. Biol. 13 (1), 127 (2013) Publication Status: Online-Only

Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole

Achilli,A., Olivieri,A., Pala,M., Hooshiar Kashani,B., Carossa,V., Perego,U.A., Gandini,F., Santoro,A., Battaglia,V., Grugni,V., Lancioni,H., Sirolla,C., Bonfigli,A.R., Cormio,A., Boemi,M., Testa,I., Semino,O., Ceriello,A., Spazzafumo,L., Gadaleta,M.N., Marra,M., Testa,R., Franceschi,C. and Torroni,A.

PLoS ONE 6 (6), E21029 (2011) Publication Status: Online-Only

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants

Saldana-Martinez,A., Munoz,M.L., Perez-Ramirez,G., Montiel-Sosa,J.F., Montoya,J., Emperador,S., Ruiz-Pesini,E., Cuevas-Covarrubias,S., Lopez-Valdez,J. and Ramirez,R.G.

Gene 688, 171-181 (2018) In press

Mitochondrial DNA analysis of eneolithic trypillians from Ukraine reveals neolithic farming genetic roots

Nikitin,A.G., Potekhina,I., Rohland,N., Mallick,S., Reich,D. and Lillie,M.

PLoS ONE 12 (2), E0172952 (2017) Publication Status: Online-Only

60,000 years of interactions between Central and Eastern Africa documented by major African mitochondrial haplogroup L2

Silva,M., Alshamali,F., Silva,P., Carrilho,C., Mandlate,F., Jesus Trovoada,M., Cerny,V., Pereira,L. and Soares,P.

Sci Rep 5, 12526 (2015) Publication Status: Online-Only

Maternal genetic heritage of southeastern europe reveals a new croatian isolate and a novel, local sub-branching in the x2 haplogroup

Sarac,J., Saric,T., Augustin,D.H., Jeran,N., Kovacevic,L., Cvjetan,S., Lewis,A.P., Metspalu,E., Reidla,M., Novokmet,N., Vidovic,M., Nevajda,B., Glasnovic,A., Marjanovic,D., Missoni,S., Villems,R. and Rudan,P.

Ann. Hum. Genet. 78 (3), 178-194 (2014)

Uncovering the profile of somatic mtDNA mutations in Chinese colorectal cancer patients

Wang,C.Y., Li,H., Hao,X.D., Liu,J., Wang,J.X., Wang,W.Z., Kong,Q.P. and Zhang,Y.P.

PLoS ONE 6 (6), E21613 (2011)

Standing at the gateway to europe - the genetic structure of Western balkan populations based on autosomal and haploid markers

Kovacevic,L., Tambets,K., Ilumae,A.M., Kushniarevich,A., Yunusbayev,B., Solnik,A., Bego,T., Primorac,D., Skaro,V., Leskovac,A., Jakovski,Z., Drobnic,K., Tolk,H.V., Kovacevic,S., Rudan,P., Metspalu,E. and Marjanovic,D.

PLoS ONE 9 (8), E105090 (2014) Publication Status: Online-Only

Uniparental genetic heritage of belarusians: encounter of rare middle eastern matrilineages with a central European mitochondrial DNA pool

Kushniarevich,A., Sivitskaya,L., Danilenko,N., Novogrodskii,T., Tsybovsky,I., Kiseleva,A., Kotova,S., Chaubey,G., Metspalu,E., Sahakyan,H., Bahmanimehr,A., Reidla,M., Rootsi,S., Parik,J., Reisberg,T., Achilli,A., Hooshiar Kashani,B., Gandini,F., Olivieri,A., Behar,D.M., Torroni,A., Davydenko,O. and Villems,R.

PLoS ONE 8 (6), E66499 (2013) Publication Status: Online-Only

Novel A14841G mutation is associated with high penetrance of LHON/C4171A family

Yang,J., Zhu,Y., Chen,L., Zhang,H., Tong,Y., Huang,D., Zhang,Z., Chen,S., Han,X. and Ma,X.

Biochem. Biophys. Res. Commun. 386 (4), 693-696 (2009)

Mitochondrial DNA variability in Slovaks, with application to the Roma origin

Malyarchuk,B.A., Perkova,M.A., Derenko,M.V., Vanecek,T., Lazur,J. and Gomolcak,P.

