Iacomino, Michele

Top Publications

Top Publications Authored or Co-Authored by "Iacomino, Michele"

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

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

  Nature Communications, Volume 10, No. 1, Article 4920, Year 2019, Citations 98
• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

  Human Genetics, Volume 142, No. 7, Year 2023, Citations 50