Hughes, Imelda

Top Publications

Top Publications Authored or Co-Authored by "Hughes, Imelda"

• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain, Volume 137, No. 1, Year 2014, Citations 149
• Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)

  American Journal of Medical Genetics, Part A, Volume 146, No. 2, Year 2008, Citations 99
• MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

  EBioMedicine, Volume 30, Year 2018, Citations 47
• GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

  Annals of Neurology, Volume 88, No. 2, Year 2020, Citations 34