Concepedia

Chiara Pescucci

CP

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Publications

26

Citations

1.6K

H-Index

20

Active since

2003

Affiliations

University of Siena(Current)

Azienda Ospedaliero-Universitaria Careggi

Azienda Ospedaliera Universitaria Senese

University of Florence

Istituti di Ricovero e Cura a Carattere Scientifico

Chiara Pescucci is an author at University of Siena specializing in genetics, life sciences, and genetic disorders.

Publications per year

2003–2022

26

Publications

26

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 · 318 citations · Full text

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

Matteo Benelli, Chiara Pescucci, Giuseppina Marseglia et al. · Bioinformatics · 2012 · 233 citations · Full text

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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 · 151 citations · Full text

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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

, , +17

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

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