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Items where Author is "Cisarova, Katarina"

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Number of items: 9.

2022

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.

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.

2021

Nishiguchi, Koji M. and Miya, Fuyuki and Mori, Yuka and Fujita, Kosuke and Akiyama, Masato and Kamatani, Takashi and Koyanagi, Yoshito and Sato, Kota and Takigawa, Toru and Ueno, Shinji and Tsugita, Misato and Kunikata, Hiroshi and Cisarova, Katarina and Nishino, Jo and Murakami, Akira and Abe, Toshiaki and Momozawa, Yukihide and Terasaki, Hiroko and Wada, Yuko and Sonoda, Koh-Hei and Rivolta, Carlo and Tsunoda, Tatsuhiko and Tsujikawa, Motokazu and Ikeda, Yasuhiro and Nakazawa, Toru. (2021) A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Communications Biology, 4 (1). p. 140.

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.

2020

Cisarova, Katarina and Folcher, Marc and El Zaoui, Ikram and Pescini-Gobert, Rosanna and Peter, Virginie G. and Royer-Bertrand, Beryl and Zografos, Leonidas and Schalenbourg, Ann and Nicolas, Michael and Rimoldi, Donata and Leyvraz, Serge and Riggi, Nicolò and Moulin, Alexandre P. and Rivolta, Carlo. (2020) Genomic and transcriptomic landscape of conjunctival melanoma. PLoS genetics, 16 (12). e1009201.

2019

Nikopoulos, 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.

2017

Quinodoz, 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.

2016

Royer-Bertrand, Beryl and Torsello, Matteo and Rimoldi, Donata and El Zaoui, Ikram and Cisarova, Katarina and Pescini-Gobert, Rosanna and Raynaud, Franck and Zografos, Leonidas and Schalenbourg, Ann and Speiser, Daniel and Nicolas, Michael and Vallat, Laureen and Klein, Robert and Leyvraz, Serge and Ciriello, Giovanni and Riggi, Nicolò and Moulin, Alexandre P. and Rivolta, Carlo. (2016) Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing. American Journal of Human Genetics, 99 (5). pp. 1190-1198.

Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776.

This list was generated on Fri Mar 29 10:17:46 2024 CET.