On the public citation graph

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans

0 signed · 86 inferred · view as graph

Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.

Is this your work? Sign in with ORCID and put your name on the claims that are yours.

Claim with ORCID

Reference health. See whether every reference in this work resolves to a known work and none has been retracted — and get a dated CiteStamped badge you can embed.

See reference health

What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/0471250953.bi0123s44openalex-snapshot

mtDNA Variation and Analysis Using Mitomap and Mitomaster

inferredcites →https://doi.org/10.1002/ajmg.a.20135openalex-snapshot

Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background

inferredcites →https://doi.org/10.1002/ana.21217openalex-snapshot

Prevalence of mitochondrial DNA disease in adults

inferredcites →https://doi.org/10.1002/ana.24362openalex-snapshot

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

inferredcites →https://doi.org/10.1002/humu.1380060405openalex-snapshot

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

inferredcites →https://doi.org/10.1002/humu.20921openalex-snapshot

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

inferredcites →https://doi.org/10.1016/j.cell.2020.02.051openalex-snapshot

Mitochondrial Diseases: Hope for the Future

inferredcites →https://doi.org/10.1016/j.cmet.2014.07.001openalex-snapshot

Making Proteins in the Powerhouse

inferredcites →https://doi.org/10.1016/j.mito.2015.08.004openalex-snapshot

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease

inferredcites →https://doi.org/10.1016/s0140-6736(02)11310-9openalex-snapshot

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

inferredcites →https://doi.org/10.1038/13779openalex-snapshot

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

inferredcites →https://doi.org/10.1038/290457a0openalex-snapshot

Sequence and organization of the human mitochondrial genome

inferredcites →https://doi.org/10.1038/35057062openalex-snapshot

Initial sequencing and analysis of the human genome

inferredcites →https://doi.org/10.1038/gim.2015.30openalex-snapshot

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

inferredcites →https://doi.org/10.1038/gim.2017.26openalex-snapshot

Using high-resolution variant frequencies to empower clinical genome interpretation

inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot

A framework for variation discovery and genotyping using next-generation DNA sequencing data

inferredcites →https://doi.org/10.1038/s41436-019-0746-0openalex-snapshot

Interpretation of mitochondrial tRNA variants

inferredcites →https://doi.org/10.1038/s41588-018-0264-zopenalex-snapshot

Mitochondrial genetic medicine

inferredcites →https://doi.org/10.1038/s41588-018-0294-6openalex-snapshot

A map of constrained coding regions in the human genome

inferredcites →https://doi.org/10.1038/s41588-019-0557-xopenalex-snapshot

Comprehensive molecular characterization of mitochondrial genomes in human cancers

inferredcites →https://doi.org/10.1038/sj.ejhg.5201828openalex-snapshot

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

inferredcites →https://doi.org/10.1086/302311openalex-snapshot

Relaxed Replication of mtDNA: A Model with Implications for the Expression of Disease

inferredcites →https://doi.org/10.1086/302902openalex-snapshot

The Mutation Rate in the Human mtDNA Control Region

inferredcites →https://doi.org/10.1086/346066openalex-snapshot

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

inferredcites →https://doi.org/10.1086/501236openalex-snapshot

Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees

inferredcites →https://doi.org/10.1093/bioinformatics/btq033openalex-snapshot

BEDTools: a flexible suite of utilities for comparing genomic features

inferredcites →https://doi.org/10.1093/hmg/ddt490openalex-snapshot

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential

inferredcites →https://doi.org/10.1093/nar/gky1024openalex-snapshot

HmtVar: a new resource for human mitochondrial variations and pathogenicity data

inferredcites →https://doi.org/10.1101/115717openalex-snapshot

The Sentieon Genomics Tools - A fast and accurate solution to variant calling from next-generation sequence data

