Maria Piane | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease	FRONTIERS IN NEUROLOGY	2024
Seminological, hormonal and ultrasonographic features of male factor infertility due to genetic causes: results from a large monocentric retrospective study	JOURNAL OF CLINICAL MEDICINE	2024
Identification of a False-positive Multiplex Ligationdependent 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	2024
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
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene	MOVEMENT DISORDERS CLINICAL PRACTICE	2023
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
ENIGMA CHEK2gether Project. A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk	CLINICAL CANCER RESEARCH	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL 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
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2023
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors	GENES	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2023
Impact of the COVID-19 Pandemic on Clinical Pathways for Non-SARS-CoV-2 Related Diseases in the Lazio Region, Italy	INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH	2022
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache: Expanding the genotypic spectrum of CADASIL?	CLINICAL GENETICS	2022
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