Paola Concolino

14PUBLICATIONS
31CO-AUTHORS
Cancer geneticsGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Solid tumours
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Publications (14)

|May 13, 2026
Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer.

|Sep 27, 2025
Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study.

Alessia Perrucci, Maria De Bonis, Giulia Maneri

|Aug 29, 2024
Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Elisa De Paolis, Giuseppina Raspaglio, Nunzia Ciferri

|Jun 03, 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.

Paola Concolino, Elisa De Paolis, Martina Rinelli

|May 24, 2024
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene.

Paola Concolino

|Jan 11, 2024
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi

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Frequent Collaborators

8 joint publications

Angelo Minucci

3 joint publications

Elisa De Paolis

3 joint publications

Camilla Nero

3 joint publications

Luciano Giacò