Silvia Esposito

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Eliana Marisa Ramos, Miryam Carecchio, Roberta R. Lemos et al. · European Journal of Human Genetics · 2018 · 73 citations · Full text

Life Sciences, Neurology, Neuroscience +11

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Claudia Ciaccio, Veronica Saletti, Stefano D’Arrigo et al. · European Journal of Medical Genetics · 2018 · 59 citations

Medicine, Genetics, Pediatrics +6

The Arabidopsis THO/TREX component TEX1 functionally interacts with MOS11 and modulates mRNA export and alternative splicing events

Brian B. Sørensen, Hans F. Ehrnsberger, Silvia Esposito et al. · Plant Molecular Biology · 2016 · 42 citations

Life Sciences, Molecular Biology, Plant Biology +14

126 novel mutations in Italian patients with neurofibromatosis type 1

Donatella Bianchessi, S Morosini, Veronica Saletti et al. · Molecular Genetics & Genomic Medicine · 2015 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17