| 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 | 171 | 2014 |
| 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 | 64 | 2016 |
| Insights into ciliary genes and evolution from multi-level phylogenetic profiling Y Nevers, MK Prasad, L Poidevin, K Chennen, A Allot, A Kress, R Ripp, ... Molecular biology and evolution 34 (8), 2016-2034, 2017 | 59 | 2017 |
| Bardet‐Biedl syndrome: antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes L Mary, K Chennen, C Stoetzel, M Antin, A Leuvrey, E Nourisson, ... Clinical genetics 95 (3), 384-397, 2019 | 46 | 2019 |
| MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants K Chennen, T Weber, X Lornage, A Kress, J Böhm, J Thompson, ... PLoS One 15 (7), e0236962, 2020 | 42 | 2020 |
| Genetic evidence supporting the role of the calcium channel, CACNA1S, in tooth cusp and root patterning V Laugel-Haushalter, S Morkmued, C Stoetzel, V Geoffroy, J Muller, ... Frontiers in Physiology 9, 1329, 2018 | 16 | 2018 |
| Syndrome de Bardet-Biedl: cils et obésité-De la génétique aux approches intégratives K Chennen, MJ Scerbo, H Dollfus, O Poch, V Marion médecine/sciences 30 (11), 1034-1039, 2014 | 15 | 2014 |
| Bardet-Biedl syndrome: cilia and obesity-from genes to integrative approaches K Chennen, MJ Scerbo, H Dollfus, O Poch, V Marion Medecine Sciences: M/S 30 (11), 1034-1039, 2014 | 14 | 2014 |
| Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish A Estrada‐Cuzcano, C Etard, C Delvallée, C Stoetzel, E Schaefer, ... Human Mutation 41 (1), 240-254, 2020 | 9 | 2020 |
| Critical assessment of missense variant effect predictors on disease-relevant variant data R Rastogi, R Chung, S Li, C Li, K Lee, J Woo, DW Kim, C Keum, G Babbi, ... bioRxiv, 2024.06. 06.597828, 2024 | 8 | 2024 |
| MyGeneFriends: a social network linking genes, genetic diseases, and researchers A Allot, K Chennen, Y Nevers, L Poidevin, A Kress, R Ripp, JD Thompson, ... Journal of medical Internet research 19 (6), e6676, 2017 | 7 | 2017 |
| CeGAL: redefining a widespread fungal-specific transcription factor family using an in silico error-tracking approach C Mayer, A Vogt, T Uslu, N Scalzitti, K Chennen, O Poch, JD Thompson Journal of Fungi 9 (4), 424, 2023 | 4 | 2023 |
| IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa C Meyer, NB Romero, T Evangelista, B Cadot, J Laporte, ... Journal of Neuromuscular Diseases 11 (4), 855-870, 2024 | 1 | 2024 |
| INEX-MED: a Knowledge Graph to explore and link heterogeneous bio-medical data M Folschette, K Chennen, A Gaignard, R Redon, H Skaf-Molli, O Poch, ... JOBIM 2019, 2019 | 1 | 2019 |
| Graph-based machine learning model for weight prediction in protein–protein networks H Akid, K Chennen, G Frey, J Thompson, M Ben Ayed, N Lachiche BMC bioinformatics 25 (1), 349, 2024 | | 2024 |
| Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage O Okutman, AS Gürbüz, U Büyük, E Real, R Leconte, K Chennen, ... Journal of Assisted Reproduction and Genetics 41 (2), 311-322, 2024 | | 2024 |
| StopKB: a comprehensive knowledgebase for nonsense suppression therapies N Haas, JD Thompson, JP Renaud, K Chennen, O Poch Database 2024, baae108, 2024 | | 2024 |
| MYO-xIA: Quantification de marqueurs pathologiques sur coupes histologiques et exploitation de rapport de biopsie par intelligence artificielle explicative pour le diagnostic … A Jeannin-Girardon, P Collet, K Chennen, O Poch, N Romero, ... Journées de la Société Française de Myologie, 2022 | | 2022 |
| FP. 05 From the Muscle Atlas to an AI-based diagnostic tool C Meyer, E Lacene, M Beuvin, T Evangelista, J Laporte, ... Neuromuscular Disorders 32, S55, 2022 | | 2022 |
| Apprentissage automatique basé sur l'agrégation pour la prédiction de liens dans les réseaux d'interactions protéine-protéine. H Akid, K Chennen, G Frey, JD Thompson, MB Ayed, N Lachiche EGC, 481-482, 2022 | | 2022 |
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