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Roberta Giansante
Observed name:
R. Giansante
Institution:
University of Chieti-Pescara
Observed institution:
University of Chieti-Pescara
ORCID:
0009-0000-8130-0897
Observed ORCID:
0009-0000-8130-0897
OpenAlex ID:
A5061666825
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies
2023
·
Ilaria Angilletta
, Rossella Ferrante
, et al.
·
International Journal of Molecular Sciences
·
76
PDF
OCT analysis and MPOD assessment in patients affected by retinitis pigmentosa
2024
·
Maria Ludovica Ruggeri
, Luca Belloni Baroni
, et al.
·
Scientific Reports
·
7
Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics
2026
·
Lucrezia Pilenzi
, Vincenzo Scorrano
, et al.
·
Genes
·
6
PDF
Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2
2023
·
S. Di Rado
, R. Giansante
, et al.
·
Cancers
·
6
PDF
Desmosomal Versus Non-Desmosomal Arrhythmogenic Cardiomyopathies: A State-of-the-Art Review
2025
·
Kristian Galanti
, Lorena Iezzi
, et al.
·
Cardiogenetics
·
3
PDF
The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects
2024
·
Lucrezia Pilenzi
, Federico Anaclerio
, et al.
·
Cancers
·
3
Dilated Cardiomyopathy Evaluation with Imagenomics: Combining Multimodal Cardiovascular Imaging and Genetics
2025
·
Kristian Galanti
, Ghaith Sharaf Dabbagh
, et al.
·
ESC Heart Failure
·
2
PDF
The polygenic risk score in the breast cancer treatment
2024
·
Federico Anaclerio
, Lucrezia Pilenzi
, et al.
·
Journal of Translational Genetics and Genomics
·
2
PDF
Vitamins and retinitis pigmentosa: a single-center survey from an Italian cohort
2026
·
Maria Ludovica Ruggeri
, Alberto Quarta
, et al.
·
Therapeutic Advances in Ophthalmology
Expanded Carrier Screening for Prevention of Genetic Recessive Diseases
2025
·
Maurizio Poli
, Lucrezia Pilenzi
, et al.
·
Elsevier eBooks
First case of two supernumerary markers derived from chromosome 5 and chromosome 8
2022
·
Roberta Giansante
, Chiara Palka Bayard De Volo
, et al.
·
Molecular Cytogenetics
PDF
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Works count:
11
Citation count:
105
H-index:
4
I10-index:
1
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