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BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants
International journal of molecular sciences, 2019-07, Vol.20 (14), p.3442
2019
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Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Molecular diagnosis & therapy, 2018-06, Vol.22 (3), p.261-280
2018
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Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years
Cancer genetics, 2016-01, Vol.209 (1), p.36-41
2016
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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Human genome variation, 2018-01, Vol.5 (1), p.2-4, Article 2
2018
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High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
Human genome variation, 2018-01, Vol.5 (1), p.10-4, Article 10
2018
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Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)
Molecular diagnosis & therapy, 2019-06, Vol.23 (3), p.353-368
2019
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A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis
Clinica chimica acta, 2018-05, Vol.480, p.173-179
2018
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CYP21A2 intronic variants causing 21-hydroxylase deficiency
Metabolism, clinical and experimental, 2017-06, Vol.71, p.46-51
2017
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A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance
Molecular diagnosis & therapy, 2020-08, Vol.24 (4), p.473-485
2020
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A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations
Clinica chimica acta, 2014-11, Vol.437, p.72-77
2014
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CYP21A2 genetics: When genotype does not fit phenotype
Clinical biochemistry, 2016-04, Vol.49 (6), p.524-525
2016
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Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype: Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5
Expert review of molecular diagnostics, 2016-07, Vol.16 (7), p.715-717
2016
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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, 2015-10, Vol.15 (10), p.1383-1403
2015
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Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome
Molecular diagnosis & therapy, 2017-10, Vol.21 (5), p.539-545
2017
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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Human genome variation, 2018, Vol.5, p.2-2
2018
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High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
Human genome variation, 2018, Vol.5, p.10-10
2018
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