Antonio Musio
Istituto di Scienza e Tecnologie dell'Informazione "Alessandro Faedo"(IT)National Research Council(IT)
Publications by Year
Research Areas
Genomics and Chromatin Dynamics, RNA Research and Splicing, Genomic variations and chromosomal abnormalities, DNA Repair Mechanisms, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation(2007)521 cited
- → X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations(2006)476 cited
- → Physiologic Oxygen Enhances Human Embryonic Stem Cell Clonal Recovery and Reduces Chromosomal Abnormalities(2006)194 cited
- → Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome(2013)188 cited
- → Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance(2014)148 cited
- → SMC1 involvement in fragile site expression(2005)117 cited