Sara Nuovo

6PUBLICATIONS
31CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeonatologyCraniofacial biologyOptical technologyDevelopmental genetics (incl. sex determination)
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Publications (6)

|Nov 08, 2021
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Sara Nuovo, Valentina Baglioni, Roberta De Mori

|Oct 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.

Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey

|Jun 04, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Sara Nuovo, Alessia Micalizzi, Romina Romaniello

|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

Romina Romaniello, Chiara Gagliardi, Patrizia Desalvo

|Feb 27, 2021
Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

Sara Nuovo, Vesna Brankovic, Caterina Caputi

|Jan 24, 2020
Age and sex prevalence estimate of Joubert syndrome in Italy.

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino

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Frequent Collaborators

4 joint publications

Vincenzo Leuzzi

4 joint publications

Enza Maria Valente

3 joint publications

Romina Romaniello

3 joint publications

Enrico Silvio Bertini