Giulia Maneri

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 12 publications

Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer.

Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer.

Journal: International journal of molecular sciences

Published: April 01, 2026

Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.

Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.

Journal: Targeted oncology

Published: October 06, 2025

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Journal: Genes

Published: September 30, 2025

Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study.

Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study.

Journal: Genes

Published: July 22, 2025

Comprehensive genomic profiling and clinico-pathologic characterization of primary ovarian leiomyosarcoma.

Comprehensive genomic profiling and clinico-pathologic characterization of primary ovarian leiomyosarcoma.

Journal: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society

Published: May 21, 2025

Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.

Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 27, 2025

Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.

Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.

Journal: Molecular biology reports

Published: January 05, 2025

G6PD Potenza: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.

G6PD Potenza: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.

Journal: Genes

Published: September 05, 2024

Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how.

Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how.

Journal: JNCI cancer spectrum

Published: August 06, 2024

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.

Journal: Molecular biology reports

Published: June 04, 2024

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.

Journal: Annals of laboratory medicine

Published: January 25, 2024

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.

Journal: Genes

Published: January 17, 2020

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Last Updated: 09/26/2026