Søgeresultater - Quinodoz, Mathieu

Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters af Quinodoz, Mathieu, Gobet, Cédric, Naef, Felix, Gustafson, Kyle B

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Likelihood-Free Inference in High-Dimensional Models af Kousathanas, Athanasios, Leuenberger, Christoph, Helfer, Jonas, Quinodoz, Mathieu, Foll, Matthieu, Wegmann, Daniel

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DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders af Quinodoz, Mathieu, Royer-Bertrand, Beryl, Cisarova, Katarina, Di Gioia, Silvio Alessandro, Superti-Furga, Andrea, Rivolta, Carlo

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Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies af Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo

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Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 af Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo

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Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome af Panagiotou, Evangelia S., Papathomas, Thomas, Nikopoulos, Konstantinos, Koukoula, Stavrenia, Quinodoz, Mathieu, Rehman, Atta Ur, Giannopoulos, Theodoros, Rivolta, Carlo, Konstas, Anastasios G.

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Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants af Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G., Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea

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Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening af Nardou, Katya, Nicolas, Michael, Kuttler, Fabien, Cisarova, Katarina, Celik, Elifnaz, Quinodoz, Mathieu, Riggi, Nicolo, Michielin, Olivier, Rivolta, Carlo, Turcatti, Gerardo, Moulin, Alexandre Pierre

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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity af Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo

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Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis af Fregni, Giulia, Quinodoz, Mathieu, Möller, Emely, Vuille, Joanna, Galland, Sabine, Fusco, Carlo, Martin, Patricia, Letovanec, Igor, Provero, Paolo, Rivolta, Carlo, Riggi, Nicolo, Stamenkovic, Ivan

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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature af Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien

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Herpes simplex encephalitis in adult patients with MASP-2 deficiency af Bibert, Stéphanie, Piret, Jocelyne, Quinodoz, Mathieu, Collinet, Emilie, Zoete, Vincent, Michielin, Olivier, Menasria, Rafik, Meylan, Pascal, Bihl, Titus, Erard, Véronique, Fellmann, Florence, Rivolta, Carlo, Boivin, Guy, Bochud, Pierre-Yves

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Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder af Han, Ji Hoon, Ryan, Gavin, Guy, Alyson, Liu, Lu, Quinodoz, Mathieu, Helbling, Ingrid, Lai-Cheong, Joey E, Barwell, Julian, Folcher, Marc, McGrath, John A, Moss, Celia, Rivolta, Carlo

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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies af Rehman, Atta Ur, Sepahi, Neda, Bedoni, Nicola, Ravesh, Zeinab, Salmaninejad, Arash, Cancellieri, Francesca, Peter, Virginie G., Quinodoz, Mathieu, Mojarrad, Majid, Pasdar, Alireza, Asad, Ali Ghanbari, Ghalamkari, Saman, Piran, Mehran, Piran, Mehrdad, Superti-Furga, Andrea, Rivolta, Carlo

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AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data af Quinodoz, Mathieu, Peter, Virginie G., Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Sousa, Ana Berta, Coutinho Santos, Luisa, Superti-Furga, Andrea, Rivolta, Carlo

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CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels af Gonçalves, André Brás, Hasselbalch, Sarah Kirstine, Joensen, Beinta Biskopstø, Patzke, Sebastian, Martens, Pernille, Ohlsen, Signe Krogh, Quinodoz, Mathieu, Nikopoulos, Konstantinos, Suleiman, Reem, Damsø Jeppesen, Magnus Per, Weiss, Catja, Christensen, Søren Tvorup, Rivolta, Carlo, Andersen, Jens S, Farinelli, Pietro, Pedersen, Lotte Bang

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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice af Moye, Abigail R., Bedoni, Nicola, Cunningham, Jessica G., Sanzhaeva, Urikhan, Tucker, Eric S., Mathers, Peter, Peter, Virginie G., Quinodoz, Mathieu, Paris, Liliana P., Coutinho-Santos, Luísa, Camacho, Pedro, Purcell, Madeleine G., Winkelmann, Abbie C., Foster, James A., Pugacheva, Elena N., Rivolta, Carlo, Ramamurthy, Visvanathan

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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene af Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda

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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes af Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne

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Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients af Bibert, Stéphanie, Guex, Nicolas, Lourenco, Joao, Brahier, Thomas, Papadimitriou-Olivgeris, Matthaios, Damonti, Lauro, Manuel, Oriol, Liechti, Robin, Götz, Lou, Tschopp, Jonathan, Quinodoz, Mathieu, Vollenweider, Peter, Pagani, Jean-Luc, Oddo, Mauro, Hügli, Olivier, Lamoth, Frédéric, Erard, Véronique, Voide, Cathy, Delorenzi, Mauro, Rufer, Nathalie, Candotti, Fabio, Rivolta, Carlo, Boillat-Blanco, Noémie, Bochud, Pierre-Yves

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