Publication & Citation Trends
Publications
45 total
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
Cited by 170
OpenAlex
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
Cited by 145
OpenAlex
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA PDF
Cited by 3,392
OpenAlex
Research Topics
Mitochondrial Function and Pathology
(17)
Metabolism and Genetic Disorders
(11)
Retinal Diseases and Treatments
(10)
ATP Synthase and ATPases Research
(6)
Glaucoma and retinal disorders
(5)
Affiliations
Grand Rapids Community College
Moorfields Eye Hospital NHS Foundation Trust
North Tyneside General Hospital
Royal Victoria Infirmary
NIHR Moorfields Biomedical Research Centre