Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
| Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment | 2025 |
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Dr Monika Olahova
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
| Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency | 2025 |
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Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Professor Wyatt Yue
Professor Robert Taylor
et al. | Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype | 2025 |
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Jessica Tarn
John Casement
Dr Dennis Lendrem
Dr Kyle Thompson
Professor Fai Ng
et al. | Stability of symptom-based subtypes in Sjogren's disease | 2024 |
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Dr Kyle Thompson
Dr Langping He
Professor Zofia Chrzanowska-Lightowlers
Professor Robert Taylor
| Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease | 2023 |
|
Professor Fai Ng
Dr Kyle Thompson
| Influence of exposure to climate-related hazards in the phenotypic expression of primary Sjögren's syndrome | 2023 |
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Dr Kyle Thompson
Professor Robert Taylor
| Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease | 2023 |
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Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Thomas McCorvie
Professor Wyatt Yue
et al. | Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 | 2023 |
|
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
| Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease | 2022 |
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Dr Kyle Thompson
Benjamin Munro
Dr Daria Diodato
Professor Rita Horvath
Professor Robert Taylor
et al. | Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease | 2022 |
|
Dr Louise Tanner
Dr Ryan Kenny
Madeleine Still
Dr Fiona Pearson
Dr Kyle Thompson
et al. | NHS Health Check programme: a rapid review update | 2022 |
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Dr Kyle Thompson
Professor Robert Taylor
| Phenotypic continuum of NFU1-related disorders | 2022 |
|
Dr Kyle Thompson
Professor Wyatt Yue
Professor Robert Taylor
| Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations | 2021 |
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Ahmad Alahmad
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Charlotte Alston
et al. | Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I | 2020 |
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Dr Yi Ng
Dr Kyle Thompson
Daniela Loher
Sila Hopton
Gavin Falkous
et al. | Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency | 2020 |
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Dr Kyle Thompson
Jack Collier
Ruth Glasgow
Dr Fiona Robertson
Dr Angela Pyle
et al. | Recent advances in understanding the molecular genetic basis of mitochondrial disease | 2020 |
|
Dr Ewen Sommerville
Dr Francesco Bruni
Dr Kyle Thompson
Dr Mariana Rocha
Dr Langping He
et al. | Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance | 2019 |
|
Dr Hannah Hayhurst
Charlotte Alston
Dr Kyle Thompson
Dr Langping He
Sila Hopton
et al. | Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis | 2019 |
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Dr Kyle Thompson
Dr Monika Olahova
Dr Filippo Scialo
Dr Nichola Lax
Dr Fiona Robertson
et al. | OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect | 2018 |
|
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
| A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways | 2018 |
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Dr Monika Olahova
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
| Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder | 2018 |
|
Dr Kyle Thompson
Professor Robert Taylor
| Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism | 2018 |
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Dr Francesco Bruni
Dr Kyle Thompson
Dr Langping He
Dr Arjan De Brouwer
Professor Robert Taylor
et al. | Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) | 2018 |
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Dr Kyle Thompson
Ahmad Alahmad
Dr Langping He
Professor Robert Taylor
| Expanding the clinical phenotype of IARS2-related mitochondrial disease | 2018 |
|
Dr Kyle Thompson
Sila Hopton
Dr Langping He
Professor Robert Taylor
| Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy | 2018 |
|
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
| Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy | 2018 |
|
Dr Kyle Thompson
Frances White
Steven Hardy
Professor Robert Taylor
| Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults | 2018 |
|
Dr Monika Olahova
Dr Kyle Thompson
Dr Charlotte Alston
Professor Patrick Chinnery
Professor Zofia Chrzanowska-Lightowlers
et al. | Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | 2017 |
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Ruth Glasgow
Dr Kyle Thompson
Dr Langping He
Dr Charlotte Alston
Professor Bobby McFarland
et al. | Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits | 2017 |
|
Dr Monika Olahova
Dr Kyle Thompson
Dr Steven Hardy
Maria-Eleni Anagnostou
Dr Kathryn White
et al. | Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria | 2017 |
|
Dr Kyle Thompson
Dr Charlotte Alston
Dr Langping He
Dr Angela Pyle
Dr Helen Griffin
et al. | Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies | 2016 |
|
Dr Kyle Thompson
Dr Charlotte Alston
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
et al. | Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number | 2016 |
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Dr Kyle Thompson
Dr Steven Hardy
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
et al. | Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102 | 2015 |
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Dr Kyle Thompson
Dr Steven Hardy
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
et al. | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | 2015 |
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