Francesca Ariani
University of Siena(IT)Azienda Ospedaliera Universitaria Senese(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Genomics and Rare Diseases, Ocular Oncology and Treatments
Most-Cited Works
- → FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome(2008)432 cited
- → CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome(2005)317 cited
- → Evidence of digenic inheritance in Alport syndrome(2015)159 cited
- → Expert consensus guidelines for the genetic diagnosis of Alport syndrome(2018)146 cited
- → Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases(2013)142 cited
- → Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication(2004)110 cited