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Paola Concolino

fondazione policlinico universitario agostino gemelli irccs

H指数:16

被引数:818

个人简介

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教育背景

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工作经历

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荣誉奖项

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Inherited Platelet GPIV Deficiency: First Description of a Series of Unrelated Patients with Bleeding Diathesis

遗传性血小板GPIV缺陷：与出血倾向相关的无关患者病例系列的首例报道

IF4.8

2026-08-270

OA

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

BRCA拷贝数改变在商业HRD检测中的增强检测：对卵巢癌精准肿瘤学的意义

International Journal of Molecular Sciences

IF4.9

2026-04-290

OAAI

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

临床意义显著BRCA大基因组重排的检测：一项比较NGS研究（在FFPE卵巢癌样本中）

Genes 2025, Vol. 16, Page 1052

IF2.8

2025-10-010

OAAI

Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association

EXPERIMENTAL DERMATOLOGY

IF3.1

2024-11-251

PRE

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

JOURNAL OF CLINICAL MEDICINE

IF2.9

2024-08-090

OAAI

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

ANNALS OF LABORATORY MEDICINE

IF3.9

2024-05-310

OAAI

Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia

妊娠期及先天性肾上腺增生症的产前管理

JOURNAL OF CLINICAL MEDICINE

IF2.9

2022-10-197

OAAI

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

JOURNAL OF CLINICAL MEDICINE

IF2.9

2022-07-0110

OAAI

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2022-01-247

OAAI

Genes and Pseudogenes: Complexity of the RCCX Locus and Disease

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2021-07-3026

OAAI

Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor

JOURNAL OF CLINICAL MEDICINE

IF2.9

2021-04-2318

OAAI

Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie

FRONTIERS IN ONCOLOGY

IF3.3

2021-02-245

OAAI

Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing

CLINICA CHIMICA ACTA

IF2.9

2021-02-0118

PREAI

Detection of BRCA1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

IF3.6

2019-08-2811

PREAI

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

CLINICA CHIMICA ACTA

IF2.9

2018-05-0133

PREAI

Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals

IF7.9

2017-12-0110

PREAI

Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory

CLINICA CHIMICA ACTA

IF2.9

2017-07-0119

PREAI

CYP21A2 intronic variants causing 21-hydroxylase deficiency

导致21-羟化酶缺乏症的CYP21A2内含子变体

METABOLISM-CLINICAL AND EXPERIMENTAL

IF11.9

2017-06-0112

PREAI

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome

BREAST CANCER RESEARCH AND TREATMENT

IF3

2017-05-0916

PREAI

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

IF3.6

2015-08-2429

PREAI