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Seizure|March 12, 2022
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene clusterGiuseppe Donato Mangano, Vincenzo Antona, Elisa Calì, et al.
Brain & Development|August 26, 2023
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overviewGreta Amore, Elisa Calì, Maria Spanò, et al.
Genes|December 23, 2023
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic ImplicationsGiovanna Scorrano, Emanuele David, Elisa Calì, et al.
Brain Sciences|September 28, 2021
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan SyndromeCeleste Casto, Valeria Dipasquale, Ida Ceravolo, et al.
Pediatric Neurology|October 11, 2023
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in ChildrenGiovanna Scorrano, Gianluca D'Onofrio, Andrea Accogli, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersPaola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.
Cerebellum (London, England)|February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentAndrea Accogli, Shenzhao Lu, Ilaria Musante, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
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