Items where Author is "Quinodoz, Mathieu"
Number of items: 25. 2022Ansar, Muhammad and Javed, Samra and Baig, Hafiz Muhammad Azhar and Quinodoz, Mathieu and Ullah, Mukhtar and Han, Ji Hoon and Rahim, Muhammad Usama and Kausar, Humera and Calzetti, Giacomo and Rivolta, Carlo. (2022) A new nonsense mutation in; HMX1; in two siblings with oculoauricular syndrome. Ophthalmic Genetics, 43 (5). pp. 720-723. Quinodoz, Mathieu and Peter, Virginie G. and Cisarova, Katarina and Royer-Bertrand, Beryl and Stenson, Peter D. and Cooper, David N. and Unger, Sheila and Superti-Furga, Andrea and Rivolta, Carlo. (2022) Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. American Journal of Human Genetics (AJHG), 109 (3). pp. 457-470. Butler-Laporte, Guillaume and Povysil, Gundula and Kosmicki, Jack A. and Cirulli, Elizabeth T. and Drivas, Theodore and Furini, Simone and Saad, Chadi and Schmidt, Axel and Olszewski, Pawel and Korotko, Urszula and Quinodoz, Mathieu and Çelik, Elifnaz and Kundu, Kousik and Walter, Klaudia and Jung, Junghyun and Stockwell, Amy D. and Sloofman, Laura G. and Jordan, Daniel M. and Thompson, Ryan C. and Del Valle, Diane and Simons, Nicole and Cheng, Esther and Sebra, Robert and Schadt, Eric E. and Kim-Schulze, Seunghee and Gnjatic, Sacha and Merad, Miriam and Buxbaum, Joseph D. and Beckmann, Noam D. and Charney, Alexander W. and Przychodzen, Bartlomiej and Chang, Timothy and Pottinger, Tess D. and Shang, Ning and Brand, Fabian and Fava, Francesca and Mari, Francesca and Chwialkowska, Karolina and Niemira, Magdalena and Pula, Szymon and Baillie, J. Kenneth and Stuckey, Alex and Salas, Antonio and Bello, Xabier and Pardo-Seco, Jacobo and Gómez-Carballa, Alberto and Rivero-Calle, Irene and Martinón-Torres, Federico and Ganna, Andrea and Karczewski, Konrad J. and Veerapen, Kumar and Bourgey, Mathieu and Bourque, Guillaume and Eveleigh, Robert Jm and Forgetta, Vincenzo and Morrison, David and Langlais, David and Lathrop, Mark and Mooser, Vincent and Nakanishi, Tomoko and Frithiof, Robert and Hultström, Michael and Lipcsey, Miklos and Marincevic-Zuniga, Yanara and Nordlund, Jessica and Schiabor Barrett, Kelly M. and Lee, William and Bolze, Alexandre and White, Simon and Riffle, Stephen and Tanudjaja, Francisco and Sandoval, Efren and Neveux, Iva and Dabe, Shaun and Casadei, Nicolas and Motameny, Susanne and Alaamery, Manal and Massadeh, Salam and Aljawini, Nora and Almutairi, Mansour S. and Arabi, Yaseen M. and Alqahtani, Saleh A. and Al Harthi, Fawz S. and Almutairi, Amal and Alqubaishi, Fatima and Alotaibi, Sarah and Binowayn, Albandari and Alsolm, Ebtehal A. and El Bardisy, Hadeel and Fawzy, Mohammad and Cai, Fang and Soranzo, Nicole and Butterworth, Adam and DeCOI Host Genetics Group, and GEN-Covid Multicenter Study, and Mount Sinai Clinical Intelligence Center, and GEN-Covid consortium, and GenOmicc Consortium, and Regeneron Genetics Center, and Geschwind, Daniel H. and Arteaga, Stephanie and Stephens, Alexis and Butte, Manish J. and Boutros, Paul C. and Yamaguchi, Takafumi N. and Tao, Shu and Eng, Stefan and Sanders, Timothy and Tung, Paul J. and Broudy, Michael E. and Pan, Yu and Gonzalez, Alfredo and Chavan, Nikhil and Johnson, Ruth and Pasaniuc, Bogdan and Yaspan, Brian and Smieszek, Sandra and Rivolta, Carlo and Bibert, Stephanie and