Rio, Marlène

Top Publications

Top Publications Authored or Co-Authored by "Rio, Marlène"

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

  Brain, Volume 140, No. 10, Year 2017, Citations 92
• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

  Clinical Genetics, Volume 87, No. 3, Year 2015, Citations 50
• Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

  Nature Genetics, Volume 54, No. 1, Year 2022, Citations 41