Rita Selvatici

University of Ferrara — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index2.3kcitations139works4.12yr avg
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Research Topics

Muscle Physiology and Disorders(25), RNA Research and Splicing(13), Cell Adhesion Molecules Research(13), Genomics and Rare Diseases(13), RNA modifications and cancer(11)

Publications132 total

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Biomolecules·2025Open Access
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project
Orphanet Journal of Rare Diseases·2025· 2 citedOpen Access
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
Biomolecules·2025· 2 citedOpen Access
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Genome Research·2025· 16 citedOpen Access
184 ADSCaN: A Randomised Phase II study of Accelerated, Dose escalated, Sequential Chemo-radiotherapy in Non-Small Cell Lung Cancer. Trial registration number: ISRCTN47674500
Lung Cancer·2025
The role of the sympathetic nervous system in sexual orientation
2025Open Access
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs
Genes·2024· 2 citedOpen Access
Generation of a human induced pluripotent stem cell line (UNIFEi001-A) from a patient with Spinocerebellar ataxia type 1 (SCA1)
Stem Cell Research·2024Open Access
WITHDRAWN
2024Open Access
210P PDL-1 expression in gastric-type hepatocellular carcinoma
Annals of Oncology·2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
2024· 19 citedOpen Access
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype
European Journal of Medical Genetics·2024· 2 citedOpen Access
Cardiac conduction disorders in young adults: Clinical characteristics and genetic background of an underestimated population
Heart Rhythm·2024· 4 citedOpen Access
DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
Frontiers in Neurology·2024· 11 citedOpen Access
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
PLoS ONE·2023· 14 citedOpen Access
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern
Journal of Cardiovascular Medicine·2023· 2 cited
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Orphanet Journal of Rare Diseases·2023· 19 citedOpen Access
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
Scientific Reports·2023· 4 citedOpen Access
Brugada Syndrome: More than a Monogenic Channelopathy
Biomedicines·2023· 12 citedOpen Access
Supplementary Data - Cases from Merkel Cell Carcinomas Arising in Autoimmune Disease Affected Patients Treated with Biologic Drugs, Including Anti-TNF
2023Open Access
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Frequent Co-authors

Alessandra Ferlini(22), Francesca Gualandi(13), John Charles Rotondo(11), Mauro Tognon(11), Fernanda Martini(11), C. Scotton(9), Marcella Neri(8), Maria Sofia Falzarano(8), Sofia Falzarano(7), Enrico Bertini(7), Annarita Armaroli(7), Rachele Rossi(5), Cecilia Trabanelli(5), F. Fortunato(5), Silvia Marino(5), Susanna Spisani(4), Chiara Passarelli(4), Luciano Merlini(4), Adele D’Amico(4), Eugenio Mercuri(4)