Edgard Verdura

Barcelona, CT 08036, Spain

Last Updated: 09/26/2026

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Found 36 publications

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

Journal: International journal of molecular sciences

Published: June 04, 2026

Longitudinal BRAF ctDNA monitoring in melanoma reflects disease status and predicts relapse.

Longitudinal BRAF ctDNA monitoring in melanoma reflects disease status and predicts relapse.

Journal: Journal of dermatological science

Published: May 13, 2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".

Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: January 13, 2026

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 30, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Journal: Aging cell

Published: May 10, 2024

Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome.

Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 26, 2024

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Journal: Nature communications

Published: January 30, 2024

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: January 26, 2024

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Journal: Genome medicine

Published: February 08, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026