Bochud, Pierre-Yves and Dabrowski, Maciej and Zawadzki, Pawel and Sypniewski, Mateusz and Kaja, Elżbieta and Chariyavilaskul, Pajaree and Nilaratanakul, Voraphoj and Hirankarn, Nattiya and Shotelersuk, Vorasuk and Pongpanich, Monnat and Phokaew, Chureerat and Chetruengchai, Wanna and Tokunaga, Katsushi and Sugiyama, Masaya and Kawai, Yosuke and Hasegawa, Takanori and Naito, Tatsuhiko and Namkoong, Ho and Edahiro, Ryuya and Kimura, Akinori and Ogawa, Seishi and Kanai, Takanori and Fukunaga, Koichi and Okada, Yukinori and Imoto, Seiya and Miyano, Satoru and Mangul, Serghei and Abedalthagafi, Malak S. and Zeberg, Hugo and Grzymski, Joseph J. and Washington, Nicole L. and Ossowski, Stephan and Ludwig, Kerstin U. and Schulte, Eva C. and Riess, Olaf and Moniuszko, Marcin and Kwasniewski, Miroslaw and Mbarek, Hamdi and Ismail, Said I. and Verma, Anurag and Goldstein, David B. and Kiryluk, Krzysztof and Renieri, Alessandra and Ferreira, Manuel A. R. and Richards, J. Brent. (2022) Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genetics, 18 (11). e1010367. Nardou, Katya and Nicolas, Michael and Kuttler, Fabien and Cisarova, Katarina and Celik, Elifnaz and Quinodoz, Mathieu and Riggi, Nicolo and Michielin, Olivier and Rivolta, Carlo and Turcatti, Gerardo and Moulin, Alexandre Pierre. (2022) Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening. Cancers, 14 (6). p. 1575. Han, Ji Hoon and Ryan, Gavin and Guy, Alyson and Liu, Lu and Quinodoz, Mathieu and Helbling, Ingrid and Lai-Cheong, Joey E. and Genomics England Research Consortium, and Barwell, Julian and Folcher, Marc and McGrath, John A. and Moss, Celia and Rivolta, Carlo. (2022) Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Human Molecular Genetics, 31 (12). pp. 1970-1978. 2021Lebon, Sébastien and Quinodoz, Mathieu and Peter, Virginie G. and Gengler, Carole and Blanchard, Gaëlle and Cina, Viviane and Campos-Xavier, Belinda and Rivolta, Carlo and Superti-Furga, Andrea. (2021) Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants. Genes, 12 (9). p. 1397. Quinodoz, Mathieu and Peter, Virginie G. and Bedoni, Nicola and Royer Bertrand, Béryl and Cisarova, Katarina and Salmaninejad, Arash and Sepahi, Neda and Rodrigues, Raquel and Piran, Mehran and Mojarrad, Majid and Pasdar, Alireza and Ghanbari Asad, Ali and Sousa, Ana Berta and Coutinho Santos, Luisa and Superti-Furga, Andrea and Rivolta, Carlo. (2021) AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nature Communications, 12 (1). p. 518. Gonçalves, André Brás and Hasselbalch, Sarah Kirstine and Joensen, Beinta Biskopstø and Patzke, Sebastian and Martens, Pernille and Ohlsen, Signe Krogh and Quinodoz, Mathieu and Nikopoulos, Konstantinos and Suleiman, Reem and Damsø Jeppesen, Magnus Per and Weiss, Catja and Christensen, Søren Tvorup and Rivolta, Carlo and Andersen, Jens S. and Farinelli, Pietro and Pedersen, Lotte Bang. (2021) CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. eLife, 10. e63731. Peter, Virginie G. and Quinodoz, Mathieu and Sadio, Silvia and Held, Sebastian and Rodrigues, Márcia and Soares, Marta and Sousa, Ana Berta and Santos, Luisa Coutinho and Damme, Markus and Rivolta, Carlo. (2021) New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Human Mutation, 42 (3). pp. 261-271. Allou, Lila and Balzano, Sara and Magg, Andreas and Quinodoz, Mathieu and Royer-Bertrand, Beryl and Schöpflin, Robert and Chan, Wing-Lee and Speck-Martins, Carlos E. and Carvalho, Daniel Rocha and Farage, Luciano and Lourenço, Charles Marques and Albuquerque, Regina and Rajagopal, Srilakshmi and Nampoothiri, Sheela and Campos-Xavier, Belinda and Chiesa, Carole and Niel-Bütschi, Florence and Wittler, Lars and Timmermann, Bernd and Spielmann, Malte and Robson, Michael I. and Ringel, Alessa and Heinrich, Verena and Cova, Giulia and Andrey, Guillaume and Prada-Medina, Cesar A. and Pescini-Gobert, Rosanna and Unger, Sheila and Bonafé, Luisa and Grote, Phillip and Rivolta, Carlo and Mundlos, Stefan and Superti-Furga, Andrea. (2021) Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature, 592. pp. 93-98. Bibert, Stéphanie and Guex, Nicolas and Lourenco, Joao and Brahier, Thomas and Papadimitriou-Olivgeris, Matthaios and Damonti, Lauro and Manuel, Oriol and Liechti, Robin and Götz, Lou and Tschopp, Jonathan and Quinodoz, Mathieu and Vollenweider, Peter and Pagani, Jean-Luc and Oddo, Mauro and Hügli, Olivier and Lamoth, Frédéric and Erard, Véronique and Voide, Cathy and Delorenzi, Mauro and Rufer, Nathalie and Candotti, Fabio and Rivolta, Carlo and Boillat-Blanco, Noémie and Bochud, Pierre-Yves and RegCovid Study Group, . (2021) Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients. Frontiers in Immunology, 12. p. 666163. Rehman, Atta Ur and Sepahi, Neda and Bedoni, Nicola and Ravesh, Zeinab and Salmaninejad, Arash and Cancellieri, Francesca and Peter, Virginie G. and Quinodoz, Mathieu and Mojarrad, Majid and Pasdar, Alireza and Asad, Ali Ghanbari and Ghalamkari, Saman and Piran, Mehran and Piran, Mehrdad and Superti-Furga, Andrea and Rivolta, Carlo. (2021) Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. Scientific Reports, 11 (1). p. 19332. 2020Bedoni, Nicola and Quinodoz, Mathieu and Pinelli, Michele and Cappuccio, Gerarda and Torella, Annalaura and Nigro, Vincenzo and Testa, Francesco and Simonelli, Francesca and Telethon Undiagnosed Disease Programm, and Corton, Marta and Lualdi, Susanna and Lanza, Federica and Morana, Giovanni and Ayuso, Carmen and Di Rocco, Maja and Filocamo, Mirella and Banfi, Sandro and Brunetti-Pierri, Nicola and Superti-Furga, Andrea and Rivolta, Carlo. (2020) An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Human molecular genetics, 29 (13). pp. 2250-2260. Bastos, Filipa and Quinodoz, Mathieu and Addor, Marie-Claude and Royer-Bertrand, Beryl and Fodstad, Heidi and Rivolta, Carlo and Poloni, Claudia and Superti-Furga, Andrea and Roulet-Perez, Eliane and Lebon, Sebastien. (2020) Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. BMC neurology, 20 (1). p. 17. Panagiotou, Evangelia S. and Papathomas, Thomas and Nikopoulos, Konstantinos and Koukoula, Stavrenia and Quinodoz, Mathieu and Rehman, Atta Ur and Giannopoulos, Theodoros and Rivolta, Carlo and Konstas, Anastasios G.. (2020) Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome. Ophthalmology and Therapy, 9 (3). pp. 677-684. Salmaninejad, Arash and Bedoni, Nicola and Ravesh, Zeinab and Quinodoz, Mathieu and Shoeibi, Nasser and Mojarrad, Majid and Pasdar, Alireza and Rivolta, Carlo. (2020) Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies. Scientific reports, 10 (1). p. 19413. Rehman, Atta Ur and Peter, Virginie G. and Quinodoz, Mathieu and Dawood, Muhammad and Rivolta, Carlo. (2020) Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. Clinical Dysmorphology, 29 (2). pp. 86-89. 