Chiara Pescucci

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Francesca Mari, Sara Azimonti, Ilaria Bertani et al. · Human Molecular Genetics · 2005 · 317 citations · Full text

Early-onset Seizure Variant, Rett Syndrome, Genetics +18

Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript

Matteo Benelli, Chiara Pescucci, Giuseppina Marseglia et al. · Bioinformatics · 2012 · 225 citations · Full text

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Chiara Pescucci, Francesca Mari, Ilaria Longo et al. · Kidney International · 2004 · 150 citations

Autosomal-dominant Alport Syndrome, Mendelian Disorder, Autoimmune Disease +9

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

Francesca Ariani, Francesca Mari, Chiara Pescucci et al. · Human Mutation · 2004 · 110 citations

Gross Rearrangements, Transcriptional Regulation, Mendelian Disorder +14

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

Giuseppina Marseglia, Maria Rosaria Scordo, Chiara Pescucci et al. · European Journal of Medical Genetics · 2012 · 87 citations

Psychiatry, Genetic Disorder, Genetics +10