Ann. Hum. Genet. 72 (PT 2), 228-240 (2008)

Mitochondrial ancestry of medieval individuals carelessly interred in a multiple burial from southeastern Romania

Rusu,I., Modi,A., Radu,C., Mircea,C., Vulpoi,A., Dobrinescu,C., Bodolica,V., Potarniche,T., Popescu,O., Caramelli,D. and Kelemen,B.

Sci Rep 9 (1), 961 (2019) Publication Status: Online-Only

Somatic mutations of mitochondrial genome in early stage breast cancer

Wang,C.Y., Wang,H.W., Yao,Y.G., Kong,Q.P. and Zhang,Y.P.

Int. J. Cancer 121 (6), 1253-1256 (2007)

Larger mitochondrial DNA than Y-chromosome differences between matrilocal and patrilocal groups from Sumatra

Gunnarsdottir,E.D., Nandineni,M.R., Li,M., Myles,S., Gil,D., Pakendorf,B. and Stoneking,M.

Nat Commun 2, 228 (2011) Publication Status: Online-Only

Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families

Brown,M.D., Zhadanov,S., Allen,J.C., Hosseini,S., Newman,N.J., Atamonov,V.V., Mikhailovskaya,I.E., Sukernik,R.I. and Wallace,D.C.

Hum. Genet. 109 (1), 33-39 (2001)

Genomic identification in the historical case of the Nicholas II royal family

Rogaev,E.I., Grigorenko,A.P., Moliaka,Y.K., Faskhutdinova,G., Goltsov,A., Lahti,A., Hildebrandt,C., Kittler,E.L. and Morozova,I.

Proc. Natl. Acad. Sci. U.S.A. 106 (13), 5258-5263 (2009)

From the Cover: Targeted enrichment of ancient pathogens yielding the pPCP1 plasmid of Yersinia pestis from victims of the Black Death

Schuenemann,V.J., Bos,K., Dewitte,S., Schmedes,S., Jamieson,J., Mittnik,A., Forrest,S., Coombes,B.K., Wood,J.W., Earn,D.J., White,W., Krause,J. and Poinar,H.N.

Proc. Natl. Acad. Sci. U.S.A. 108 (38), E746-E752 (2011)

Rapid identification of mtDNA somatic mutations in gastric cancer tissues based on the mtDNA phylogeny

Bi,R., Li,W.L., Chen,M.Q., Zhu,Z. and Yao,Y.G.

Mutat. Res. 709-710, 15-20 (2011)

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees

Carelli,V., Achilli,A., Valentino,M.L., Rengo,C., Semino,O., Pala,M., Olivieri,A., Mattiazzi,M., Pallotti,F., Carrara,F., Zeviani,M., Leuzzi,V., Carducci,C., Valle,G., Simionati,B., Mendieta,L., Salomao,S., Belfort,R. Jr., Sadun,A.A. and Torroni,A.

Am. J. Hum. Genet. 78 (4), 564-574 (2006)

Identification of the remains of King Richard III

King,T.E., Gonzales Fortes,G., Balaresque,P., Thomas,M.G., Balding,D., Maisano Delser,P., Neumann,R., Parson,W., Knapp,M., Walsh,S., Tonasso,L., Holt,J., Kayser,M., Appleby,J., Forster,P., Ekserdjian,D., Hofreiter,M. and Schurer,K.

Nat Commun 5, 5631 (2014) Publication Status: Online-Only

Impact of the mitochondrial genetic background in complex III deficiency

Gil Borlado,M.C., Moreno Lastres,D., Gonzalez Hoyuela,M., Moran,M., Blazquez,A., Pello,R., Marin Buera,L., Gabaldon,T., Garcia Penas,J.J., Martin,M.A., Arenas,J. and Ugalde,C.

PLoS ONE 5 (9), E12801 (2010) Publication Status: Online-Only

The genetic legacy of the pre-colonial period in contemporary bolivians

Taboada-Echalar,P., Alvarez-Iglesias,V., Heinz,T., Vidal-Bralo,L., Gomez-Carballa,A., Catelli,L., Pardo-Seco,J., Pastoriza,A., Carracedo,A., Torres-Balanza,A., Rocabado,O., Vullo,C. and Salas,A.

