What causes mitochondrial DNA deletions in human cells?
Krishnan, Kim J, Reeve, Amy K, Samuels, David C, Chinnery, Patrick F, Blackwood, John K, Taylor, Robert W, Wanrooij, Sjoerd, Spelbrink, Johannes N, Lightowlers, Robert N, Turnbull, Doug M
Published in Nature genetics (01.03.2008)
Published in Nature genetics (01.03.2008)
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Journal Article
Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity
Pereira, Luísa, Soares, Pedro, Radivojac, Predrag, Li, Biao, Samuels, David C.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Journal Article
Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission
Freyer, Christoph, Cree, Lynsey M, Mourier, Arnaud, Stewart, James B, Koolmeister, Camilla, Milenkovic, Dusanka, Wai, Timothy, Floros, Vasileios I, Hagström, Erik, Chatzidaki, Emmanouella E, Wiesner, Rudolf J, Samuels, David C, Larsson, Nils-Göran, Chinnery, Patrick F
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Journal Article
OSBPL10, RXRA and lipid metabolism confer African-ancestry protection against dengue haemorrhagic fever in admixed Cubans
Sierra, Beatriz, Triska, Petr, Soares, Pedro, Garcia, Gissel, Perez, Ana B, Aguirre, Eglys, Oliveira, Marisa, Cavadas, Bruno, Regnault, Béatrice, Alvarez, Mayling, Ruiz, Didye, Samuels, David C, Sakuntabhai, Anavaj, Pereira, Luisa, Guzman, Maria G
Published in PLoS pathogens (27.02.2017)
Published in PLoS pathogens (27.02.2017)
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Journal Article
Somatic mitochondrial DNA mutations in cancer escape purifying selection and high pathogenicity mutations lead to the oncocytic phenotype: pathogenicity analysis of reported somatic mtDNA mutations in tumors
Pereira, Luísa, Soares, Pedro, Máximo, Valdemar, Samuels, David C
Published in BMC cancer (02.02.2012)
Published in BMC cancer (02.02.2012)
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Journal Article
The Diversity Present in 5140 Human Mitochondrial Genomes
Pereira, Luísa, Freitas, Fernando, Fernandes, Verónica, Pereira, Joana B., Costa, Marta D., Costa, Stephanie, Máximo, Valdemar, Macaulay, Vincent, Rocha, Ricardo, Samuels, David C.
Published in American journal of human genetics (15.05.2009)
Published in American journal of human genetics (15.05.2009)
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Journal Article
Mitochondrial DNA mutations in human colonic crypt stem cells
Taylor, Robert W., Barron, Martin J., Borthwick, Gillian M., Gospel, Amy, Chinnery, Patrick F., Samuels, David C., Taylor, Geoffrey A., Plusa, Stefan M., Needham, Stephanie J., Greaves, Laura C., Kirkwood, Thomas B.L., Turnbull, Douglass M.
Published in The Journal of clinical investigation (01.11.2003)
Published in The Journal of clinical investigation (01.11.2003)
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Journal Article
Evaluating purifying selection in the mitochondrial DNA of various mammalian species
Soares, Pedro, Abrantes, Diogo, Rito, Teresa, Thomson, Noel, Radivojac, Predrag, Li, Biao, Macaulay, Vincent, Samuels, David C, Pereira, Luísa
Published in PloS one (22.03.2013)
Published in PloS one (22.03.2013)
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Journal Article
Two direct repeats cause most human mtDNA deletions
Samuels, David C., Schon, Eric A., Chinnery, Patrick F.
Published in Trends in genetics (01.09.2004)
Published in Trends in genetics (01.09.2004)
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Journal Article
Fine Time Scaling of Purifying Selection on Human Nonsynonymous mtDNA Mutations Based on the Worldwide Population Tree and Mother–Child Pairs
Cavadas, Bruno, Soares, Pedro, Camacho, Rui, Brandão, Andreia, Costa, Marta D., Fernandes, Verónica, Pereira, Joana B., Rito, Teresa, Samuels, David C., Pereira, Luisa
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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Journal Article
Nuclear-Mitochondrial interactions influence susceptibility to HIV-associated neurocognitive impairment
Smieszek, S, Jia, P, Samuels, D C, Zhao, Z, Barnholtz-Sloan, J, Kaur, H, Letendre, S, Ellis, R, Franklin, D R, Hulgan, T, Kallianpur, A, Bush, W S
Published in Mitochondrion (01.05.2019)
Published in Mitochondrion (01.05.2019)
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Journal Article
The Power to Detect Disease Associations with Mitochondrial DNA Haplogroups
Samuels, David C., Carothers, Andrew D., Horton, Robin, Chinnery, Patrick F.
Published in American journal of human genetics (01.04.2006)
Published in American journal of human genetics (01.04.2006)
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Journal Article
Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age
Elson, J.L., Samuels, D.C., Turnbull, D.M., Chinnery, P.F.
Published in American journal of human genetics (01.03.2001)
Published in American journal of human genetics (01.03.2001)
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Journal Article
Sound emission due to superfluid vortex reconnections
Leadbeater, M, Winiecki, T, Samuels, D C, Barenghi, C F, Adams, C S
Published in Physical review letters (19.02.2001)
Published in Physical review letters (19.02.2001)
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Journal Article
Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential
Pereira, Luísa, Soares, Pedro, Triska, Petr, Rito, Teresa, van der Waerden, Agnes, Li, Biao, Radivojac, Predrag, Samuels, David C.
Published in Scientific reports (21.11.2014)
Published in Scientific reports (21.11.2014)
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Journal Article
Evidence for Variable Selective Pressures at a Large Secondary Structure of the Human Mitochondrial DNA Control Region
Pereira, Filipe, Soares, Pedro, Carneiro, João, Pereira, Luísa, Richards, Martin B., Samuels, David C., Amorim, António
Published in Molecular biology and evolution (01.12.2008)
Published in Molecular biology and evolution (01.12.2008)
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Journal Article
Relaxed Replication of mtDNA: A Model with Implications for the Expression of Disease
Chinnery, Patrick F., Samuels, David C.
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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