Concepedia

Gabriella Esposito

GE

Statistics

Publications

34

Citations

965

H-Index

19

Active since

1993

Affiliations

University of Naples Federico II(Current)

CEINGE Biotecnologie Avanzate Franco Salvatore (Italy)

Istituti di Ricovero e Cura a Carattere Scientifico

SDN Istituto di Ricerca Diagnostica e Nucleare

University of Campania "Luigi Vanvitelli"

Gabriella Esposito is an author at University of Naples Federico II specializing in life sciences, genetics, and medical genetics.

ORCID

Publications per year

1993–2024

34

Publications

34

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 · 81 citations · Full text

, , +13

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

, , +17

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 · 62 citations

, , +17

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 · 60 citations · Full text

, , +17

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

Gabriella Esposito, Luigi Vitagliano, Rita Santamaria et al. · FEBS Letters · 2002 · 44 citations · Full text

, , +17

1–5 of 34