PLoS ONE 8 (3), E58980 (2013) Publication Status: Online-Only

Meta-Analysis of Mitochondrial DNA Variation in the Iberian Peninsula

Barral-Arca,R., Pischedda,S., Gomez-Carballa,A., Pastoriza,A., Mosquera-Miguel,A., Lopez-Soto,M., Martinon-Torres,F., Alvarez-Iglesias,V. and Salas,A.

PLoS ONE 11 (7), E0159735 (2016) Publication Status: Online-Only

Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups

Starikovskaya,E.B., Sukernik,R.I., Derbeneva,O.A., Volodko,N.V., Ruiz-Pesini,E., Torroni,A., Brown,M.D., Lott,M.T., Hosseini,S.H., Huoponen,K. and Wallace,D.C.

Ann. Hum. Genet. 69 (PT 1), 67-89 (2005)

Ancient mtDNA sequences from the First Australians revisited

Heupink,T.H., Subramanian,S., Wright,J.L., Endicott,P., Westaway,M.C., Huynen,L., Parson,W., Millar,C.D., Willerslev,E. and Lambert,D.M.

Proc. Natl. Acad. Sci. U.S.A. 113 (25), 6892-6897 (2016)

Climate change and postglacial human dispersals in southeast Asia

Soares,P., Trejaut,J.A., Loo,J.H., Hill,C., Mormina,M., Lee,C.L., Chen,Y.M., Hudjashov,G., Forster,P., Macaulay,V., Bulbeck,D., Oppenheimer,S., Lin,M. and Richards,M.B.

Mol. Biol. Evol. 25 (6), 1209-1218 (2008)

Mitochondrial DNA polymorphisms are associated with the longevity in the Guangxi Bama population of China

Yang,X., Wang,X., Yao,H., Deng,J., Jiang,Q., Guo,Y., Lan,G., Liao,D.J. and Jiang,H.

Mol. Biol. Rep. 39 (9), 9123-9131 (2012)

Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C

Yu,D., Jia,X., Zhang,A.M., Li,S., Zou,Y., Zhang,Q. and Yao,Y.G.

PLoS ONE 5 (10), E13426 (2010) Publication Status: Online-Only

Mosaic maternal ancestry in the Great Lakes region of East Africa

Gomes,V., Pala,M., Salas,A., Alvarez-Iglesias,V., Amorim,A., Gomez-Carballa,A., Carracedo,A., Clarke,D.J., Hill,C., Mormina,M., Shaw,M.A., Dunne,D.W., Pereira,R., Pereira,V., Prata,M.J., Sanchez-Diz,P., Rito,T., Soares,P., Gusmao,L. and Richards,M.B.

Hum. Genet. (2015) In press Publication Status: Available-Online prior to print

Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge

Garcia,O., Fregel,R., Larruga,J.M., Alvarez,V., Yurrebaso,I., Cabrera,V.M. and Gonzalez,A.M.

Heredity 106 (1), 37-45 (2011)

A South American Prehistoric Mitogenome: Context, Continuity, and the Origin of Haplogroup C1d

Sans,M., Figueiro,G., Hughes,C.E., Lindo,J., Hidalgo,P.C. and Malhi,R.S.

PLoS ONE 10 (10), E0141808 (2015) Publication Status: Online-Only

Ancient mitochondrial M haplogroups identified in the Southwest Pacific

Merriwether,D.A., Hodgson,J.A., Friedlaender,F.R., Allaby,R., Cerchio,S., Koki,G. and Friedlaender,J.S.

Proc. Natl. Acad. Sci. U.S.A. 102 (37), 13034-13039 (2005) Erratum:[Proc Natl Acad Sci U S A. 2005 Nov 15;102(46)16904]

Sephardic signature in haplogroup T mitochondrial DNA

Bedford,F.L.

