Antonio Musio

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 518 citations · Full text

Developmental Anomaly, Smc1a Cause, Mendelian Disorder +11

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli et al. · Nature Genetics · 2006 · 476 citations

Mendelian Disorder, Genetic Disorder, Pathology +5

Physiologic Oxygen Enhances Human Embryonic Stem Cell Clonal Recovery and Reduces Chromosomal Abnormalities

Nicholas R. Forsyth, Antonio Musio, Paolo Vezzoni et al. · Cloning and Stem Cells · 2006 · 194 citations

Embryo Culture, Regenerative Medicine, Embryonic Stem Cell +15

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

SMC1 involvement in fragile site expression

Antonio Musio, Cristina Montagna, Tullio Mariani et al. · Human Molecular Genetics · 2005 · 117 citations

Microformat, Molecular Biology, Molecular Genetics +17