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Stefania Lo Cicero

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
2021 · Francesca Clementina Radio, Kaifang Pang, et al. · The American Journal of Human Genetics · 88
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Cloning and characterization of a gene encoding the endopolygalacturonase of Fusarium moniliforme
1993 · C. Caprari, A. Richter, et al. · Mycological Research · 74
Theratyping cystic fibrosisin vitroin ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells
2021 · Giovanni Sette, Stefania Lo Cicero, et al. · European Respiratory Journal · 61
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Human Elongation Factor EF-1β: Cloning and Characterization of the EF1β5a Gene and Assignment of EF-1β Isoforms to Chromosomes 2, 5, 15, and X
1993 · A. Pizzuti, M. Gennarelli, et al. · Biochemical and Biophysical Research Communications · 24
Comparison of two different protocols of neonatal screening for cystic fibrosis
2002 · L Narzi, M Lucarelli, et al. · Clinical Genetics · 22
L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients
2023 · Stefania Lo Cicero, Germana Castelli, et al. · Respiratory Research · 20
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In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells
2023 · Karina Kleinfelder, Virginia Lotti, et al. · iScience · 18
First‐trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers
1994 · S. Lo Cicero, F. Capon, et al. · Prenatal Diagnosis · 13
De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy
1995 · F. Capon, S. Lo Cicero, et al. · Prenatal Diagnosis · 10
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle
1992 · G. Novelli, M. Gennarelli, et al. · Cell Biochemistry and Function · 10
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
2020 · Viviana Cordeddu, Erica L. Macke, et al. · Clinical Genetics · 9
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
1996 · Francesca Capon, Chiarina Levato, et al. · Human Mutation · 8
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Identification of Multiple Transcribed Sequences from the Spinal Muscular Atrophy Region on Human Chromosome 5
1995 · A. Pizzuti, A. Colosimo, et al. · Biochemical and Biophysical Research Communications · 7
A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients
1993 · Francesca Capon, Salvatore Melchionda, et al. · Molecular and Cellular Probes · 7
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene
1993 · Federica Sangiuolo, Stefania Lo Cicero, et al. · Human Mutation · 6
Quantitative Evaluation of CFTR Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR
2023 · Sabina Maria Bruno, Giovanna Blaconà, et al. · Genes · 3
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Toward Precision Electrochemical Sensing of CFTR Function in Cystic Fibrosis Models
2026 · Antonella Miglione, Giovanna Blaconà, et al. · Analytical Chemistry · 2
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis
2025 · Stefania Lo Cicero, Germana Castelli, et al. · Cells · 2
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Correction to: L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fbrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients
2023 · Stefania Lo Cicero, Germana Castelli, et al. · Respiratory Research · 1
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PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies.
1993 · F Capon, S L Cicero, et al. · Genome Research · 1
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DNA methylation analysis of CFTR topologically associating domain: effects of epigenetic modulation in CFTR expression
2026 · S. Allushi, G. Blaconà, et al. · Journal of Cystic Fibrosis
OC39 A 3D airway epithelium-monocyte co-culture model to assess the impact of CCR2 and CCR5 inhibition on SARS-CoV-2 replication and inflammatory responses
2026 · C Antonucci, M Andreotti, et al.
P045 Epigenetic control of CFTR and FOXI1 gene expression in cystic fibrosis
2025 · G. Blaconà, S. Lo Cicero, et al. · Journal of Cystic Fibrosis
EPS7.05Therapeutic targeting of CFTR mutation-specific defects in cystic fibrosis patient-derived respiratory cells and organoids: advanced in vitro models and assays to guide personalized therapy
2025 · S. Lo Cicero, G. Castelli, et al. · Journal of Cystic Fibrosis
623 Preliminary assessment of nasal and colon-derived primary cells theratyping for a personalized medicine approach in people with cystic fibrosis carrying ultra-rare genotypes
2022 · C. Sorio, K. Kleinfelder, et al. · Journal of Cystic Fibrosis
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Works count: 28
Citation count: 386
H-index: 10
I10-index: 10
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