Jean-Marie Ravel
Overview
Explore the profile of Jean-Marie Ravel including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
155
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Recent Articles
1.
Thomas H, Alix T, Renard E, Renaud M, Wourms J, Zuily S, et al.
J Med Genet
. 2024 Jun;
61(9):878-885.
PMID: 38937076
Background: Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ()-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual...
2.
Ravel J, Renaud M, Muller J, Becker A, Renard E, Remen T, et al.
Genome Med
. 2023 May;
15(1):39.
PMID: 37221613
Background: Array-CGH is the first-tier genetic test both in pre- and postnatal developmental disorders worldwide. Variants of uncertain significance (VUS) represent around 10~15% of reported copy number variants (CNVs). Even...
3.
Biehler M, Ravel J, Tir M, Calmels N, Schalk A
Mov Disord Clin Pract
. 2023 May;
10(5):845-847.
PMID: 37205239
No abstract available.
4.
Ravel J, Michaud M, Frismand S, Puisieux S, Banneau G, Benoist J, et al.
Parkinsonism Relat Disord
. 2023 Feb;
109:105310.
PMID: 36803911
No abstract available.
5.
Ravel J, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, et al.
Am J Med Genet A
. 2022 Aug;
188(11):3343-3349.
PMID: 35972031
Cutis laxa (CL) is a rare connective tissue disorder characterized by wrinkled, abundant and sagging skin, sometimes associated with systemic impairment. Biallelic alterations in latent transforming growth factor beta-binding protein...
6.
Hocquel A, Ravel J, Lambert L, Bonnet C, Banneau G, Kol B, et al.
Neurogenetics
. 2022 Jul;
23(4):241-255.
PMID: 35788923
ATL1-related spastic paraplegia SPG3A is a pure form of hereditary spastic paraplegia. Rare complex phenotypes have been described, but few data concerning cognitive evaluation or molecular imaging of these patients...
7.
Ostaszewski M, Niarakis A, Mazein A, Kuperstein I, Phair R, Orta-Resendiz A, et al.
Mol Syst Biol
. 2021 Dec;
17(12):e10851.
PMID: 34939300
No abstract available.
8.
Ostaszewski M, Niarakis A, Mazein A, Kuperstein I, Phair R, Orta-Resendiz A, et al.
Mol Syst Biol
. 2021 Oct;
17(10):e10387.
PMID: 34664389
We need to effectively combine the knowledge from surging literature with complex datasets to propose mechanistic models of SARS-CoV-2 infection, improving data interpretation and predicting key targets of intervention. Here,...
9.
Ravel J, Dreumont N, Mosca P, Smith D, Mendes M, Wiedemann A, et al.
Hum Mutat
. 2021 Sep;
42(12):1576-1583.
PMID: 34570399
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors...
10.
Mergnac J, Wiedemann A, Chery C, Ravel J, Namour F, Gueant J, et al.
Hum Genet
. 2021 Sep;
141(7):1269-1278.
PMID: 34495415
The emergence of next-generation sequencing enabled a cost-effective and straightforward diagnostic approach to genetic disorders using clinical exome sequencing (CES) panels. We performed a retrospective observational study to assess the...