Thorburn, David Ross

Top Publications

Top Publications Authored or Co-Authored by "Thorburn, David Ross"

• 3-Methylglutaconic aciduria - Lessons from 50 genes and 977 patients

  Journal of Inherited Metabolic Disease, Volume 36, No. 6, Year 2013, Citations 77
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

  Genetics in Medicine, Volume 25, No. 6, Article 100314, Year 2023, Citations 61
• Epidemiological risk factors for hypersensitivity reactions to abacavir

  HIV Medicine, Volume 4, No. 4, Year 2003, Citations 53
• TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

  Nature Communications, Volume 14, No. 1, Article 1009, Year 2023, Citations 41
• Toward a mtDNA locus-specific mutation database using the LOVD platform

  Human Mutation, Volume 33, No. 9, Year 2012, Citations 13