Florian Barthélémy

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani et al. · The American Journal of Human Genetics · 2015 · 136 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +9

<i>DMD</i> genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype

Richard T. Wang, Florian Barthélémy, Ann Martin et al. · Human Mutation · 2018 · 81 citations · Full text

Genetics, Genetic Epidemiology, Molecular Biology +17

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Florian Barthélémy, Cédric M. Blouin, Nicolas Wein et al. · Journal of Neuromuscular Diseases · 2015 · 44 citations · Full text

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy et al. · Communications Biology · 2022 · 39 citations · Full text

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Florian Barthélémy, Claire Navarro, Racha Fayek et al. · European Journal of Human Genetics · 2015 · 30 citations · Full text

Genetics, Omics, Systems Biology +3