Feliciano J. Ramos
Universidad de Zaragoza(ES)Hospital Clínico Universitario Lozano Blesa(ES)Instituto de Investigación Sanitaria Aragón(ES)
Publications by Year
Research Areas
Genomics and Chromatin Dynamics, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases
Most-Cited Works
- → Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056(2011)611 cited
- → DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis(2006)521 cited
- → Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation(2007)521 cited
- → Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement(2018)364 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
- → Evidence for a cluster of genes on chromosome 17q11–q21 controlling susceptibility to tuberculosis and leprosy in Brazilians(2004)