Labalme, Audrey

Top Publications

Top Publications Authored or Co-Authored by "Labalme, Audrey"

• Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

  Clinical Genetics, Volume 89, No. 2, Year 2016, Citations 76
• 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
• West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

  European Journal of Human Genetics, Volume 24, No. 7, Year 2016, Citations 16
• Array-CGH study of partial trisomy 9p without mental retardation

  American Journal of Medical Genetics, Part A, Volume 155, No. 7, Year 2011, Citations 14