Eur. J. Hum. Genet. 20 (4), 441-448 (2012)

A missense MT-ND5 mutation in differentiated Parkinson Disease cytoplasmic hybrid induces ROS-dependent DNA Damage Response amplified by DROSHA

Pignataro,D., Francia,S., Zanetta,F., Brenna,G., Brandini,S., Olivieri,A., Torroni,A., Biamonti,G. and Montecucco,A.

Sci Rep 7 (1), 9528 (2017) Publication Status: Online-Only

Philippine mitochondrial DNA diversity: a populated viaduct between Taiwan and Indonesia?

Tabbada,K.A., Trejaut,J., Loo,J.H., Chen,Y.M., Lin,M., Mirazon-Lahr,M., Kivisild,T. and De Ungria,M.C.

Mol. Biol. Evol. 27 (1), 21-31 (2010)

Genetic uniqueness of the Waorani tribe from the Ecuadorian Amazon

Cardoso,S., Alfonso-Sanchez,M.A., Valverde,L., Sanchez,D., Zarrabeitia,M.T., Odriozola,A., Martinez-Jarreta,B. and de Pancorbo,M.M.

Heredity (Edinb) 108 (6), 609-615 (2012)

Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes

Macaulay,V., Hill,C., Achilli,A., Rengo,C., Clarke,D., Meehan,W., Blackburn,J., Semino,O., Scozzari,R., Cruciani,F., Taha,A., Shaari,N.K., Raja,J.M., Ismail,P., Zainuddin,Z., Goodwin,W., Bulbeck,D., Bandelt,H.J., Oppenheimer,S., Torroni,A. and Richards,M.

Science 308 (5724), 1034-1036 (2005)

Data from complete mtDNA sequencing of Tunisian centenarians: testing haplogroup association and the 'golden mean' to longevity

Costa,M.D., Cherni,L., Fernandes,V., Freitas,F., Ammar El Gaaied,A.B. and Pereira,L.

Mech. Ageing Dev. 130 (4), 222-226 (2009)

Maternal DNA lineages at the gate of Europe in the 10th century AD

Rusu,I., Modi,A., Vai,S., Pilli,E., Mircea,C., Radu,C., Urduzia,C., Pinter,Z.K., Bodolica,V., Dobrinescu,C., Hervella,M., Popescu,O., Lari,M., Caramelli,D. and Kelemen,B.

PLoS ONE 13 (3), e0193578 (2018) Publication Status: Online-Only

Pleistocene-Holocene boundary in Southern Arabia from the perspective of human mtDNA variation

Al-Abri,A., Podgorna,E., Rose,J.I., Pereira,L., Mulligan,C.J., Silva,N.M., Bayoumi,R., Soares,P. and Cerny,V.

Am. J. Phys. Anthropol. (2012) In press Publication Status: Available-Online prior to print

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

Wang,H.W., Jia,X., Ji,Y., Kong,Q.P., Zhang,Q., Yao,Y.G. and Zhang,Y.P.

Mutat. Res. 643 (1-2), 48-53 (2008)

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

Protasova,M., Grigorenko,A., Tyazhelova,T., Andreeva,T., Reshetov,D., Gusev,F., Laptenko,A., Kuznetsova,I., Goltsov,A., Klyushnikov,S., Illarioshkin,S. and Rogaev,E.

Eur. J. Hum. Genet. (2015) In press Publication Status: Available-Online prior to print

Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation

Yang,J., Zhu,Y., Tong,Y., Chen,L., Liu,L., Zhang,Z., Wang,X., Huang,D., Qiu,W., Zhuang,S. and Ma,X.

Biochem. Biophys. Res. Commun. 386 (1), 50-54 (2009)

Uncovering the sources of DNA found on the Turin Shroud

Barcaccia,G., Galla,G., Achilli,A., Olivieri,A. and Torroni,A.

Sci Rep 5, 14484 (2015) Publication Status: Online-Only

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Annunen-Rasila,J., Finnila,S., Mykkanen,K., Moilanen,J.S., Veijola,J., Poyhonen,M., Viitanen,M., Kalimo,H. and Majamaa,K.

