Fine Time Scaling of Purifying Selection on Human Nonsynonymous mtDNA Mutations Based on the Worldwide Population Tree and Mother-Child Pairs

Genetic Stratigraphy of Key Demographic Events in Arabia

(2015) Verónica Fernandes et al.   PLoS One

Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations

(2014) Wenqing Fu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA

(2014) Kristian Gardner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reply to Just et al.: Mitochondrial DNA heteroplasmy could be reliably detected with massively parallel sequencing technologies

(2014) K. Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Questioning the prevalence and reliability of human mitochondrial DNA heteroplasmy from massively parallel sequencing data

(2014) R. S. Just et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals

(2014) K. Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Genetic Atlas of Human Admixture History

(2014) G. Hellenthal et al.   SCIENCE

Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential

(2014) Luísa Pereira et al.   Scientific Reports

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

(2014) Young Seok Ju et al.   eLife

A Highly Unstable Recent Mutation in Human mtDNA

(2013) Ana T. Duggan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The influence of genomic context on mutation patterns in the human genome inferred from rare variants

(2013) V. M. Schaibley et al.   GENOME RESEARCH

mtDNA Lineage Expansions in Sherpa Population Suggest Adaptive Evolution in Tibetan Highlands

(2013) Longli Kang et al.   MOLECULAR BIOLOGY AND EVOLUTION

Evaluating Purifying Selection in the Mitochondrial DNA of Various Mammalian Species

(2013) Pedro Soares et al.   PLoS One

The First Modern Human Dispersals across Africa

(2013) Teresa Rito et al.   PLoS One

Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage

(2013) Scott R. Kennedy et al.   PLoS Genetics

Somatic mtDNA Mutation Spectra in the Aging Human Putamen

(2013) Siôn L. Williams et al.   PLoS Genetics

Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia

(2012) Maria Pala et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Luísa Pereira et al.   BMC CANCER

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Mitochondrial genomes gleaned from human whole-exome sequencing

(2012) Ernesto Picardi et al.   NATURE METHODS

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

The Expansion of mtDNA Haplogroup L3 within and out of Africa

(2011) P. Soares et al.   MOLECULAR BIOLOGY AND EVOLUTION

A Twin Study of Mitochondrial DNA Polymorphisms Shows that Heteroplasmy at Multiple Sites Is Associated with mtDNA Variant 16093 but Not with Zygosity

(2011) Toby Andrew et al.   PLoS One

The Archaeogenetics of Europe

(2010) Pedro Soares et al.   CURRENT BIOLOGY

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups

(2010) Anita Kloss-Brandstätter et al.   HUMAN MUTATION

The Diversity Present in 5140 Human Mitochondrial Genomes

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

Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock

(2009) Pedro Soares et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Explaining the Imperfection of the Molecular Clock of Hominid Mitochondria

(2009) Eva-Liis Loogväli et al.   PLoS One

The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift

(2008) Passorn Wonnapinij 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

Evidence for Variable Selective Pressures at a Large Secondary Structure of the Human Mitochondrial DNA Control Region

(2008) F. Pereira et al.   MOLECULAR BIOLOGY AND EVOLUTION

Climate Change and Postglacial Human Dispersals in Southeast Asia

(2008) P. Soares et al.   MOLECULAR BIOLOGY AND EVOLUTION

mtDNA Variation Predicts Population Size in Humans and Reveals a Major Southern Asian Chapter in Human Prehistory

(2007) Q. D. Atkinson et al.   MOLECULAR BIOLOGY AND EVOLUTION