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Liedewei Van de Vondel | Researchclopedia

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Liedewei Van de Vondel

University of Miami ORCID

21

Works

151

Citations

7

h-index

6

i10-index

Research Topics

Genetic Neurodegenerative Diseases Hereditary Neurological Disorders Mitochondrial Function and Pathology

Affiliations

Hospital Sant Joan de Déu Barcelona2020–2020

University of Miami2025–2025

University of Antwerp2020–2025

Dr. John T. Macdonald Foundation2025–2025

Institut de Recerca Sant Joan de Déu2020–2020

Top Works

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Adriana Rebelo,Ariel Ruiz,et al.

202230 citations

Genomics and Rare Diseases

Cardiomyopathy and Myosin Studies

De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Liedewei Van de Vondel,Jonathan De Winter,et al.

202225 citations

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert,Lydia Sagath,et al.

202419 citations

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert,Lydia Sagath,et al.

202518 citations

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German Demidov,Steven Laurie,et al.

202414 citations

Translational Diagnostics

Jordi Pijuan,María Rodríguez-Sanz,et al.

202013 citations

Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias

Liedewei Van de Vondel,Jonathan De Winter,et al.

20248 citations

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov,Burcu Yaldiz,et al.

20245 citations

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease

Vicente A. Yépez,German Demidov,et al.

20253 citations