Stefania Lo Cicero

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

Cloning and characterization of a gene encoding the endopolygalacturonase of Fusarium moniliforme

Claudio Caprari, A. Richter, Carl Bergmann et al. · Mycological Research · 1993 · 75 citations

Biology, Biosynthesis, Engineering +7

Theratyping cystic fibrosis<i>in vitro</i>in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells

Giovanni Sette, Stefania Lo Cicero, Giovanna Blaconà et al. · European Respiratory Journal · 2021 · 55 citations · Full text

Comparison of two different protocols of neonatal screening for cystic fibrosis

L. Narzi, Marco Lucarelli, A Lelli et al. · Clinical Genetics · 2002 · 22 citations

Genetic Testing, Neonatology, Lazio Region +19

In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells

Karina Kleinfelder, Virginia Lotti, Adriana Eramo et al. · iScience · 2023 · 17 citations · Full text