McFarland, Robert

Top Publications

Top Publications Authored or Co-Authored by "McFarland, Robert"

• Developmental consequences of defective Atg7-mediated autophagy in humans

  New England Journal of Medicine, Volume 384, No. 25, Year 2021, Citations 70
• 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
• Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

  American Journal of Human Genetics, Volume 109, No. 9, Year 2022, Citations 54
• Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′-end processing

  Human Mutation, Volume 40, No. 10, Year 2019, Citations 33
• Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

  EMBO Molecular Medicine, Volume 12, No. 11, Article e12619, Year 2020, Citations 19