Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

High-resolution profiles of gene expression and DNA methylation highlight mitochondrial modifications during early embryonic development

(2017) Likun REN et al.   JOURNAL OF REPRODUCTION AND DEVELOPMENT

Pleistocene Mitochondrial Genomes Suggest a Single Major Dispersal of Non-Africans and a Late Glacial Population Turnover in Europe

(2016) Cosimo Posth et al.   CURRENT BIOLOGY

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing

(2016) Hansi Weissensteiner et al.   NUCLEIC ACIDS RESEARCH

CpG methylation patterns of human mitochondrial DNA

(2016) Baojing Liu et al.   Scientific Reports

A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development

(2015) Walfred W.C. Tang et al.   CELL

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

(2012) Doron M. Behar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

(2012) Gavin Hudson et al.   ANNALS OF THE RHEUMATIC DISEASES

Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity

(2011) Luísa Pereira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HmtDB, a genomic resource for mitochondrion-based human variability studies

(2011) Francesco Rubino et al.   NUCLEIC ACIDS RESEARCH

Accuracy of Molecular Dating with the Rho Statistic: Deviations from Coalescent Expectations Under a Range of Demographic Models

(2010) Murray P. Cox   HUMAN BIOLOGY

The Diversity Present in 5140 Human Mitochondrial Genomes

(2009) Luísa Pereira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

(2008) James Bruce Stewart et al.   PLOS BIOLOGY