Gabriella Esposito

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19

Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa et al. · iScience · 2021 · 78 citations · Full text

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

Marianthi Karali, Francesco Testa, Valentina Di Iorio et al. · Scientific Reports · 2022 · 76 citations · Full text

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

Gabriella Esposito, Francesca De Falco, Nadia Tinto et al. · Human Mutation · 2011 · 61 citations

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

Gabriella Esposito, Francesco Testa, Miriam Zacchia et al. · BMC Medical Genetics · 2017 · 58 citations · Full text

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance

Gabriella Esposito, Luigi Vitagliano, Rita Santamaria et al. · FEBS Letters · 2002 · 43 citations · Full text