Minetti, C.

Top Publications

Top Publications Authored or Co-Authored by "Minetti, C."

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

  Brain, Volume 142, No. 10, Year 2019, Citations 94
• Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

  American Journal of Human Genetics, Volume 104, No. 4, Year 2019, Citations 84
• Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

  Human Genetics, Volume 142, No. 7, Year 2023, Citations 50
• Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

  American Journal of Human Genetics, Volume 103, No. 3, Year 2018, Citations 39