| 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 | 345 | 2018 |
| 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 | 303 | 2014 |
| 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 | 170 | 2014 |
| 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 | 147* | 2003 |
| 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 | 145 | 2016 |
| 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 | 135 | 2012 |
| 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 | 119 | 2011 |
| 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 | 92 | 2015 |
| 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 | 77 | 2016 |
| 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 | 73 | 2015 |
| 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 | 70 | 2019 |
| 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 | 67 | 2017 |
| 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 | 66 | 2020 |
| 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 | 63 | 2016 |
| 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 | 62 | 2021 |
| 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 | 50 | 2015 |
| LEON: multiple aLignment Evaluation Of Neighbours. PO Thompson JD, Prigent V Nucleic Acids Res. 24 (32(4)), 1298-307, 2004 | 50* | 2004 |
| 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, ... Frontiers in Genetics 10, 21, 2019 | 41 | 2019 |
| 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 | 31 | 2021 |
| 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 | 30 | 2018 |