Not logged inCritical assessment of missense variant effect predictors on disease-relevant variant data
Rastogi, Ruchir; Chung, Ryan; Li, Sindy; Li, Chang; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Chennen, Kirsley; Weber, Thomas; Poch, Olivier; Ancien, Francois; Cia, Gabriel; Pucci, Fabrizio; Raimondi, Daniele; Vranken, Wim; Rooman, Marianne; Marquet, Celine; Olenyi, Tobias; Rost, Burkhard; Andreoletti, Gaia; Kamandula, Akash; Peng, Yisu; Bakolitsa, Constantina; Mort, Matthew; Cooper, David N.; Bergquist, Timothy; Pejaver, Vikas; Liu, Xiaoming; Radivojac, Predrag; Brenner, Steven E.; Ioannidis, Nilah M. .png)
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SaveShare Save IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTaMeyer, Corentin; Romero, Norma Beatriz; Evangelista, Teresinha; Cadot, Brunot; Laporte, Jocelyn; Jeannin-Girardon, Anne; Collet, Pierre; Ayadi, Ali; Chennen, Kirsley; Poch, Olivier Share Save Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stageOkutman, O.; Gurbuz, A. S.; Buyuk, U.; Real, E.; Leconte, R.; Chennen, K.; Mayer, C.; Muller, J.; Le May, N.; Viville, S. Share Save Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishEstrada-Cuzcano, Alejandro; Etard, Christelle; Delvallee, Clarisse; Stoetzel, Corinne; Schaefer, Elise; Scheidecker, Sophie; Geoffroy, Veronique; Schneider, Aline; Studer, Fouzia; Mattioli, Francesca; Chennen, Kirsley; Sigaudy, Sabine; Plassard, Damien; Poch, Olivier; Piton, Amelie; Strahle, Uwe; Muller, Jean; Dollfus, Helene Share Save Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root PatterningLaugel-Haushalter, Virginie; Morkmued, Supawich; Stoetzel, Corinne; Geoffroy, Veronique; Muller, Jean; Boland, Anne; Deleuze, Jean-Francois; Chennen, Kirsley; Pitiphat, Waranuch; Dollfus, Helene; Niederreither, Karen; Bloch-Zupan, Agnes; Pungchanchaikul, Patimaporn Share Save MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and ResearchersAllot, Alexis; Chennen, Kirsley; Nevers, Yannis; Poidevin, Laetitia; Kress, Arnaud; Ripp, Raymond; Thompson, Julie Dawn; Poch, Olivier; Lecompte, Odile Share Save Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic ProfilingNevers, Yannis; Prasad, Megana K.; Poidevin, Laetitia; Chennen, Kirsley; Allot, Alexis; Kress, Arnaud; Ripp, Raymond; Thompson, Julie D.; Dollfus, Helene; Poch, Olivier; Lecompte, Odile Share Save A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-GolgiStoetzel, Corinne; Bar, Severine; De Craene, Johan-Owen; Scheidecker, Sophie; Etard, Christelle; Chicher, Johana; Reck, Jennifer R.; Perrault, Isabelle; Geoffroy, Veronique; Chennen, Kirsley; Strahle, Uwe; Hammann, Philippe; Friant, Sylvie; Dollfus, Helene Share Save Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)Scheidecker, Sophie; Etard, Christelle; Pierce, Nathan W.; Geoffroy, Veronique; Schaefer, Elise; Muller, Jean; Chennen, Kirsley; Flori, Elisabeth; Pelletier, Valerie; Poch, Olivier; Marion, Vincent; Stoetzel, Corinne; Straehle, Uwe; Nachury, Maxence V.; Dollfus, Helene Share Save 
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