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Author

Charles Van Goethem

Observed names: C. Van Goethem, C. VanGoethem, Charles VAN GOETHEM, Charles Vangoethem, Charles Van Goethem, GOETHEM, Charles VAN, Goethem, Charles Van, Van Goethem, Charles, van Goethem, C., van Goethem, Charles
Observed institutions: University of Siena, Centre National de la Recherche Scientifique, Inserm, Université de Montpellier, Physiologie et Médecine Expérimentale du Coeur et des Muscles, Centre Hospitalier Universitaire de Montpellier, Assistance Publique – Hôpitaux de Paris, Institut de Génétique Moléculaire de Montpellier, Institut Universitaire de Recherche Clinique, Hôpital Bichat-Claude-Bernard, Hôpital Arnaud de Villeneuve
ORCID: 0000-0002-8769-5719
Observed ORCID: 0000-0002-8769-5719
OpenAlex ID: A5067313839
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
2023 · Jean-Madeleine de Sainte Agathe, Mathilde Filser, et al. · Human Genomics · 200
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MobiDetails: online DNA variants interpretation
2020 · David Baux, Charles Van Goethem, et al. · European Journal of Human Genetics · 103
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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
2022 · Mehdi Benkirane, Dylan Da Cunha, et al. · Brain · 42
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MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
2018 · Kevin Yauy, David Baux, et al. · Journal of Molecular Diagnostics · 23
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies
2020 · Aurélien Perrin, Raul Juntas Morales, et al. · Neuromuscular Disorders · 21
MIAmS: microsatellite instability detection on NGS amplicons data
2019 · Frédéric Escudié, Charles Van Goethem, et al. · Bioinformatics · 14
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
2024 · Mehdi Benkirane, Marion Bonhomme, et al. · Brain · 12
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ifCNV: A novel isolation-forest-based package to detect copy-number variations from various targeted NGS datasets
2022 · Simon Cabello-Aguilar, Julie A. Vendrell, et al. · Molecular Therapy — Nucleic Acids · 11
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Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection
2018 · Julie A. Vendrell, Paul Vilquin, et al. · Journal of Molecular Diagnostics · 9
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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
2022 · C. Liautard-Haag, G. Durif, et al. · Scientific Reports · 7
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Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
2022 · Aurélien Perrin, Charles Van Goethem, et al. · Journal of Molecular Diagnostics · 7
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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
2024 · Christel Vaché, Valérie Faugère, et al. · European Journal of Human Genetics · 6
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Titin copy number variations associated with dominant inherited phenotypes
2023 · Aurélien Perrin, Corinne Métay, et al. · Journal of Medical Genetics · 6
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Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
2024 · Benedicte Alary, Pascal Cintas, et al. · Clinical Immunology · 5
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation
2024 · Dylan Da Cunha, Julie Miro, et al. · Cellular and Molecular Life Sciences · 5
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Correction: MobiDetails: online DNA variants interpretation
2020 · David Baux, Charles Van Goethem, et al. · European Journal of Human Genetics · 5
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Missense variants in TUBA4A cause myo-tubulinopathies
2026 · Mridul Johari, Chiara Folland, et al. · Brain · 3
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
2023 · Kevin Yauy, Charles Van Goethem, et al. · International Journal of Molecular Sciences · 3
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Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons
2024 · Aurélien Perrin, Rocio Garcia-Uzquiano, et al. · International Journal of Molecular Sciences · 2
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Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters
2024 · Morsy, Heba, Benkirane, Mehdi, et al. · European Journal of Human Genetics · 2
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MobiCT: a UMI-based circulating tumor DNA analysis pipeline
2025 · Simon Cabello-Aguilar, Charles Van Goethem, et al. · NAR Genomics and Bioinformatics · 1
Complete Genome Sequence of Mycobacterium sp. Strain 3519A
2018 · Amar Bouam, Anthony Levasseur, et al. · Genome Announcements · 1
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2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing
2026 · Emmanuelle Pion, Mireille Cossée, et al. · Journal of Neuromuscular Diseases
MobiDeep: an AI-based meta-score for scoring non-coding DNA variations
2026 · Abdelhakim Bouazzaoui, Jean-Madeleine de Sainte Agathe, et al. · Research Square
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SimCab-CHU/MobiCT: MobiCT
2025 · SimCab-CHU, Ouss, et al. · Zenodo (CERN European Organization for Nuclear Research)
Works count: 33
Citation count: 488
H-index: 9
I10-index: 8
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