Neurogenetics 7 (3), 185-194 (2006) Erratum:[Neurogenetics. 2006 Nov;7(4):281]

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases

Strobbe,D., Caporali,L., Iommarini,L., Maresca,A., Montopoli,M., Martinuzzi,A., Achilli,A., Olivieri,A., Torroni,A., Carelli,V. and Ghelli,A.

Neurobiol. Dis. (2018) In press Publication Status: Available-Online prior to print

Mitochondrial DNA evidence supports northeast Indian origin of the aboriginal Andamanese in the Late Paleolithic

Wang,H.W., Mitra,B., Chaudhuri,T.K., Palanichamy,M.G., Kong,Q.P. and Zhang,Y.P.

J Genet Genomics 38 (3), 117-122 (2011)

Two contemporaneous mitogenomes from terminal Pleistocene burials in eastern Beringia

Tackney,J.C., Potter,B.A., Raff,J., Powers,M., Watkins,W.S., Warner,D., Reuther,J.D., Irish,J.D. and O'Rourke,D.H.

Proc. Natl. Acad. Sci. U.S.A. (2015) In press Publication Status: Available-Online prior to print

Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy

Bi,R., Zhang,A.M., Jia,X., Zhang,Q. and Yao,Y.G.

Mol. Vis. 18, 3087-3094 (2012) Publication Status: Online-Only

Analysis of mitochondrial DNA diversity in the aleuts of the commander islands and its implications for the genetic history of beringia

Derbeneva,O.A., Sukernik,R.I., Volodko,N.V., Hosseini,S.H., Lott,M.T. and Wallace,D.C.

Am. J. Hum. Genet. 71 (2), 415-421 (2002)

In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq

Al-Zahery,N., Pala,M., Battaglia,V., Grugni,V., Hamod,M.A., Kashani,B.H., Olivieri,A., Torroni,A., Santachiara-Benerecetti,A.S. and Semino,O.

BMC Evol. Biol. 11, 288 (2011) Publication Status: Online-Only

Unpublished

Migration and Interaction in a Contact Zone: mtDNA Variation among Bantu-Speakers in Southern Africa

Barbieri,C., Vicente,M., Oliveira,S., Bostoen,K., Rocha,J., Stoneking,M. and Pakendorf,B.

PLoS ONE 9 (6), E99117 (2014) Publication Status: Online-Only

Contrasting maternal and paternal histories in the linguistic context of burkina faso

Barbieri,C., Whitten,M., Beyer,K., Schreiber,H., Li,M. and Pakendorf,B.

Mol. Biol. Evol. 29 (4), 1213-1223 (2012)

Ancient substructure in early mtDNA lineages of southern Africa

Barbieri,C., Vicente,M., Rocha,J., Mpoloka,S.W., Stoneking,M. and Pakendorf,B.

Am. J. Hum. Genet. 92 (2), 285-292 (2013)

Mitochondrial haplogroup C4c: a rare lineage entering America through the ice-free corridor?

Hooshiar Kashani,B., Perego,U.A., Olivieri,A., Angerhofer,N., Gandini,F., Carossa,V., Lancioni,H., Semino,O., Woodward,S.R., Achilli,A. and Torroni,A.

Am. J. Phys. Anthropol. 147 (1), 35-39 (2012)

The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor

Brucato,N., Fernandes,V., Mazieres,S., Kusuma,P., Cox,M.P., Ng'ang'a,J.W., Omar,M., Simeone-Senelle,M.C., Frassati,C., Alshamali,F., Fin,B., Boland,A., Deleuze,J.F., Stoneking,M., Adelaar,A., Crowther,A., Boivin,N., Pereira,L., Bailly,P., Chiaroni,J. and Ricaut,F.X.

Am. J. Hum. Genet. 102 (1), 58-68 (2018)

Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations

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. and Zhang,Y.P.

Hum. Mol. Genet. 15 (13), 2076-2086 (2006)

Unraveling the complex maternal history of Southern African Khoisan populations

Barbieri,C., Guldemann,T., Naumann,C., Gerlach,L., Berthold,F., Nakagawa,H., Mpoloka,S.W., Stoneking,M. and Pakendorf,B.

