Bernard, Rafaëlle

Top Publications

Top Publications Authored or Co-Authored by "Bernard, Rafaëlle"

• Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes

  Neuromuscular Disorders, Volume 21, No. 8, Year 2011, Citations 50
• SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

  Nucleic Acids Research, Volume 47, No. 6, Year 2019, Citations 40
• A novel mutation in FGD4/FRABIN causes charcot marie tooth disease type 4H in patients from a consanguineous tunisian family

  Annals of Human Genetics, Volume 77, No. 4, Year 2013, Citations 16
• X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation

  Genetic Counseling, Volume 16, No. 1, Year 2005, Citations 8