Aldo Germani | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort	ANNALS OF LABORATORY MEDICINE	2024
Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2024
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy	CURRENT ISSUES IN MOLECULAR BIOLOGY	2023
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?	FRONTIERS IN CARDIOVASCULAR MEDICINE	2023
The role of genetic testing in suspected fulminant myocarditis: A case report	MOLECULAR GENETICS AND METABOLISM REPORTS	2023
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility	BIOMEDICINES	2023
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer	DIAGNOSTICS	2022
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways	INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH	2022
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome	DIAGNOSTICS	2022
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	BIOMEDICINES	2022
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report	MOLECULAR GENETICS AND METABOLISM REPORTS	2021
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	CANCERS	2021
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing	JOURNAL OF CLINICAL MEDICINE	2020
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers	JOURNAL OF CLINICAL MEDICINE	2020
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants. An ENIGMA resource to support clinical variant classification	HUMAN MUTATION	2019
Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline	ONCOTARGET	2018
Nano-mechanical characterization of ataxia telangiectasia cells treated with dexamethasone	CELL BIOCHEMISTRY AND BIOPHYSICS	2017
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2016
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders	JOURNAL OF THE NEUROLOGICAL SCIENCES	2016
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38	AUTOPHAGY	2015