Flavio Faletra
Udine, 33100, Italy
Last Updated: 09/26/2026
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Found 112 publications
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.
Journal: medRxiv : the preprint server for health sciences
Published: January 02, 2026
Efficacy of anakinra in genetically associated recurrent pericarditis.
Journal: Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
Published: December 11, 2025
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP.
Journal: Genes
Published: November 17, 2025
Prognostic role of genetic variants in recurrent pericarditis.
Journal: International journal of cardiology
Published: June 22, 2025
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant.
Journal: Clinical case reports
Published: May 09, 2025
A novel spliceosomopathy caused by de novo SF3B3 variants.
Journal: Genome medicine
Published: April 26, 2025
From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome.
Journal: Frontiers in immunology
Published: April 14, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Journal: The Journal of clinical investigation
Published: January 28, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Journal: Human genetics
Published: October 23, 2024
Last Updated: 09/26/2026