Paola Concolino

Fondazione Policlinico Universitario A. Gemelli IRCCS Roma Italy

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Education 2003 MSc University La Sapienza, Rome, Italy 2009 Specialization degree in Clinical Pathology, La Sapienza University "School of Medicine", Rome, Italy 2011 to date PhD in Clinical Biochemistry and Clinical Molecular Biology, Catholic university of Rome, Italy Position 2008-present Medical Manager at Clinical Molecular Diagnostic Unit - Policlinico A. Gemelli, Rome, Italy

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Papers共 122 篇Author StatisticsCo-AuthorSimilar Experts

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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,Giulia Maneri, Francesca Brisighelli,Rita Trozzi,Simona Duranti,Luciano Giacò,Maria Piane,Alessia Preziosi,Arianna Panfili,Giovanni Scambia,Camilla Nero,Maria De Bonis,Angelo Minucci

Annals of laboratory medicine (2024)

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

Paola Concolino

CURRENT ISSUES IN MOLECULAR BIOLOGY（2024）

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An Integrated Multitool Analysis Contributes Elements to Interpreting Unclassified Factor IX Missense Variants Associated with Hemophilia B

Monica Sacco,Maria Francesca Testa,Antonietta Ferretti,Maria Basso,Stefano Lancellotti,Maira Tardugno,Leonardo Di Gennaro,Paola Concolino,Angelo Minucci, Claudia Spoliti,Alessio Branchini,Raimondo De Cristofaro

Journal of Thrombosis and Haemostasis（2024）

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Phenotypic Presentation of MEN1 C.758delc (p.ser253cysfs*28) Pathogenic Variant: a Case Report

Antonio Mancini,Paola Concolino,Edoardo Vergani,Alessandro Oliva, Giuseppe Macis,Emanuela Traini,Esther Diana Rossi

OXFORD MEDICAL CASE REPORTS（2024）

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Chimeric Genes Causing 11Β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis

Paola Concolino

Molecular diagnosis & therapyno. 2 (2024): 215-224

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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, Ilaria Zangrilli,Claudio Ricciardi Tenore,Andrea Urbani,Pietro Manuel Ferraro,Angelo Minucci,Paola Concolino

Journal of Clinical Medicineno. 16 (2024): 4682-4682

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Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

Domizia Pasquetti, Annalisa Gazzellone,Salvatore Rossi,Daniela Orteschi, Federica Francesca L'Erario,Paola Concolino,Angelo Minucci,Carlo Dionisi-Vici,Maurizio Genuardi,Gabriella Silvestri,Pietro Chiurazzi

International Journal of Molecular Sciences（2023）

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Identification and Molecular Characterization of a Novel Large-Scale Variant (exons 4_18 Loss) in the LDLR Gene As a Cause of Familial Hypercholesterolaemia in an Italian Family

Paola Concolino,Elisa De Paolis,Simona Moffa,Maria Elisabetta Onori,Laura Soldovieri,Claudio Ricciardi Tenore,Maria De Bonis,Claudio Rabacchi,Concetta Santonocito,Martina Rinelli,Sebastiano Calandra,Andrea Giaccari,Andrea Urbani,Angelo Minucci

Genesno. 6 (2023): 1275-1275

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Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort

Elisa De Paolis,Bruno Tilocca, Carla Lombardi,Maria De Bonis,Paola Concolino,Maria Elisabetta Onori,Claudio Ricciardi Tenore,Alessia Perrucci,Paola Roncada,Ettore Capoluongo,Andrea Urbani,Angelo Minucci,Concetta Santonocito

GENES（2023）

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Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Paola Concolino,Alessia Perrucci,Cinzia Carrozza,Andrea Urbani

Molecular diagnosis & therapyno. 5 (2023): 621-630

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Author Statistics

#Papers: 122

#Citation: 1920

H-Index: 23

G-Index: 39

Sociability: 6

Diversity: 3

Activity: 11

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