Angelo Selicorni
Fondazione Roma(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Chromatin Dynamics, Genetic Syndromes and Imprinting, Genomics and Rare Diseases, Connective tissue disorders research
Most-Cited Works
- → Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy(2007)696 cited
- → X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations(2006)476 cited
- → Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair(2009)413 cited
- → Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement(2018)364 cited
- → Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability(2014)353 cited
- → Identification of the Gene for Oral-Facial-Digital Type I Syndrome(2001)350 cited
- → Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation