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Molecular Diagnosis & Therapy|February 17, 2018
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 GenePaola Concolino, Alessandra Costella
Cancer Genetics|January 16, 2016
Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine yearsPaola Concolino, Alessandra Costella, Ettore Capoluongo
Molecular Diagnosis & Therapy|April 13, 2019
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)Paola Concolino, Alessandra Costella, Rosa Maria Paragliola
Molecular Diagnosis & Therapy|July 2, 2020
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid ResistanceRosa Maria Paragliola, Alessandra Costella, Andrea Corsello, et al.
International Journal of Molecular Sciences|July 25, 2019
<i>BRCA1</i> and <i>BRCA2</i> Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance VariantsPaola Concolino, Gianfranco Gelli, Roberta Rizza, et al.
Metabolism: Clinical and Experimental|May 20, 2017
CYP21A2 intronic variants causing 21-hydroxylase deficiencyPaola Concolino, Roberta Rizza, Alessandra Costella, et al.
Human Genome Variation|May 16, 2018
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndromeAngelo Minucci, Paola Concolino, Maria De Bonis, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 11, 2014
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 mutationsPaola Concolino, Alessandra Costella, Angelo Minucci, et al.
Human Genome Variation|June 15, 2018
High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case reportAlessandra Costella, Rossella De Leo, Donatella Guarino, et al.
Molecular Diagnosis & Therapy|June 17, 2017
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer SyndromePaola Concolino, Roberta Rizza, Karl Hackmann, et al.
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