Orazio Palumbo is an expert in Genetics at Casa Sollievo della Sofferenza (Italy). Orazio Palumbo has authored 186 publications, the most recent in 2026, and is an investigator in 1 clinical trial. SLR score: 414 (community average: 125). How the SLR is computed.

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Genetics

Subspecialties: Neurology - Biochemistry - Oncology

Full career – Last 3 years

Main Topics

Publications and Clinical Studies

Publications – Clinical Studies

Profile data updated on

Organizations

Career arc: 2007 - 2026

Source: PubMed

Casa Sollievo della Sofferenza

Publications Synthesis

Sources: PubMed, OpenAlex

Number : 186

Citations

Citations: 3 719 1st author: 18 Last author: 8 Unique author: 0


Best Journals

Breakdown by type

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Latest Publications

5 most recent indexed articles

Source: Pubmed

Title Journal Year Citations
Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.
PMID 42541364 — research design, genes, epilepsy, genetic testing, absenteeism, epilepsy, absence, phenotype, brain diseases, seizures, diagnosis, therapeutics, counseling
Epilepsia Open20261
Mutant Huntingtin disrupts neurogenic and astroglial programs via the EZH2-Let-7g-LIN28 axis with rescue by epigenetic modulators.
PMID 42463580 — cells, cell differentiation, cell death
Cell Death Differ20260
From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet.
PMID 42371714 — epilepsy, phenotype, diagnosis, dravet syndrome
Epileptic Disord20260
Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.
PMID 42353881 — genes, genomics, mothers, neoplasms, neurodevelopmental disorders, speech, neurodevelopment
Genes (Basel)20260
Clinical Variability Including Non-Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an Intragenic CTNNA3 Copy Number Variation.
PMID 42290130 — cardiomyopathy, dilated, genes, catenins, pedigree, genetics, medical, cardiomyopathies
Clin Genet20260

Clinical Studies 1

Sources: ClinicalTrials, EU CTIS

Synthesis

By phase:

N/A 1

By status:

Completed 1

By type:

Observational 1

By Monocentric/Multicentric:

monocentric 1
multicentric2to4 0
multicentric5to9 0
multicentricup10 0

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