Yu-Wai-Man, Patrick Yu Wai

Top Publications

Top Publications Authored or Co-Authored by "Yu-Wai-Man, Patrick Yu Wai"

• Clinical expression of leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

  American Journal of Human Genetics, Volume 81, No. 2, Year 2007, Citations 353
• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56
• Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

  Brain Communications, Volume 3, No. 3, Article fcab162, Year 2021, Citations 40
• Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

  Brain Communications, Volume 3, No. 2, Article fcab063, Year 2021, Citations 37
• Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

  Neurology: Genetics, Volume 6, No. 3, Article e428, Year 2020, Citations 28