Sara Nuovo

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2021
Publications (10 Years): 6

Top Venues

Journal of medical genetics

American journal of medical genetics. Part A

Human mutation

Neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Sara Nuovo, Alessia Micalizzi, Ludovica Pasca, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. Journal of medical genetics (2021)
Sara Nuovo, Vesna Brankovic, Caterina Caputi, Antonella Casella, Vincenzo Nigro, Vincenzo Leuzzi, Enza Maria Valente
Novel unconventional variants expand the allelic spectrum of OPHN1 gene. American journal of medical genetics. Part A 185 (5) (2021)
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Ludovica Pasca, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczaluba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, null null
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Journal of medical genetics (2021)
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Silvio Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza Maria Valente, Vincenzo Leuzzi
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation (2021)
Ludovica Pasca, Chiara Gagliardi, Patrizia Desalvo, Livio Provenzi, Roberta Battini, Enrico Bertini, Maria Teresa Bonati, Marilena Briguglio, Stefano D'Arrigo, Maria Teresa Dotti, Lucio Giordano, Claudio Macaluso, Isabella Moroni, Sara Nuovo, Margherita Santucci, Sabrina Signorini, Franco Stanzial, Enza Maria Valente, Renato Borgatti
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective. Disability and rehabilitation (2021)
Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente, Nicola Vanacore, null null
Age and sex prevalence estimate of Joubert syndrome in Italy. Neurology 94 (8) (2020)

Sara Nuovo.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Sara Nuovo