Patrick Francis Chinnery

The paper maps concealed mitochondrial DNA mutations across 2.7 million cells from 311 individuals, finding that low-prevalence mutations accumulate with age and predict human age.

This study integrates genetic variation with plasma protein measurements in South Asians to identify pQTLs and build a proteogenomic disease network for understudied populations.

This study assesses cross-neutralisation of sarbecoviruses by COVID-19 vaccines in older adults, finding reduced neutralisation of Omicron variants and some animal sarbecoviruses but enhanced neutralisation of specific bat and pangolin coronaviruses.

This study shows that high mitochondrial DNA heteroplasmy in human organoids with the m.3243A>G mutation causes cortical neuronal disturbances, including axonal degeneration and apoptosis, similar to MELAS patients.

The paper uses advanced imaging techniques to study mtDNA dynamics in quiescent human cells, revealing rapid replication and degradation rates and spatial organization of mtDNA.

The paper uses single-molecule FISH to study mtDNA heteroplasmy dynamics in Drosophila and human cells, revealing developmental bottlenecks and selection effects on mutation load.

The paper identifies nuclear genetic variants influencing mtDNA transcript abundance across tissues and links them to disease risk.

The paper identifies a silencer element lost in ADLD patients that specifically targets oligodendrocyte overexpression of LMNB1, linking it to disease pathogenesis.

This study shows that an inherited mtDNA mutation alters inflammatory cytokine responses in macrophages and in vivo, leading to increased IFN-I and reduced pro-inflammatory cytokines.

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

Blood whole genomes from 274,832 people yield 92 independent nuclear signals for mtDNA copy number and 42 for inherited heteroplasmy levels, implicating mtDNA replication machinery.

This study shows that mice with severe loss of nigral dopamine neurons due to mtDNA mutations still maintain motor function through preserved striatal innervation.

The paper identifies cryptic mitochondrial DNA mutations in single cells across species and tissues, showing their association with ageing and pathophysiological processes.

This study investigates the role of BCL2L13 and autophagy in mtDNA purifying selection by analyzing knockout models in mice.

The paper develops a protocol using Oxford Nanopore Sequencing to accurately detect CpG methylation in human mtDNA, overcoming limitations of WGBS.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper identifies transposable elements resistant to epigenetic resetting in human germline cells and links them to developmental traits and diseases.

This paper conducts a genome-wide association study of mitochondrial DNA copy number in two cohorts, identifying potential loci and highlighting the need for larger studies.

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.