Edgard Verdura

8PUBLICATIONS
34CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Autonomic nervous systemOptical technologyInfant and child healthPsychology of ageing
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Publications (8)

|Jul 28, 2026
Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

|Aug 30, 2022
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.

Edgard Verdura, Bruno Senger, Miquel Raspall-Chaure

|Nov 27, 2020
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

Agustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura

|May 16, 2020
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Daphné Lehalle, Pierre Vabres, Arthur Sorlin

|Dec 20, 2019
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

Edgard Verdura, Agatha Schlüter, Gorka Fernández-Eulate

|Oct 07, 2019
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Edgard Verdura, Carme Fons, Agatha Schlüter

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Frequent Collaborators

5 joint publications

Aurora Pujol

2 joint publications

Carlos Casasnovas

1 joint publications

Daphné Lehalle

1 joint publications

Benjamin Cogné