Stefania Bigoni
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Congenital heart defects research
Most-Cited Works
- → Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome(2011)229 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes(2016)163 cited
- → Evidence of kinesin heavy chain ( KIF5A ) involvement in pure hereditary spastic paraplegia(2004)118 cited
- → Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care(2018)105 cited
- → ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria(2021)66 cited
- → Characterization of intellectual disability and autism comorbidity through gene panel sequencing(2019)65 cited
- → Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females(2000)56 cited
- → Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1)(2016)52 cited
- → PURA- Related Developmental and Epileptic Encephalopathy(2021)48 cited