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Geoffroy Véronique
Geoffroy Véronique
U1112 INSERM
Verified email at inserm.fr
Title
Cited by
Cited by
Year
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ...
Journal of medical genetics 51 (11), 724-736, 2014
2902014
AnnotSV: an integrated tool for structural variations annotation
V Geoffroy, Y Herenger, A Kress, C Stoetzel, A Piton, H Dollfus, J Muller
Bioinformatics 34 (20), 3572-3574, 2018
2492018
Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
S Scheidecker, C Etard, NW Pierce, V Geoffroy, E Schaefer, J Muller, ...
Journal of medical genetics 51 (2), 132-136, 2014
1582014
PipeAlign: A new toolkit for protein family analysis.
PO Plewniak F, Bianchetti L, Brelivet Y, Carles A, Chalmel F, Lecompte O ...
Nucleic Acids Res. 1 (31(13)), 3829-32, 2003
144*2003
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes
C Redin, S Le Gras, O Mhamdi, V Geoffroy, C Stoetzel, MC Vincent, ...
Journal of medical genetics 49 (8), 502-512, 2012
1332012
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
MK Prasad, V Geoffroy, S Vicaire, B Jost, M Dumas, S Le Gras, M Switala, ...
Journal of medical genetics 53 (2), 98-110, 2016
1282016
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects
A Bloch-Zupan, X Jamet, C Etard, V Laugel, J Muller, V Geoffroy, ...
The American Journal of Human Genetics 89 (6), 773-781, 2011
1152011
VaRank: a simple and powerful tool for ranking genetic variants
V Geoffroy, C Pizot, C Redin, A Piton, N Vasli, C Stoetzel, A Blavier, ...
PeerJ 3, e796, 2015
862015
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
E Schaefer, C Stoetzel, S Scheidecker, V Geoffroy, MK Prasad, C Redin, ...
Journal of human genetics 61 (5), 447-450, 2016
742016
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
S Scheidecker, C Etard, L Haren, C Stoetzel, S Hull, G Arno, V Plagnol, ...
The American Journal of Human Genetics 96 (4), 666-674, 2015
662015
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
A Quartier, H Poquet, B Gilbert-Dussardier, M Rossi, AS Casteleyn, ...
European Journal of Human Genetics 25 (4), 423-431, 2017
652017
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
C Stoetzel, S Bär, JO De Craene, S Scheidecker, C Etard, J Chicher, ...
Nature communications 7 (1), 13586, 2016
562016
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
A Kröll‐Hermi, F Ebstein, C Stoetzel, V Geoffroy, E Schaefer, ...
EMBO molecular medicine 12 (7), e11861, 2020
522020
Rare de novo missense variants in RNA helicase DDX6 cause intellectual disability and dysmorphic features and lead to P-body defects and RNA dysregulation
C Balak, M Benard, E Schaefer, S Iqbal, K Ramsey, M Ernoult-Lange, ...
The American Journal of Human Genetics 105 (3), 509-525, 2019
492019
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
M Huckert, C Stoetzel, S Morkmued, V Laugel-Haushalter, V Geoffroy, ...
Human molecular genetics 24 (11), 3038-3049, 2015
482015
LEON: multiple aLignment Evaluation Of Neighbours.
PO Thompson JD, Prigent V
Nucleic Acids Res. 24 (32(4)), 1298-307, 2004
48*2004
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
V Geoffroy, T Guignard, A Kress, JB Gaillard, T Solli-Nowlan, A Schalk, ...
Nucleic acids research 49 (W1), W21-W28, 2021
392021
Identification and characterization of known biallelic mutations in the IFT27 (BBS19) gene in a novel family with Bardet-Biedl syndrome
E Schaefer, C Delvallée, L Mary, C Stoetzel, V Geoffroy, J Muller
Frontiers in Genetics 10, 433219, 2019
342019
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome
C Delvallée, S Nicaise, M Antin, AS Leuvrey, E Nourisson, CC Leitch, ...
Clinical genetics 99 (2), 318-324, 2021
272021
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
V Geoffroy, C Stoetzel, S Scheidecker, E Schaefer, I Perrault, S Bär, ...
Human Mutation 39 (7), 983-992, 2018
272018
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