A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

mit-o-matic: A Comprehensive Computational Pipeline for Clinical Evaluation of Mitochondrial Variations from Next-Generation Sequencing Datasets

(2015) Shamsudheen Karuthedath Vellarikkal et al.   HUMAN MUTATION

mixtools: AnRPackage for Analyzing Finite Mixture Models

(2015) Tatiana Benaglia et al.   Journal of Statistical Software

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

(2014) Claudia Calabrese et al.   BIOINFORMATICS

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

(2014) Maria Angela Diroma et al.   BMC GENOMICS

MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants

(2014) Stefano Castellana et al.   HUMAN MUTATION

WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation

(2013) Emidio Capriotti et al.   BMC GENOMICS

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

(2013) Cecilia Mancini et al.   BMC Medical Genomics

Mitochondrial genetics

(2013) P. F. Chinnery et al.   BRITISH MEDICAL BULLETIN

Hereditary mtDNA Heteroplasmy: A Baseline for Aging?

(2013) Michael Keogh et al.   Cell Metabolism

Alzheimer Disease and Diabetes Mellitus: Do They have Anything in Common?

(2013) Ernest Adeghate et al.   Current Alzheimer Research

Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment

(2013) Luisa Iommarini et al.   HUMAN MOLECULAR GENETICS

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

(2013) Sylvie Bannwarth et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families

(2013) Juanjuan Zhang et al.   MITOCHONDRION

Building Phylogenetic Trees from Molecular Data with MEGA

(2013) B. G. Hall   MOLECULAR BIOLOGY AND EVOLUTION

Mitochondria and Cancer: Past, Present, and Future

(2013) M. L. Verschoor et al.   Biomed Research International

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

(2012) Doron M. Behar 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

The neglected genome

(2012) Graziano Pesole et al.   EMBO REPORTS

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

Somatic complex I disruptive mitochondrial DNA mutations are modifiers of tumorigenesis that correlate with low genomic instability in pituitary adenomas

(2012) I. Kurelac et al.   HUMAN MOLECULAR GENETICS

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

(2012) Elizabeth McCormick et al.   Neurotherapeutics

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

(2012) Alessandro Achilli et al.   PLoS One

Identification of Novel Type 2 Diabetes Candidate Genes Involved in the Crosstalk between the Mitochondrial and the Insulin Signaling Systems

(2012) Josep M. Mercader et al.   PLoS Genetics

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

Somatic alterations in mitochondrial DNA produce changes in cell growth and metabolism supporting a tumorigenic phenotype

(2011) Jana Jandova et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Searching for a needle in the haystack: Comparing six methods to evaluate heteroplasmy in difficult sequence context

(2011) Ivana Kurelac et al.   BIOTECHNOLOGY ADVANCES

The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

(2011) Domenico Simone et al.   BMC GENOMICS

A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function

(2011) G. Gasparre et al.   CANCER RESEARCH

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

(2011) Francesco Rubino et al.   NUCLEIC ACIDS RESEARCH

Uncovering the Profile of Somatic mtDNA Mutations in Chinese Colorectal Cancer Patients

(2011) Cheng-Ye Wang et al.   PLoS One

Was North Africa the Launch Pad for Modern Human Migrations?

(2011) M. Balter   SCIENCE

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families

(2010) Juanjuan Zhang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The Role of Mitochondria in the Pathogenesis of Type 2 Diabetes

(2010) Mary-Elizabeth Patti et al.   ENDOCRINE REVIEWS

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

The Neuro-ophthalmology of Mitochondrial Disease

(2010) J. Alexander Fraser et al.   SURVEY OF OPHTHALMOLOGY

Leber’s hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation

(2009) Fuxin Zhao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease

(2009) Anshu Bhardwaj et al.   BMC BIOINFORMATICS

The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization

(2009) Anna Maria Porcelli et al.   HUMAN MOLECULAR GENETICS

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity

(2009) Anna Ghelli et al.   PLoS One

Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women

(2008) Veronica Wendy Setiawan et al.   CANCER GENETICS AND CYTOGENETICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION