Raffaella Cascella
Overview
Explore the profile of Raffaella Cascella including associated specialties, affiliations and a list of published articles.
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Articles
71
Citations
664
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Recent Articles
1.
Zampatti S, Farro J, Peconi C, Cascella R, Strafella C, Calvino G, et al.
Genes (Basel)
. 2025 Jan;
16(1).
PMID: 39858576
Background/objectives: Artificial intelligence and large language models like ChatGPT and Google's Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini's potential utility...
2.
Trastulli G, Calvino G, Papasergi B, Megalizzi D, Peconi C, Zampatti S, et al.
Diagnostics (Basel)
. 2025 Jan;
15(2).
PMID: 39857032
: Centralizing genetic sequencing in specialized facilities is pivotal for reducing the costs associated with diagnostic testing. These centers must be able to verify data quality and ensure sample integrity....
3.
Calvino G, Peconi C, Strafella C, Trastulli G, Megalizzi D, Andreucci S, et al.
Genes (Basel)
. 2025 Jan;
15(12.
PMID: 39766917
Recent advancements in Next-Generation Sequencing (NGS) technologies have revolutionized genomic research, presenting unprecedented opportunities for personalized medicine and population genetics. However, issues such as data silos, privacy concerns, and regulatory...
4.
Megalizzi D, Trastulli G, Colantoni L, Proietti Piorgo E, Primiano G, Sancricca C, et al.
Int J Mol Sci
. 2024 Oct;
25(20).
PMID: 39456731
Rare diseases are heterogeneous diseases characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge...
5.
Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, et al.
Clin Epigenetics
. 2024 Oct;
16(1):148.
PMID: 39438900
Background: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and...
6.
Trastulli G, Megalizzi D, Calvino G, Andreucci S, Zampatti S, Strafella C, et al.
Genes (Basel)
. 2024 Sep;
15(9).
PMID: 39336749
Autosomal dominant retinitis pigmentosa (AD-RP) is caused by several genes, among which is one of the most investigated. This article will be focused on and its role in explaining AD-RP...
7.
Zampatti S, Peconi C, Megalizzi D, Calvino G, Trastulli G, Cascella R, et al.
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674356
Artificial intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use, ChatGPT holds a prominent position,...
8.
Strafella C, Colantoni L, Megalizzi D, Trastulli G, Proietti Piorgo E, Primiano G, et al.
Clin Genet
. 2023 Dec;
105(3):335-339.
PMID: 38041579
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%-30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is...
9.
Cusumano A, Falsini B, DAmbrosio M, DApolito F, Sebastiani J, Levialdi Ghiron J, et al.
Case Rep Ophthalmol
. 2023 Nov;
14(1):626-639.
PMID: 38023612
Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1...
10.
Strafella C, Caputo V, Bortolani S, Torchia E, Megalizzi D, Trastulli G, et al.
Front Genet
. 2023 Sep;
14:1235589.
PMID: 37674478
Despite the progress made in the study of Facioscapulohumeral Dystrophy (FSHD), the wide heterogeneity of disease complicates its diagnosis and the genotype-phenotype correlation among patients and within families. In this...