Elisa Bettella
University of Padua(IT)Città della Speranza Foundation(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, RNA and protein synthesis mechanisms
Most-Cited Works
- → Heavy metal inhibition of EROD activity in liver microsomes from the bass Dicentrarchus labrax exposed to organic xenobiotics: Role of GSH in the reduction of heavy metal effects(1997)118 cited
- → 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype(2012)76 cited
- → Characterization of intellectual disability and autism comorbidity through gene panel sequencing(2019)65 cited
- → Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders(2019)61 cited
- → A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndrome(2009)37 cited
- → Pathogenic Role of the X-Linked Cyclin-Dependent Kinase-Like 5 and Aristaless-Related Homeobox Genes in Epileptic Encephalopathy of Unknown Etiology With Onset in the First Year of Life(2011)32 cited
- → Familial Ohtahara syndrome due to a novel ARX gene mutation(2010)30 cited
- → Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review(2018)29 cited
- → Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”(2020)28 cited
- → A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)(2020)25 cited