Associated Papers
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.
Muccioli L et al.
Epilepsia Open, 2025
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G et al.
American Journal of Medical Genetics. Part A, 2023
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Singh T et al.
Nature, 2022
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
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