Barbara Vona

60PUBLICATIONS
298CO-AUTHORS
Neurology and neuromuscular diseasesGenome structure and regulationMedical devicesGene mappingOrthodontics and dentofacial orthopaedics
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Publications (60)

|Oct 29, 2026
Expanding the genetic spectrum of inherited peripheral neuropathies in complex neurogenetic disorders using whole-exome sequencing.

|Oct 24, 2026
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration.

|Sep 07, 2026
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing Loss.

|Jul 29, 2026
PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery.

|Jul 18, 2026
Enhancer Regulation of OSR2 in Mandibular Incisor Agenesis Susceptibility.

|May 30, 2026
A comparative survey of functional evidence use in hearing and vision loss genetics.

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Frequent Collaborators

14 joint publications

Reza Maroofian

13 joint publications

Henry Houlden

11 joint publications

Stephanie Efthymiou

8 joint publications

Thomas Haaf