Ngā hua rapu - Quinodoz, Mathieu

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Herpes simplex encephalitis in adult patients with MASP-2 deficiency mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa