Publications by authors named "Giulia Maneri"

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Comprehensive genomic profiling and clinico-pathologic characterization of primary ovarian leiomyosarcoma.
Matteo Bruno, Elisa De Paolis, Angelo Minucci, Alessia Piermattei, Giulia Maneri

Int J Gynecol Cancer· September 2025

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Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.
Antonio Funcis, Valerio Brunetti, Salvatore Rossi, Giammarco Dalla Zanna, Martina de Scisciolo, Giulia Maneri

Mov Disord· September 2025

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Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study.
Alessia Perrucci, Maria De Bonis, Giulia Maneri, Claudio Ricciardi Tenore, Paola Concolino

Genes (Basel)· September 2025

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Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.
Daniele Guadagnolo, Angelo Minucci, Antonella Chiavassa, Gabriella Gentile, Francesca Salvatori, Giulia Maneri

Mol Biol Rep· February 2025

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Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.
Paola Concolino, Elisa De Paolis, Martina Rinelli, Giulia Maneri, Francesca Brisighelli

Ann Lab Med· November 2024

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: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.
Claudio Ricciardi Tenore, Eugenia Tulli, Claudia Calò, Roberto Bertozzi, Jessica Evangelista, Giulia Maneri

Genes (Basel)· October 2024

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Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how.
Giulia Maneri, Camilla Nero, Luciano Giacò, Giovanni Scambia, Angelo Minucci

JNCI Cancer Spectr· September 2024

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The novel CFTR haplotype E583G/F508del in CFTR-related disorder.
Elisa De Paolis, Bruno Tilocca, Riccardo Inchingolo, Carla Lombardi, Alessia Perrucci, Giulia Maneri

Mol Biol Rep· July 2024

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Reversion to Normal of Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.
Elisabetta Tabolacci, Roberta Pietrobono, Giulia Maneri, Laura Remondini, Veronica Nobile

Genes (Basel)· February 2020

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