Olivier Ardouin
Overview
Explore the profile of Olivier Ardouin including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
6
Citations
57
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Benkirane M, Bonhomme M, Morsy H, Safgren S, Marelli C, Chaussenot A, et al.
Brain
. 2024 Jun;
147(11):3681-3689.
PMID: 38884572
Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis...
2.
Yauy K, Van Goethem C, Pegeot H, Baux D, Guignard T, Theze C, et al.
Int J Mol Sci
. 2023 Apr;
24(8).
PMID: 37108493
The transition from targeted to exome or genome sequencing in clinical contexts requires quality standards, such as targeted sequencing, in order to be fully adopted. However, no clear recommendations or...
3.
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, et al.
Brain
. 2022 Jul;
145(11):3770-3775.
PMID: 35883251
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological...
4.
Wells C, Boursier G, Yauy K, Ruiz-Pallares N, Mechin D, Ruault V, et al.
Eur J Hum Genet
. 2022 Jun;
30(9):1076-1082.
PMID: 35729264
This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The...
5.
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.
6.
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...