Chatron, Nicolas

Top Publications

Top Publications Authored or Co-Authored by "Chatron, Nicolas"

• Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

  American Journal of Human Genetics, Volume 99, No. 6, Year 2016, Citations 34
• Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

  Journal of Medical Genetics, Volume 58, No. 12, Year 2021, Citations 30
• Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

  Brain, Volume 143, No. 5, Year 2020, Citations 30
• Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA

  Applied and Translational Genomics, Volume 7, Year 2015, Citations 21