Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters

por Quinodoz, Mathieu, Gobet, Cédric, Naef, Felix, Gustafson, Kyle B
Publicado 2014

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

por Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo
Publicado 2020

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

por Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo
Publicado 2019

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome

por Panagiotou, Evangelia S., Papathomas, Thomas, Nikopoulos, Konstantinos, Koukoula, Stavrenia, Quinodoz, Mathieu, Rehman, Atta Ur, Giannopoulos, Theodoros, Rivolta, Carlo, Konstas, Anastasios G.
Publicado 2020

Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq

por Hahaut, Vincent, Pavlinic, Dinko, Carbone, Walter, Schuierer, Sven, Balmer, Pierre, Quinodoz, Mathieu, Renner, Magdalena, Roma, Guglielmo, Cowan, Cameron S., Picelli, Simone
Publicado 2022

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

por Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G., Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea
Publicado 2021

Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening

por Nardou, Katya, Nicolas, Michael, Kuttler, Fabien, Cisarova, Katarina, Celik, Elifnaz, Quinodoz, Mathieu, Riggi, Nicolo, Michielin, Olivier, Rivolta, Carlo, Turcatti, Gerardo, Moulin, Alexandre Pierre
Publicado 2022

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

por Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo
Publicado 2022

Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis

por Fregni, Giulia, Quinodoz, Mathieu, Möller, Emely, Vuille, Joanna, Galland, Sabine, Fusco, Carlo, Martin, Patricia, Letovanec, Igor, Provero, Paolo, Rivolta, Carlo, Riggi, Nicolo, Stamenkovic, Ivan
Publicado 2018

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

por Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien
Publicado 2020

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

por 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
Publicado 2019

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

por 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
Publicado 2022

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

por Peter, Virginie G, Kaminska, Karolina, Santos, Cristina, Quinodoz, Mathieu, Cancellieri, Francesca, Cisarova, Katarina, Pescini Gobert, Rosanna, Rodrigues, Raquel, Custódio, Sónia, Paris, Liliana P, Sousa, Ana Berta, Coutinho Santos, Luisa, Rivolta, Carlo
Publicado 2023

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

por 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
Publicado 2021

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

por 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
Publicado 2021

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

por 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
Publicado 2021

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

por 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
Publicado 2019

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

por 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
Publicado 2019

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

por 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
Publicado 2018

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

por 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
Publicado 2021