Charles Van Goethem
Overview
Explore the profile of Charles Van Goethem including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
111
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0
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Recent Articles
11.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, et al.
Eur J Hum Genet
. 2020 Dec;
29(2):361.
PMID: 33303978
No abstract available.
12.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, et al.
Eur J Hum Genet
. 2020 Nov;
29(2):356-360.
PMID: 33161418
MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in the context of molecular diagnosis. It brings together in a single tool...
13.
Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, et al.
Neuromuscul Disord
. 2020 Oct;
30(11):877-887.
PMID: 33127292
Next generation sequencing (NGS) has allowed the titin gene (TTN) to be identified as a major contributor to neuromuscular disorders, with high clinical heterogeneity. The mechanisms underlying the phenotypic variability...
14.
Escudie F, Van Goethem C, Grand D, Vendrell J, Vigier A, Brousset P, et al.
Bioinformatics
. 2019 Oct;
PMID: 31647522
Motivation: Microsatellite instability (MSI) is a molecular marker of DNA mismatch repair deficiency frequently at play in oncogenesis. MSI testing is used for diagnostic, prognostic and therapeutic purposes in several...
15.
Vendrell J, Vilquin P, Larrieux M, Van Goethem C, Solassol J
J Mol Diagn
. 2018 Jul;
20(6):754-764.
PMID: 30055349
The recent deployment of next-generation sequencing approaches in routine laboratory analysis has considerably modified the landscape of BRCA1 and BRCA2 germline alteration detection in patients with a high risk of...
16.
Yauy K, Baux D, Pegeot H, Van Goethem C, Mathieu C, Guignard T, et al.
J Mol Diagn
. 2018 Apr;
20(4):465-473.
PMID: 29689380
Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the pathogenicity of variants identified in large...
17.
Bouam A, Levasseur A, Bonnet M, Borand L, Van Goethem C, Drancourt M, et al.
Genome Announc
. 2018 Feb;
6(7).
PMID: 29449406
sp. strain 4858 is a nontuberculous mycobacterium isolated from sputum in a Cambodian patient with a pulmonary infection. We report the first complete 5.6-Mbp-long genome sequence of strain 4858, with...
18.
Bouam A, Levasseur A, Bonnet M, Borand L, Van Goethem C, Drancourt M, et al.
Genome Announc
. 2018 Jan;
6(4).
PMID: 29371369
sp. strain 3519A is a nontuberculous mycobacterium isolated from sputum from a Cambodian patient with a pulmonary infection. We report here the first complete 7.3-Mbp-long genome sequence of sp. 3519A...