Valentina Serpieri

ORCID

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 5

Top Venues

Journal of medical genetics

American journal of medical genetics. Part A

International journal of molecular sciences

American journal of medical genetics. Part C, Seminars in medical genetics

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

Publications

Simone Gana, Valentina Serpieri, Elisa Giorgio, Melanie Iorio, Elisa Rognone, Anna Pichiecchio, Matteo Chiappedi, Enza Maria Valente
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder. American journal of medical genetics. Part A (2023)
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Ludovica Pasca, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. Journal of medical genetics (2023)
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D'Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Silvio Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders. International journal of molecular sciences 23 (12) (2022)
Simone Gana, Valentina Serpieri, Enza Maria Valente
Genotype-phenotype correlates in Joubert syndrome: A review. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
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)

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Publication Activity (10 Years)

Top Topics

Top Venues

Valentina Serpieri