Charles Van Goethem

3PUBLICATIONS
13CO-AUTHORS
Gene mappingEpigenetics (incl. genome methylation and epigenomics)
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Publications (3)

|Jul 05, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Christel Vaché, Valérie Faugère, David Baux

|Mar 21, 2024
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.

Dylan Da Cunha, Julie Miro, Charles Van Goethem

|Apr 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.

Kevin Yauy, Charles Van Goethem, Henri Pégeot

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