Siquier-Pernet, Karine

Top Publications

Top Publications Authored or Co-Authored by "Siquier-Pernet, Karine"

• Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

  Brain, Volume 142, No. 10, Year 2019, Citations 94
• Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

  Journal of Clinical Investigation, Volume 129, No. 3, Year 2019, Citations 58
• AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

  Nature Communications, Volume 8, Article 15910, Year 2017, Citations 58
• Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

  Orphanet Journal of Rare Diseases, Volume 11, No. 1, Article 57, Year 2016, Citations 26
• Mutation in TTI2 reveals a role for triple T complex in human brain development

  Human Mutation, Volume 34, No. 11, Year 2013, Citations 24