Concepedia
Statistics
Publications
14
Citations
919
H-Index
13
Active since
2004
Affiliations
University of Siena(Current)
Azienda Ospedaliera Universitaria Senese
University of Milan
IRCCS Istituto Auxologico Italiano
Vita-Salute San Raffaele University
Rossella Caselli is an author at University of Siena specializing in genetics, genetic disorders, and life sciences.
Publications per year
2004–2025
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
Life Sciences, Genetics, Neuroscience +17
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
Life Sciences, Genetics, Molecular Genetics +8
Private inherited microdeletion/microduplications: Implications in clinical practice
Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2008 · 107 citations
Life Sciences, Genetics, Molecular Genetics +14
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features
Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli et al. · American Journal of Medical Genetics Part A · 2008 · 65 citations
Life Sciences, Genetics, Molecular Genetics +17
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families
Ilaria Longo, Elisa Scala, Francesca Mari et al. · Nephrology Dialysis Transplantation · 2005 · 50 citations
Medicine, Genetics, Molecular Genetics +16
1–5 of 14