Hudson, Gavin

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Robak, L. A., Jansen, I. E., van Rooij, J., Uitterlinden, A. G., Kraaij, R., Jankovic, J., Heutink, P., Shulman, J. M., International Parkinson’s Disease Genomics Consortium (IPDGC), Nalls, M. A., et al. (2017) · Brain

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 433

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., et al. (2008) · Brain

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 428

Mitochondrial genetics

Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 395

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Longley, M. J., Clark, S., Yu Wai Man, C., Hudson, G., Durham, S. E., Taylor, R. W., Nightingale, S., Turnbull, D. M., Copeland, W. C., & Chinnery, P. F. (2006) · The American Journal of Human Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 248

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases

Hudson, G., Gomez-Duran, A., Wilson, I. J., & Chinnery, P. F. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyMitochondrial Function and Pathology

Cited by 148

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, D. T., Donkervoort, S., Müller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., AlFaifi, A. Y., Monies, D., Millan, F., et al. (2018) · The American Journal of Human Genetics

RNA Research and SplicingGenomics and Rare Diseases

Cited by 88

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

Pyle, A., Hudson, G., Wilson, I. J., Coxhead, J., Smertenko, T., Herbert, M., Santibanez-Koref, M., & Chinnery, P. F. (2015) · PLOS Genetics

Forensic and Genetic ResearchMitochondrial Function and Pathology

Cited by 77

POLG1 in idiopathic Parkinson disease

Tiangyou, W., Hudson, G., Ghezzi, D., Ferrari, G., Zeviani, M., Burn, D. J., & Chinnery, P. F. (2006) · Neurology

Parkinson's Disease Mechanisms and TreatmentsDeep Brain Stimulation and Movement Disorders

Cited by 50

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41

Astrocytic Changes in Mitochondrial Oxidative Phosphorylation Protein Levels in Parkinson's Disease

Chen, C., Mossman, E., Malko, P., McDonald, D., Blain, A. P., Bone, L., Erskine, D., Filby, A., Vincent, A. E., Hudson, G., et al. (2022) · Movement Disorders

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 36

Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease

Lowes, H., Kurzawa-Akanbi, M., Pyle, A., & Hudson, G. (2020) · Scientific Reports

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 21