Am. J. Phys. Anthropol. (2013) In press Publication Status: Available-Online prior to print

Genetic affinities of the central Indian tribal populations

Sharma,G., Tamang,R., Chaudhary,R., Singh,V.K., Shah,A.M., Anugula,S., Rani,D.S., Reddy,A.G., Eaaswarkhanth,M., Chaubey,G., Singh,L. and Thangaraj,K.

PLoS ONE 7 (2), E32546 (2012) Publication Status: Online-Only

Sequencing strategy for the whole mitochondrial genome resulting in high quality sequences

Fendt,L., Zimmermann,B., Daniaux,M. and Parson,W.

BMC Genomics 10, 139 (2009) Publication Status: Online-Only

Analysis of mitochondrial genome diversity identifies new and ancient maternal lineages in Cambodian aborigines

Zhang,X., Qi,X., Yang,Z., Serey,B., Sovannary,T., Bunnath,L., Seang Aun,H., Samnom,H., Zhang,H., Lin,Q., van Oven,M., Shi,H. and Su,B.

Nat Commun 4, 2599 (2013) Publication Status: Online-Only

Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs

Malyarchuk,B.A., Derenko,M., Perkova,M., Grzybowski,T., Vanecek,T. and Lazur,J.

Eur. J. Hum. Genet. 16 (9), 1091-1096 (2008)

Accumulation of mutations over the entire mitochondrial genome of breast cancer cells obtained by tissue microdissection

Fendt,L., Niederstatter,H., Huber,G., Zelger,B., Dunser,M., Seifarth,C., Rock,A., Schafer,G., Klocker,H. and Parson,W.

Breast Cancer Res. Treat. (2010) In press Publication Status: Available-Online prior to print

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy

Achilli,A., Iommarini,L., Olivieri,A., Pala,M., Hooshiar Kashani,B., Reynier,P., La Morgia,C., Valentino,M.L., Liguori,R., Pizza,F., Barboni,P., Sadun,F., De Negri,A.M., Zeviani,M., Dollfus,H., Moulignier,A., Ducos,G., Orssaud,C., Bonneau,D., Procaccio,V., Leo-Kottler,B., Fauser,S., Wissinger,B., Amati-Bonneau,P., Torroni,A. and Carelli,V.

PLoS ONE 7 (8), E42242 (2012) Publication Status: Online-Only

Inland post-glacial dispersal in East Asia revealed by mitochondrial haplogroup M9a'b

Peng,M.S., Palanichamy,M.G., Yao,Y.G., Mitra,B., Cheng,Y.T., Zhao,M., Liu,J., Wang,H.W., Pan,H., Wang,W.Z., Zhang,A.M., Zhang,W., Wang,D., Zou,Y., Yang,Y., Chaudhuri,T.K., Kong,Q.P. and Zhang,Y.P.

BMC Biol. 9, 2 (2011) Publication Status: Online-Only

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

Gomez-Duran,A., Pacheu-Grau,D., Lopez-Gallardo,E., Diez-Sanchez,C., Montoya,J., Lopez-Perez,M.J. and Ruiz-Pesini,E.

Hum. Mol. Genet. 19 (17), 3343-3353 (2010)

Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes

Gomez-Carballa,A., Cerezo,M., Balboa,E., Heredia,C., Castro-Feijoo,L., Rica,I., Barreiro,J., Eiris,J., Cabanas,P., Martinez-Soto,I., Fernandez-Toral,J., Castro-Gago,M., Pombo,M., Carracedo,A., Barros,F. and Salas,A.

PLoS ONE 6 (4), E18348 (2011) Publication Status: Online-Only

Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma

Kloss-Brandstatter,A., Weissensteiner,H., Erhart,G., Schafer,G., Forer,L., Schonherr,S., Pacher,D., Seifarth,C., Stockl,A., Fendt,L., Sottsas,I., Klocker,H., Huck,C.W., Rasse,M., Kronenberg,F. and Kloss,F.R.

PLoS ONE 10 (8), E0135643 (2015) Publication Status: Online-Only

Tracing the legacy of the early Hainan Islanders - a perspective from mitochondrial DNA

Peng,M.S., He,J.D., Liu,H.X. and Zhang,Y.P.

BMC Evol. Biol. 11, 46 (2011) Publication Status: Online-Only