Philip G. Griffiths

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

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

Thomas Klopstock, Patrick Yu‐Wai‐Man, Konstantinos Dimitriadis et al. · Brain · 2011 · 569 citations · Full text

Medicine, Neurology, Ophthalmology +17

Multi-system neurological disease is common in patients with OPA1 mutations

Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman et al. · Brain · 2010 · 447 citations · Full text

Medicine, Genetics, Neurology +16

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

Gavin Hudson, Patrizia Amati‐Bonneau, Emma L. Blakely et al. · Brain · 2007 · 421 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Gavin Hudson, Valério Carelli, Liesbeth Spruijt et al. · The American Journal of Human Genetics · 2007 · 356 citations · Full text

Medicine, Genetics, Molecular Genetics +16