Valentina Serpieri

Age and sex prevalence estimate of Joubert syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino et al. · Neurology · 2020 · 47 citations · Full text

Medicine, Neurology, Pediatrics +13

<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Valentina Serpieri, Fulvio D’Abrusco, Jennifer C. Dempsey et al. · Journal of Medical Genetics · 2021 · 36 citations · Full text

Life Sciences, Genetics, Neurology +17

A novel IRF2BPL truncating variant is associated with endolysosomal storage

Monia Ginevrino, Roberta Battini, Sara Nuovo et al. · Molecular Biology Reports · 2019 · 25 citations

Life Sciences, Genetics, Molecular Genetics +7

Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5‐methyl‐tetrahydrofolate and 5‐formyl‐tetrahydrofolate

Lorenza Vitale, Valentina Serpieri, Mattia Lauriola et al. · Journal of Cellular Physiology · 2019 · 22 citations

Life Sciences, Biochemistry, Molecular Genetics +14

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Sara Nuovo, Alessia Micalizzi, Romina Romaniello et al. · Journal of Medical Genetics · 2021 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17