Charles Van Goethem

MobiDetails: online DNA variants interpretation

David Baux, Charles Van Goethem, Olivier Ardouin et al. · European Journal of Human Genetics · 2020 · 90 citations · Full text

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli et al. · Brain · 2022 · 43 citations · Full text

Genetics, Genetic Epidemiology, Pathology +21

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Aurélien Perrin, Raúl Juntas‐Morales, François Rivier et al. · Neuromuscular Disorders · 2020 · 24 citations · Full text

Genetics, Pathology, Molecular Genetics +20

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Kévin Yauy, David Baux, Henri Pégeot et al. · Journal of Molecular Diagnostics · 2018 · 22 citations

Bioinformatics, Long-read Sequencing, Dna Sequencing +15

MIAmS: microsatellite instability detection on NGS amplicons data

Fréderic Escudié, Charles Van Goethem, David Grand et al. · Bioinformatics · 2019 · 12 citations · Full text