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AJNR. American Journal of Neuroradiology|October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric StudyLudovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.Iscience|February 3, 2025
Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile ciliaJacqueline E Taudien, Diana Bracht, Heike Olbrich, et al.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|February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, 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 2