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European Journal of Human Genetics : EJHG|October 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.Journal of Medical Genetics|June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric studySara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndromeValentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, et al.Journal of Medical Genetics|October 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.Pageof 3