Angela Ragusa
Publications by Year
Research Areas
Hemoglobinopathies and Related Disorders, Genetics and Neurodevelopmental Disorders, Iron Metabolism and Disorders, Folate and B Vitamins Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation(2002)267 cited
- → Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations(2001)126 cited
- → Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution(1998)63 cited
- → βS gene in sicily is in linkage disequilibrium with the benin haplotype: Implications for gene flow(1988)50 cited
- → Genetic epidemiology of β‐thalassemia in sicily: Do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance HbF expression in β‐thalassemia?(1992)41 cited
- → Inter-ethnic polymorphism of the ?-globin gene locus control region (LCR) in sickle-cell anemia patients(1993)37 cited
- → Prenatal diagnosis of ATR‐X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR‐X gene(2001)18 cited
- → Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome(2010)17 cited
- → Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation(2006)13 cited
- Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].(2001)