Franceschetti, Silvana

Top Publications

Top Publications Authored or Co-Authored by "Franceschetti, Silvana"

• Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

  Nature Genetics, Volume 15, No. 4, Year 1997, Citations 219
• 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
• Death in Unverricht - Lundborg disease

  Neurological Sciences, Volume 30, No. 4, Year 2009, Citations 14
• GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

  Nature Genetics, Volume 55, No. 9, Year 2023, Citations 3
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

  Nature Communications, Volume 14, No. 1, Article 4392, Year 2023, Citations 2