Rodenburg, Richard J.T.

Top Publications

Top Publications Authored or Co-Authored by "Rodenburg, Richard J.T."

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

  Journal of Inherited Metabolic Disease, Volume 36, No. 6, Year 2013, Citations 77
• Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

  Human Mutation, Volume 36, No. 1, Year 2015, Citations 76
• MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

  EBioMedicine, Volume 30, Year 2018, Citations 47
• Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 42
• New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

  PLoS ONE, Volume 8, No. 10, Article e76831, Year 2013, Citations 42