Giuseppa Maria Luana Mandarà

Statistics

Publications

Citations

117

H-Index

Active since

2012

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

University of Catania

Oasi Maria SS

CHU Dijon Bourgogne

Université Toulouse III - Paul Sabatier

Giuseppa Maria Luana Mandarà is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in molecular genetics, life sciences, and enzyme deficiencies.

ORCID

Publications per year

2012–2025

Publications

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Corrine Smolen, Matthew Jensen, Lisa Dyer et al. · The American Journal of Human Genetics · 2023 · 40 citations · Full text

Life Sciences, Biology, Genetics +13

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Valeria Chiavetta, Giuseppa Ruggeri, Maria Piccione et al. · European Journal of Medical Genetics · 2016 · 35 citations

Life Sciences, Genetics, Molecular Genetics +12

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

Elisa Fermo, Paola Bianchi, Laurent R. Chiarelli et al. · Molecular Genetics and Metabolism · 2012 · 32 citations

Life Sciences, Biochemistry, Molecular Genetics +7

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina et al. · Cell · 2025 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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