Antonio Musio - Concepedia

Author

Antonio Musio

Institute of Genetic and Biomedical Research ORCID

Also Known As

A Musio, A. MUSIO, A. Musio, A., Musio, Antonio MUSIO, Antonio Musio, Feliciano Ramos

140

Publications

3.9K

Citations

H-Index

117

Concepts

All Affiliations

Institute of Genetic and Biomedical Research Institute of Biomedical Technologies Children's Hospital of Philadelphia University of Pisa University of Pennsylvania

About

Antonio Musio is an author at Institute of Genetic and Biomedical Research specializing in medicine, genetics, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	25	2.3K
2	Natural Sciences	5	5	333
3	Public Health	4	4	285
4	Health Sciences	1	1	61
5	Biology	1	1	62

Antonio Musio

Publications

3.1K

Citations

H-Index

Page 1

	Year	Citations
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, The American Journal of Human Genetics Developmental AnomalySmc1a CauseMendelian DisorderGenetic DisorderGenetics	2007	518
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli, Nature Genetics Mendelian DisorderGenetic DisorderPathologyDegenerative DiseaseX-linked Cornelia	2006	476
Physiologic Oxygen Enhances Human Embryonic Stem Cell Clonal Recovery and Reduces Chromosomal Abnormalities Nicholas R. Forsyth, Antonio Musio, Paolo Vezzoni, Cloning and Stem Cells Embryo CultureRegenerative MedicineEmbryonic Stem CellInduced Pluripotent Stem CellDevelopmental Biology	2006	194
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, Human Molecular Genetics GeneticsImmunodeficienciesGenetic EpidemiologyPathologyMolecular Genetics	2014	146
SMC1 involvement in fragile site expression Antonio Musio, Cristina Montagna, Tullio Mariani, Human Molecular Genetics MicroformatMolecular BiologyMolecular GeneticsSmc1 InvolvementCell Cycle	2005	117
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA Ekaterina Revenkova, Maria Luisa Focarelli, S. P. Lucia, Human Molecular Genetics ChromatinGenome InstabilityMendelian DisorderChromatin RemodelingGenetic Disorder	2008	107
The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases Samantha A. Schrier, Joann Bodurtha, Barbara K. Burton, American Journal of Medical Genetics Part A	2012	91
Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development Patrizia Sarogni, Orazio Palumbo, Adele Servadio, Journal of Experimental & Clinical Cancer Research	2019	86
Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome Linda Mannini, Fabien C. Lamaze, Francesco Cucco, Scientific Reports	2015	73
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes Ana Latorre, Ángela Ascaso, Laura Trujillano, International Journal of Molecular Sciences Identify CorneliaBiometricsGenetic EpidemiologyDiagnosisPathology	2020	69

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