Viola Alesi
Bambino Gesù Children's Hospital(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Genomics and Rare Diseases, Glioma Diagnosis and Treatment
Most-Cited Works
- → Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies(2015)311 cited
- → Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function(2020)80 cited
- → Copy number variants in autism spectrum disorders(2019)70 cited
- → High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?(2009)67 cited
- → The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes(2018)62 cited
- → Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO Classification(2022)51 cited
- → X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients(2018)45 cited
- → KBG syndrome: Common and uncommon clinical features based on 31 new patients(2020)45 cited
- → Another patient with 12q13 microduplication(2013)40 cited
- → Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review(2017)39 cited