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Flavio Faletra

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Docenti di ruolo di IIa fascia

University of Udine

Italy

Research Interests

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Professors in Italy Professors in Neuropsychology Neuropsychology professors in Italy

Recent Grants

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A novel spliceosomopathy caused by SF3B3 mutations: from clinical to functional data

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Identification of the genetic component of dyslexia as support for its early diagnosis

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Optimization of exome analysis methods for the diagnosis of undiagnosed rare diseases

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Articles (20)

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2026

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2023

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2023

Collaborators (14)

Giuseppe Limongelli

University of Campania “Luigi Vanvitelli”

ITALY

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Anna Mª Cueto-González

Médico Consulta Genética Clínica

Hospital Universitari Vall d'Hebron

SPAIN

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Giuseppe Damante

ITALY

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Andrea Riccio

Professor of Genetics

ITALY

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Giorgia Girotto

University of Trieste

ITALY

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Valentino Collini

University of Udine

ITALY

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Tzung-Chien Hsieh

University Hospital Bonn

GERMANY

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Nichole Link

University of Utah

UNITED STATES

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Alessandro Mussa

Deputy Director, Director for Research

Università degli Studi di Torino

ITALY

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Federica Baldan

Università degli Studi di Udine

ITALY

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catia mio

University of Udine

ITALY

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Himanshu Goel

University of Newcastle Australia

AUSTRALIA

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Gael Nicolas

PUPH

University of Rouen

FRANCE

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Giulio Piluso

University of Campania “Luigi Vanvitelli”

ITALY

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Flavio Faletra

Research Interests

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Recent Grants

Articles (20)

A novel spliceosomopathy caused by de novo SF3B3 variants

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders

Efficacy of anakinra in genetically associated recurrent pericarditis

Further characterization of the BRSK2-associated neurodevelopmental disorder

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

The molecular landscape of hereditary ataxia: a single-center study

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP

A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome

Hydrops fetalis associated with SARS-CoV-2 placentitis and de novo CDK13 mutation: An integrated genetic and histological analysis

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

Prognostic role of genetic variants in recurrent pericarditis

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Genetic variants in patients with recurrent pericarditis

Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma–affected patients: a pilot study

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Collaborators (14)

Giuseppe Limongelli

Anna Mª Cueto-González

Giuseppe Damante

Andrea Riccio

Giorgia Girotto

Valentino Collini

Tzung-Chien Hsieh

Nichole Link

Alessandro Mussa

Federica Baldan

catia mio

Himanshu Goel

Gael Nicolas

Giulio Piluso

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