Aldo Germani

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From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways

C. Battista, C. Napoli, P. Anibaldi, 2022, International journal of environmental research and public health.

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers

A. Pizzuti, C. Capalbo, M. Torrisi, 2020, Journal of clinical medicine.

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

C. Autore, A. Maruotti, M. Volpe, 2020, Journal of clinical medicine.

Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

A. Pizzuti, V. Salvati, G. Mastromoro, 2022, Diagnostics.

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

C. Autore, L. Chessa, M. Volpe, 2016, International journal of molecular sciences.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report

C. Autore, M. Torrisi, S. Rubattu, 2021, Molecular genetics and metabolism reports.

RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes

V. Jobanputra, K. Wrzeszczynski, G. Bhagat, 2021, Cancers.

Heterozygous Pathogenic Nonsense ATM Variant Resulting in Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2021 .

Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy

E. Pilozzi, T. Ranalli, M. Ferri, 2022, Biomedicines.

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders

A. Plebani, R. Meschini, L. Chessa, 2016, Journal of the Neurological Sciences.

Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?

C. Autore, A. Pizzuti, M. Volpe, 2023, Frontiers in Cardiovascular Medicine.

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

C. Autore, A. Pizzuti, M. Fabiani, 2023, Current issues in molecular biology.

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2023, Biomedicines.

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

R. Mancini, A. Pizzuti, G. Di Nardo, 2022, Diagnostics.

The role of genetic testing in suspected fulminant myocarditis: A case report

C. Autore, A. Pizzuti, M. Fabiani, 2023, Molecular genetics and metabolism reports.

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

A. Pizzuti, M. Torrisi, A. Lombardi, 2018, Oncotarget.

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

M. Fabiani, M. Piane, V. Visco, 2024, International Journal of Molecular Sciences.