Elisa Bettella

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge

Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge

Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype