David Samuels’ peer-reviewed publications on mitochondrial DNA inheritance

Links to full text are in the journal names

 

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

Julie Steffan, Nadine Gigarel, David C. Samuels, Sophie Monnot, Roxana Borghese, Laetitia Hesters, Nelly Frydman, Philippe Burlet, Rene Frydman, Alexandra Benachi, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont (2014) Cell Reports 7(4) 933-934

 

Mutation dependence of the mitochondrial DNA copy number in the first stages of human embryogenesis

Sophie Monnot, David C. Samuels, Laetitia Hesters, Nelly Frydman, Nadine Gigeral, Philippe Burlet, Violaine Kerbrat, Frederic Lamazou, Rene Frydman, Alexandra Benachi, Josue Feingold, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont and Julie Steffann (2013), Human Molecular Genetics, 22 (9) 1867-1872.

 

Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?

David C. Samuels, Passorn Wonnapinij, Patrick F. Chinnery (2013) Human Reproduction 28(3), 554-559. PMC3571501

 

Universal heteroplasmy of human mitochondrial DNA

Brendan A. I. Payne, Ian J. Wilson, Patrick Yu-Wai-Man, Jon Coxhead, David Deehan, Rita Horvath, Robert W. Taylor, David C. Samuels, Mauro Santibanez-Koref, and Patrick F. Chinnery. (2013) Human Molecular Genetics 22(2) 384-390. PMC3526165

 

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

Christoph Freyer, Lynsey M Cree, Arnoud Mourier, James B Stewart, Camilla Koolmeister, Dusanka Milenkovac, David C Samuels, Nils-Goran Larsson, Patrick F Chinnery (2012), Nature Genetics (44) 1282-1285. PMC3492742

 

Unique mitochondrial DNA in highly inbred feral cattle

G. Hudson, I. Wilson, B.I.A. Payne, J. Elson, D.C. Samuels, M.Santibanez-Korev, S.J.G. Hall, P.F. Chinnery (2012), Mitochondrion 12, 438-440.

 

The use of next-generation sequencing technology to study the effect of radiation therapy on mitochondrial DNA mutation

Y. Guo, Q. Cai, D.C. Samuels, F. Ye, J. Long, C.-I. Li, J.F. Winther, E.J. Tawn, M. Stovall, P. Lahteenmaki, N. Malia, S. Levy, C. Shaffer, Y. Shyr, X. Shu, J.D. Boice Jr (2012) Mutation Research – Genetic Toxicology and Environmental Mutagenesis 744, 154-160. PMC3354959

 

Poor Correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans

N. Gigarel, L. Hester, D.C. Samuels, S. Monnot, P. Burlet, V. Kerbrat, F. Lamazou, A. Benachi, R. Frydman, J. Feingold, A. Rotig, A. Munnich, J.P. Bonnefont, N. Frydman, J. Steffann (2011) American Journal of Human Genetics 88, 494-498.

 

Segregation of mtDNA throughout human embryofetal development: m3243A>G as a model system

S. Monnot, N. Gigarel, D.C. Samuels, P. Burlet, L. Hesters, N. Frydman, R. Frydman, V. Kerbrat, B. Funalot, J. Martinovic, A. Benachi, J. Feingold, A. Munnich, J-P. Bonnefont, J. Steffann. (2011) Human Mutation 32(1), 116-125. PMC3058134.

 

Reassessing evidence for a postnatal mitochondrial genetic bottleneck

D.C. Samuels, P. Wonnapinij, L.M. Cree, P.F. Chinnery, (2010), Nature Genetics 42(6), 471-472. PMID:20502486.

 

Information for genetic management of mtDNA disease: Sampling pathogenic mtDNA mutants in the human germline and in placenta

D.R. Marchington, S. Malik, A. Banerjee, K, Turner, D. Samuels, V. Macauley, P Oakeshott, C. Fratter, S.H. Kennedy, J. Poulton (2010) Journal of Medical Genetics, 47, 257-261.

 

Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: Comparing the mtDNA genetic bottleneck in mice and humans

P. Wonnapinij, P.F. Chinnery, D.C. Samuels (2010), American Journal of Human Genetics 86(4) 540-550. PMC2850432.

 

The diversity present in 5140 human mitochondrial genomes

L. Pereira, F. Freitas, V. Fernandes, J.B. Pereira, M.D. Costa, S. Costa, V. Maximo, V. Macaulay, R. Rocha, D.C. Samuels (2009) American Journal of Human Genetics 84 (5) 628-640. PMC2681004.

 

The inheritance of pathogenic mitochondrial DNA mutations

L.M. Cree, D.C. Samuels, P.F. Chinnery (2009) Biochemica et Biophysica Acta – Molecular Basis of Disease 1792 (12), 1097-1102. PMC2785871.

 

The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift

P. Wonnapinij, P.F. Chinnery, D.C. Samuels (2008), American Journal of Human Genetics 83: 582-593. PubMed PMID:18976726; PMC2668051.

 

Pathogenic mitochondrial DNA mutations are common in the general public

H.R. Elliot, D.C. Samuels, J.A. Eden, C.L. Relton, P.F. Chinnery (2008). American Journal of Human Genetics 83: 254-260. PMC2495064.

 

A reduction in the number of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

L.M. Cree, D.C. Samuels, S.C. de Sousa-Lopes, H.K. Rajasimha, P. Wonnapinij, J.R. Mann, H.H.M. Dahl, P.F. Chinnery (2008) Nature Genetics 40 (2): 249-254. PMID:18223651.

 

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A>G mutation in blood

H.K. Rajasimha, P.F. Chinnery, D.C. Samuels (2008), American Journal of Human Genetics 82: 333-343. PMC2427290.

 

Random genetic drift determines the level of mutant mitochondrial DNA in human primary oocytes

D.T. Brown, D.C. Samuels, E.M. Michael, D.M. Turnbull, P.F. Chinnery (2001), American Journal of Human Genetics 68: 533-536. PMC1235288.

 

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

P.F. Chinnery, D.R. Thorburn, D.C. Samuels, S.L. White, H.H.M. Dahl, D.M. Turnbull, R.N. Lightowlers, N. Howell (2000) Trends in Genetics 16: 500-505. PMID:11074292.