Professor Patrick Chinnery
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Volker Straub
Dr Christina Trainor
et al. | Correction to: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (Nature Medicine, (2025), 31, 2, (478-489), 10.1038/s41591-024-03420-w) | 2025 |
|
Dr David Cousins
Professor Patrick Chinnery
Dr Rhys Thomas
| Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control study | 2025 |
|
Dr Marta Bertoli
Professor Patrick Chinnery
Dr Helen Griffin
Professor Sophie Hambleton
Ruxandra Neatu
et al. | Rare disease gene association discovery in the 100,000 Genomes Project | 2025 |
|
Jessie Nie
Dr Jim Stewart
Professor Patrick Chinnery
| Ubiquitin-mediated mitophagy regulates the inheritance of mitochondrial DNA mutations | 2025 |
|
Dr Angela Pyle
Dr Brendan Payne
Dr Jonathan Coxhead
Professor Gavin Hudson
Moira Crosier
et al. | Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos (Nature Cell Biology, (2018), 20, 2, (144-151), 10.1038/s41556-017-0017-8) | 2023 |
|
Dr Jim Stewart
Professor Patrick Chinnery
| Cell lineage-specific mitochondrial resilience during mammalian organogenesis | 2023 |
|
Dr Jim Stewart
Professor Patrick Chinnery
| High-throughput single-cell analysis reveals progressive mitochondrial DNA mosaicism throughout life | 2023 |
|
Dr William Macken
Dr Mahmoud Fassad
Dr Fei Gao
Krutik Patel
Dr Ana Topf
et al. | Neuromuscular disease genetics in under-represented populations: increasing data diversity | 2023 |
|
Dr Tina Biss
Dr Paul Brennan
Philip Griffiths
Professor Rita Horvath
Professor Patrick Chinnery
et al. | GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements | 2022 |
|
Dr Angela Pyle
Dr Helen Griffin
Dr Jonathan Coxhead
Raf Hussain
Professor Gavin Hudson
et al. | Heteroplasmic mitochondrial DNA variants in cardiovascular diseases | 2022 |
|
Ewen Sommerville
Professor Patrick Chinnery
Professor Grainne Gorman
Professor Robert Taylor
| RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis | 2022 |
|
Dr Katja Menger
Dr Thomas Nicholls
Professor Patrick Chinnery
| The human mitochondrial genome contains a second light strand promoter | 2022 |
|
Florence Burté
Dr Holly Duncan
Professor Patrick Chinnery
| WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression | 2022 |
|
Professor Grainne Gorman
Professor Rita Horvath
Dr Richard Quinton
Dr Andrew Schaefer
Dr Patrick Yu Wai Man
et al. | 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report | 2021 |
|
Dr Ana Topf
Dr Angela Pyle
Dr Helen Griffin
Professor Patrick Chinnery
Dr Andreas Roos
et al. | Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) | 2021 |
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