Graph-based machine learning model for weight prediction in protein–protein networks von Akid, Hajer, Chennen, Kirsley, Frey, Gabriel, Thompson, Julie, Ben Ayed, Mounir, Lachiche, Nicolas

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MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants von Chennen, Kirsley, Weber, Thomas, Lornage, Xaviere, Kress, Arnaud, Bohm, Johann, Thompson, Julie, Laporte, Jocelyn, Poch, Olivier

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A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi von Stoetzel, Corinne, Bär, Séverine, De Craene, Johan-Owen, Scheidecker, Sophie, Etard, Christelle, Chicher, Johana, Reck, Jennifer R., Perrault, Isabelle, Geoffroy, Véronique, Chennen, Kirsley, Strähle, Uwe, Hammann, Philippe, Friant, Sylvie, Dollfus, Hélène

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CeGAL: Redefining a Widespread Fungal-Specific Transcription Factor Family Using an In Silico Error-Tracking Approach von Mayer, Claudine, Vogt, Arthur, Uslu, Tuba, Scalzitti, Nicolas, Chennen, Kirsley, Poch, Olivier, Thompson, Julie D

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning von Laugel-Haushalter, Virginie, Morkmued, Supawich, Stoetzel, Corinne, Geoffroy, Véronique, Muller, Jean, Boland, Anne, Deleuze, Jean-François, Chennen, Kirsley, Pitiphat, Waranuch, Dollfus, Hélène, Niederreither, Karen, Bloch-Zupan, Agnès, Pungchanchaikul, Patimaporn

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StopKB: a comprehensive knowledgebase for nonsense suppression therapies von Haas, Nicolas, Thompson, Julie Dawn, Renaud, Jean-Paul, Chennen, Kirsley, Poch, Olivier

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Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling von Nevers, Yannis, Prasad, Megana K, Poidevin, Laetitia, Chennen, Kirsley, Allot, Alexis, Kress, Arnaud, Ripp, Raymond, Thompson, Julie D, Dollfus, Hélène, Poch, Olivier, Lecompte, Odile

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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18) von Scheidecker, Sophie, Etard, Christelle, Pierce, Nathan W, Geoffroy, Véronique, Schaefer, Elise, Muller, Jean, Chennen, Kirsley, Flori, Elisabeth, Pelletier, Valérie, Poch, Olivier, Marion, Vincent, Stoetzel, Corinne, Strähle, Uwe, Nachury, Maxence V, Dollfus, Hélène

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FP.05 From the Muscle Atlas to an AI-based diagnostic tool von Meyer, C., Lacene, E., Beuvin, M., Evangelista, T., Laporte, J., Jeannin-Girardon, A., Collet, P., Poch, O., Romero, N., Chennen, K., Cadot, B.

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Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes von Mary, Laura, Chennen, Kirsley, Stoetzel, Corinne, Antin, Manuela, Leuvrey, Anne, Nourisson, Elsa, Alanio‐Detton, Elisabeth, Antal, Maria C., Attié‐Bitach, Tania, Bouvagnet, Patrice, Bouvier, Raymonde, Buenerd, Annie, Clémenson, Alix, Devisme, Louise, Gasser, Bernard, Gilbert‐Dussardier, Brigitte, Guimiot, Fabien, Khau Van Kien, Philippe, Leroy, Brigitte, Loget, Philippe, Martinovic, Jelena, Pelluard, Fanny, Perez, Marie‐Josée, Petit, Florence, Pinson, Lucile, Rooryck‐Thambo, Caroline, Poch, Olivier, Dollfus, Hélène, Schaefer, Elise, Muller, Jean

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MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers von Allot, Alexis, Chennen, Kirsley, Nevers, Yannis, Poidevin, Laetitia, Kress, Arnaud, Ripp, Raymond, Thompson, Julie Dawn, Poch, Olivier, Lecompte, Odile

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IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa von Meyer, Corentin, Romero, Norma Beatriz, Evangelista, Teresinha, Cadot, Brunot, Laporte, Jocelyn, Jeannin-Girardon, Anne, Collet, Pierre, Ayadi, Ali, Chennen, Kirsley, Poch, Olivier

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Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish von Estrada‐Cuzcano, Alejandro, Etard, Christelle, Delvallée, Clarisse, Stoetzel, Corinne, Schaefer, Elise, Scheidecker, Sophie, Geoffroy, Véronique, Schneider, Aline, Studer, Fouzia, Mattioli, Francesca, Chennen, Kirsley, Sigaudy, Sabine, Plassard, Damien, Poch, Olivier, Piton, Amélie, Strahle, Uwe, Muller, Jean, Dollfus, Hélène

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Maladies rares et "Big Data" : solutions bioinformatiques vers une analyse guidée par les connaissances : applications aux ciliopathies von Chennen, Kirsley

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Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches von Chennen, Kirsley, Scerbo, Maria Julia, Dollfus, Hélène, Poch, Olivier, Marion, Vincent

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Syndrome de Bardet-Biedl : cils et obésité von Chennen, Kirsley, Scerbo, Maria Julia, Dollfus, Hélène, Poch, Olivier, Marion, Vincent

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Syndrome de Bardet-Biedl : cils et obésité: De la génétique aux approches intégratives von Chennen, Kirsley, Scerbo, Maria Julia, Dollfus, Hélène, Poch, Olivier, Marion, Vincent

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Do 5' regions of human protein-coding genes contain the blueprints for alternative splicing? von Weber, Thomas, Moulinier, Luc, Scalzitti, Nicolas, Thompson, Julie, Chennen, Kirsley, Poch, Olivier

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