inferredcites →https://doi.org/10.1126/science.3201231openalex-snapshot

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

inferredcites →https://doi.org/10.1126/science.aau6520openalex-snapshot

Germline selection shapes human mitochondrial DNA diversity

inferredcites →https://doi.org/10.1371/journal.pcbi.1005867openalex-snapshot

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP

inferredcites →https://doi.org/10.1371/journal.pgen.1006620openalex-snapshot

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

inferredcites →https://doi.org/10.1371/journal.pmed.1001779openalex-snapshot

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

inferredcites →https://doi.org/10.3389/fgene.2019.00736openalex-snapshot

Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

inferredcites →https://doi.org/10.6084/m9.figshare.963153.v1openalex-snapshot

Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM

inferredcites →https://doi.org/10.7554/elife.21592openalex-snapshot

Mitochondrial respiratory gene expression is suppressed in many cancers

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1002/ajmg.a.62455openalex-snapshot

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy

inferred← citeshttps://doi.org/10.1002/alz.70839openalex-snapshot

Mitochondrial haplogroups, but not heteroplasmy, are associated with midlife cognitive function

inferred← citeshttps://doi.org/10.1002/jdn.70100openalex-snapshot

No Association Between Autism Spectrum Disorder and Mitochondrial DNA Variants: A Comprehensive Genetic Study in Trakya Population

inferred← citeshttps://doi.org/10.1007/16833_2024_270openalex-snapshot

Exploring the Role of Mitochondrial DNA Mutations in Cancer Development and Diagnosis

inferred← citeshttps://doi.org/10.1007/s10048-023-00724-wopenalex-snapshot

Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families

inferred← citeshttps://doi.org/10.1007/s10048-025-00820-zopenalex-snapshot

Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up

inferred← citeshttps://doi.org/10.1016/j.fsigen.2026.103528openalex-snapshot

Reduced amplification and amplicon dropout in PCR-based mitochondrial DNA massively parallel sequencing kits

inferred← citeshttps://doi.org/10.1016/j.jare.2023.01.021openalex-snapshot

North and East African mitochondrial genetic variation needs further characterization towards precision medicine

inferred← citeshttps://doi.org/10.1016/j.mito.2024.101970openalex-snapshot

The maternal genetic history of tribal populations of Chhattisgarh, India

inferred← citeshttps://doi.org/10.1016/j.mitoco.2025.08.001openalex-snapshot

Age-related dynamics of m.189A>G and m.408T>A variants in skeletal muscle of an osteoarthritic Cohort: Connections to BMI and muscle strength

inferred← citeshttps://doi.org/10.1016/j.xhgg.2025.100441openalex-snapshot

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

inferred← citeshttps://doi.org/10.1038/s41380-023-02096-xopenalex-snapshot

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder

inferred← citeshttps://doi.org/10.1038/s41380-025-03071-4openalex-snapshot

Single-molecule DNA analysis implicates brain mitochondria pathology in bipolar disorder

inferred← citeshttps://doi.org/10.1038/s41431-021-01034-1openalex-snapshot

Variant pathogenic prediction by locus variability: the importance of the current picture of evolution

inferred← citeshttps://doi.org/10.1038/s41467-023-40797-7openalex-snapshot

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants

inferred← citeshttps://doi.org/10.1038/s41467-023-41785-7openalex-snapshot

Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

inferred← citeshttps://doi.org/10.1038/s41467-026-70399-yopenalex-snapshot

Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics

inferred← citeshttps://doi.org/10.1038/s41586-024-08048-xopenalex-snapshot

Quantifying constraint in the human mitochondrial genome

inferred← citeshttps://doi.org/10.1038/s41598-022-16164-9openalex-snapshot

Genomic analysis of a novel Neanderthal from Mezmaiskaya Cave provides insights into the genetic relationships of Middle Palaeolithic populations

