Cisarova相关文献与解析，生知库 | 链接生命科学的每一步

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

葡萄牙患者遗传性视网膜营养不良的首个基因图谱分析表明，复发性纯合突变是其发病机制的常见原因。

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

发表日期：2023

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

对人类基因组中错义变异的分析揭示了广泛的基因特异性聚集，并提高了致病性的预测能力。

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2022.01.006

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

发表日期：2022

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

使用基于图像的高内涵药物筛选识别结膜黑色素瘤的新弱点

期刊:Cancers

影响因子:

doi:10.3390/cancers14061575

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

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

AutoMap 是一款利用新一代测序数据的高性能纯合性作图工具。

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-020-20584-4

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

发表日期：2021

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A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma

活体单细胞报告基因检测将肿瘤内异质性与尤文氏肉瘤的转移倾向联系起来

期刊:Science Advances

影响因子:11.7

doi:10.1126/sciadv.abf9394

Tugba Keskin, Beatrice Rucci, Sandrine Cornaz-Buros, Patricia Martin, Carlo Fusco, Liliane Broye, Katarina Cisarova, Elizabeth M Perez, Igor Letovanec, Stefano La Rosa, Stephane Cherix, Manuel Diezi, Raffaele Renella, Paolo Provero, Mario L Suvà, Ivan Stamenkovic, Nicolò Riggi

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

在患有智力障碍、发育倒退和社会认知缺陷但无癫痫发作的患者中发现了 CACNA1E 的新生变异

期刊:Molecular Autism

影响因子:5.5

doi:10.1186/s13229-021-00473-3

Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A; Bassetti, Jennifer A; Moldovan, Oana; O'Heir, Emily; Burrage, Lindsay C; Allen, Jake; Emrick, Lisa T; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Chabane, Nadia; Zackai, Elaine H; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J; Umair, Muhammad; Li, Dong; Donald, Kirsten A; Superti-Furga, Andrea

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

全基因组关联研究发现，EYS基因中的一个功能减弱变异与视网膜色素变性有关。

期刊:Communications Biology

影响因子:5.2

doi:10.1038/s42003-021-01662-9

Koji M Nishiguchi #,Fuyuki Miya #,Yuka Mori,Kosuke Fujita,Masato Akiyama,Takashi Kamatani,Yoshito Koyanagi,Kota Sato,Toru Takigawa,Shinji Ueno,Misato Tsugita,Hiroshi Kunikata,Katarina Cisarova,Jo Nishino,Akira Murakami,Toshiaki Abe,Yukihide Momozawa,Hiroko Terasaki,Yuko Wada,Koh-Hei Sonoda,Carlo Rivolta,Tatsuhiko Tsunoda,Motokazu Tsujikawa,Yasuhiro Ikeda,Toru Nakazawa

EYS

发表日期：2021

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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

利用外显子组测序数据进行CNV检测在罕见遗传疾病常规诊断中的应用：机遇与局限性

期刊:Genes

影响因子:2.8

doi:10.3390/genes12091427

Royer-Bertrand, Beryl; Cisarova, Katarina; Niel-Butschi, Florence; Mittaz-Crettol, Laureane; Fodstad, Heidi; Superti-Furga, Andrea

发表日期：2021

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Genomic and transcriptomic landscape of conjunctival melanoma

结膜黑色素瘤的基因组和转录组图

期刊:PLoS Genetics

影响因子:

doi:10.1371/journal.pgen.1009201

Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini-Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta

Gluten-Free Diet Induces Small-Scale Changes Across Multiple T-Cell Subsets in NOD Mice

无麸质饮食可诱导NOD小鼠多种T细胞亚群发生微小变化

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

葡萄牙患者遗传性视网膜营养不良的首个基因图谱分析表明，复发性纯合突变是其发病机制的常见原因。

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

对人类基因组中错义变异的分析揭示了广泛的基因特异性聚集，并提高了致病性的预测能力。

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

使用基于图像的高内涵药物筛选识别结膜黑色素瘤的新弱点

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

AutoMap 是一款利用新一代测序数据的高性能纯合性作图工具。

A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma

活体单细胞报告基因检测将肿瘤内异质性与尤文氏肉瘤的转移倾向联系起来

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

在患有智力障碍、发育倒退和社会认知缺陷但无癫痫发作的患者中发现了 CACNA1E 的新生变异

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

全基因组关联研究发现，EYS基因中的一个功能减弱变异与视网膜色素变性有关。

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

利用外显子组测序数据进行CNV检测在罕见遗传疾病常规诊断中的应用：机遇与局限性

Genomic and transcriptomic landscape of conjunctival melanoma

结膜黑色素瘤的基因组和转录组图