Edgard Verdura

Vall d'Hebron Institut de Recerca — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.1kcitations42works2.72yr avg
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Research Topics

RNA Research and Splicing(10), Muscle Physiology and Disorders(8), RNA and protein synthesis mechanisms(7), RNA modifications and cancer(7), Genomics and Rare Diseases(7)

Publications42 total

Reply to: “Unravelling the Complexity of <scp> <i>VPS16</i> </scp> Splicing: Clinical Implications and Unresolved Questions”
Movement Disorders·2026Open Access
Expanding the Genetic and Phenotypic Spectrum of <scp>DYT</scp> ‐ <scp> <i>VPS16</i> </scp> : The Importance of Splice‐Site Variants
Movement Disorders·2025· 2 citedOpen Access
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
The American Journal of Human Genetics·2025Open Access
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
European Journal of Human Genetics·2025· 3 citedOpen Access
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Nature Communications·2025Open Access
Additional Cover
Aging Cell·2025Open Access
Altered tubulin detyrosination due to <scp>SVBP</scp> malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Aging Cell·2024· 4 citedOpen Access
Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in <scp>RFC1</scp>‐Related Syndrome
Movement Disorders·2024
Clinical and Molecular Profiling in <scp>GNAO1</scp> Permits Phenotype–Genotype Correlation
Movement Disorders·2024· 15 citedOpen Access
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome Medicine·2023· 8 citedOpen Access
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Journal of Clinical Investigation·2023· 13 citedOpen Access
Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescence
Journal of Medical Genetics·2022· 11 citedOpen Access
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Journal of Molecular Diagnostics·2022· 27 citedOpen Access
Biallelic variants in <i>SLC35B2</i> cause a novel chondrodysplasia with hypomyelinating leukodystrophy
Brain·2022· 18 citedOpen Access
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology·2022· 22 citedOpen Access
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
The American Journal of Human Genetics·2021· 54 citedOpen Access
End‐Truncated <scp>LAMB1</scp> Causes a Hippocampal Memory Defect and a Leukoencephalopathy
Annals of Neurology·2021· 16 cited
Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments
Frontiers in Psychiatry·2021· 15 citedOpen Access
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Nature Communications·2021· 50 citedOpen Access
Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Brain·2021· 47 citedOpen Access
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Frequent Co-authors

Aurora Pujol(19), Agatha Schlüter(18), Agustí Rodríguez‐Palmero(13), Montserrat Ruíz(13), Carlos Casasnovas(12), Lidia González‐Quereda(10), P. Gallano(10), Stéphane Fourcade(10), Jonàs Juan‐Mateu(9), Laura Planas‐Serra(9), A. Nascimento(7), Valentina Vélez-Santamaría(7), Nathalie Launay(7), Montserrat Baiget(6), Alfons Macaya(6), Adolfo López de Munaín(6), Françoise Bergametti(5), Elisabeth Tournier‐Lasserve(5), Juan José Martínez(5), Dominique Hervé(4)