inferred← citeshttps://doi.org/10.1038/s42003-024-06819-wopenalex-snapshot

Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome

inferred← citeshttps://doi.org/10.1038/s42255-021-00378-8openalex-snapshot

Respiratory complex and tissue lineage drive recurrent mutations in tumour mtDNA

inferred← citeshttps://doi.org/10.1073/pnas.2505704122openalex-snapshot

Cell type–specific purifying selection of synonymous mitochondrial DNA variation

inferred← citeshttps://doi.org/10.1093/bioinformatics/btac216openalex-snapshot

MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNA

inferred← citeshttps://doi.org/10.1093/gpbjnl/qzaf098openalex-snapshot

Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP

inferred← citeshttps://doi.org/10.1093/nar/gkab901openalex-snapshot

A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA

inferred← citeshttps://doi.org/10.1101/2020.08.18.256362openalex-snapshot

Respiratory complex and tissue lineage drive mutational patterns in the tumor mitochondrial genome

inferred← citeshttps://doi.org/10.1101/2022.09.20.22280151openalex-snapshot

Deleterious heteroplasmic mitochondrial mutations increase risk of overall and cancer-specific mortality

inferred← citeshttps://doi.org/10.1101/2022.10.14.512116openalex-snapshot

Aneuploidy in human embryos is associated with a maternal age-independent increase in mitochondrial DNA content and an enrichment of ultra-rare mitochondrial DNA variants

inferred← citeshttps://doi.org/10.1101/2023.04.23.537997openalex-snapshot

Codon affinity in mitochondrial DNA shapes evolutionary and somatic fitness

inferred← citeshttps://doi.org/10.1101/2024.09.02.610808openalex-snapshot

Mitochondrial Deletions and Healthspan: Lessons from the Common Repeat

inferred← citeshttps://doi.org/10.1101/2025.07.11.664452openalex-snapshot

Mitochondrial clone tracing within spatially intact human tissues

inferred← citeshttps://doi.org/10.1101/gr.276013.121openalex-snapshot

Mitochondrial DNA variation across 56,434 individuals in gnomAD

inferred← citeshttps://doi.org/10.1155/2022/5344418openalex-snapshot

Mitochondrial Haplogroup Classification of Ancient DNA Samples Using Haplotracker

inferred← citeshttps://doi.org/10.1186/s13023-022-02428-0openalex-snapshot

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

inferred← citeshttps://doi.org/10.1186/s13059-022-02732-9openalex-snapshot

Balanced mitochondrial and cytosolic translatomes underlie the biogenesis of human respiratory complexes

inferred← citeshttps://doi.org/10.1242/bio.059072openalex-snapshot

The population frequency of human mitochondrial DNA variants is highly dependent upon mutational bias

inferred← citeshttps://doi.org/10.3389/bjbs.2025.15375openalex-snapshot

Mitochondrial DNA Mutations and Epigenetic Regulation in Type 2 Diabetes Mellitus Development

inferred← citeshttps://doi.org/10.3389/fgene.2021.619950openalex-snapshot

New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples

inferred← citeshttps://doi.org/10.3389/fgene.2022.692257openalex-snapshot

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application

inferred← citeshttps://doi.org/10.3389/fgene.2022.887644openalex-snapshot

Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA

inferred← citeshttps://doi.org/10.3389/fgene.2023.1182288openalex-snapshot

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

inferred← citeshttps://doi.org/10.3389/fneur.2021.652590openalex-snapshot

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

inferred← citeshttps://doi.org/10.3389/fneur.2021.657317openalex-snapshot

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

inferred← citeshttps://doi.org/10.3389/fonc.2024.1394699openalex-snapshot

Our current understanding of the biological impact of endometrial cancer mtDNA genome mutations and their potential use as a biomarker

inferred← citeshttps://doi.org/10.3390/genes13071245openalex-snapshot

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

inferred← citeshttps://doi.org/10.3390/genes14081534openalex-snapshot

Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era

inferred← citeshttps://doi.org/10.3390/ijms222112031openalex-snapshot

From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel

inferred← citeshttps://doi.org/10.3390/ijms25042438openalex-snapshot

Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype

inferred← citeshttps://doi.org/10.3390/ijms27041773openalex-snapshot

Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma

Editorial review for independent work. ICSAC — the Institute for Complexity Science and Advanced Computing — runs a structured editorial panel for researchers publishing outside journals, and publishes on CiteStamp rails. Submission is free and goes through ORCID: icsacinstitute.org/submit.