Sara Nuovo

Two unique <i>TUBB3</i> mutations cause both CFEOM3 and malformations of cortical development

Mary C. Whitman, Caroline Andrews, Wai‐Man Chan et al. · American Journal of Medical Genetics Part A · 2015 · 74 citations · Full text

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Roberta De Mori, Marta Romani, Stefano D’Arrigo et al. · The American Journal of Human Genetics · 2017 · 58 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

Age and sex prevalence estimate of Joubert syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino et al. · Neurology · 2020 · 46 citations · Full text

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romina Romaniello, Filippo Arrigoni, Elena Panzeri et al. · European Radiology · 2017 · 43 citations

Tubulin-related Cerebellar Dysplasia, Cerebellar Malformation, Neuropathology +2

<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 · 35 citations · Full text