2019Nikopoulos, Konstantinos and Cisarova, Katarina and Quinodoz, Mathieu and Koskiniemi-Kuendig, Hanna and Miyake, Noriko and Farinelli, Pietro and Rehman, Atta Ur and Khan, Muhammad Imran and Prunotto, Andrea and Akiyama, Masato and Kamatani, Yoichiro and Terao, Chikashi and Miya, Fuyuki and Ikeda, Yasuhiro and Ueno, Shinji and Fuse, Nobuo and Murakami, Akira and Wada, Yuko and Terasaki, Hiroko and Sonoda, Koh-Hei and Ishibashi, Tatsuro and Kubo, Michiaki and Cremers, Frans P. M. and Kutalik, Zoltán and Matsumoto, Naomichi and Nishiguchi, Koji M. and Nakazawa, Toru and Rivolta, Carlo. (2019) A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications, 10 (1). p. 2884. Peter, Virginie G. and Nikopoulos, Konstantinos and Quinodoz, Mathieu and Granse, Lotta and Farinelli, Pietro and Superti-Furga, Andrea and Andréasson, Sten and Rivolta, Carlo. (2019) A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic Genetics, 40 (2). pp. 177-181. Rehman, Atta Ur and Peter, Virginie G. and Quinodoz, Mathieu and Rashid, Abdur and Khan, Syed Akhtar and Superti-Furga, Andrea and Rivolta, Carlo. (2019) Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4. Genes, 11 (1). p. 13. Bibert, Stéphanie and Piret, Jocelyne and Quinodoz, Mathieu and Collinet, Emilie and Zoete, Vincent and Michielin, Olivier and Menasria, Rafik and Meylan, Pascal and Bihl, Titus and Erard, Véronique and Fellmann, Florence and Rivolta, Carlo and Boivin, Guy and Bochud, Pierre-Yves. (2019) Herpes simplex encephalitis in adult patients with MASP-2 deficiency. PLoS Pathogens, 15 (12). e1008168. Moye, Abigail R. and Bedoni, Nicola and Cunningham, Jessica G. and Sanzhaeva, Urikhan and Tucker, Eric S. and Mathers, Peter and Peter, Virginie G. and Quinodoz, Mathieu and Paris, Liliana P. and Coutinho-Santos, Luísa and Camacho, Pedro and Purcell, Madeleine G. and Winkelmann, Abbie C. and Foster, James A. and Pugacheva, Elena N. and Rivolta, Carlo and Ramamurthy, Visvanathan. (2019) Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS Genetics, 15 (8). e1008315. Peter, Virginie G. and Quinodoz, Mathieu and Pinto-Basto, Jorge and Sousa, Sergio B. and Di Gioia, Silvio Alessandro and Soares, Gabriela and Ferraz Leal, Gabriela and Silva, Eduardo D. and Pescini Gobert, Rosanna and Miyake, Noriko and Matsumoto, Naomichi and Engle, Elizabeth C. and Unger, Sheila and Shapiro, Frederic and Superti-Furga, Andrea and Rivolta, Carlo and Campos-Xavier, Belinda. (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. Genetics in medicine, 21 (12). pp. 2734-2743. 2018Fregni, Giulia and Quinodoz, Mathieu and Möller, Emely and Vuille, Joanna and Galland, Sabine and Fusco, Carlo and Martin, Patricia and Letovanec, Igor and Provero, Paolo and Rivolta, Carlo and Riggi, Nicolo and Stamenkovic, Ivan. (2018) Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis. EBioMedicine, 29. pp. 128-145. 2017Quinodoz, Mathieu and Royer-Bertrand, Beryl and Cisarova, Katarina and Di Gioia, Silvio Alessandro and Superti-Furga, Andrea and Rivolta, Carlo. (2017) DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. American Journal of Human Genetics, 101 (4). pp. 623-629. |
