日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

CR1 variants contribute to FSGS susceptibility across multiple populations

CR1变异体在多个人群中均与FSGS易感性相关。

Skitchenko, Rostislav; Modrusan, Zora; Loboda, Alexander; Kopp, Jeffrey B; Winkler, Cheryl A; Sergushichev, Alexey; Gupta, Namrata; Stevens, Christine; Daly, Mark J; Shaw, Andrey; Artomov, Mykyta

Complex trait susceptibilities and population diversity in a sample of 4,145 Russians

俄罗斯4145名样本中复杂性状易感性和群体多样性

Usoltsev, Dmitrii; Kolosov, Nikita; Rotar, Oxana; Loboda, Alexander; Boyarinova, Maria; Moguchaya, Ekaterina; Kolesova, Ekaterina; Erina, Anastasia; Tolkunova, Kristina; Rezapova, Valeriia; Molotkov, Ivan; Melnik, Olesya; Freylikhman, Olga; Paskar, Nadezhda; Alieva, Asiiat; Baranova, Elena; Bazhenova, Elena; Beliaeva, Olga; Vasilyeva, Elena; Kibkalo, Sofia; Skitchenko, Rostislav; Babenko, Alina; Sergushichev, Alexey; Dushina, Alena; Lopina, Ekaterina; Basyrova, Irina; Libis, Roman; Duplyakov, Dmitrii; Cherepanova, Natalya; Donner, Kati; Laiho, Paivi; Kostareva, Anna; Konradi, Alexandra; Shlyakhto, Evgeny; Palotie, Aarno; Daly, Mark J; Artomov, Mykyta

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis

使用基因组测序和转录分析来表征俄罗斯原发性纤毛运动障碍患者的致病遗传变异

Anna Zlotina, Svetlana Barashkova, Sergey Zhuk, Rostislav Skitchenko, Dmitrii Usoltsev, Polina Sokolnikova, Mykyta Artomov, Svetlana Alekseenko, Tatiana Simanova, Maria Goloborodko, Olga Berleva, Anna Kostareva

Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome

案例报告:变异检测流程选择对分子诊断结果影响的案例研究

Skitchenko, Rostislav; Smirnov, Sergey; Krapivin, Mikhail; Smirnova, Anna; Artomov, Mykyta; Loboda, Alexander; Dinikina, Yulia

The Role of NOTCH Pathway Genes in the Inherited Susceptibility to Aortic Stenosis

NOTCH通路基因在主动脉瓣狭窄遗传易感性中的作用

Irtyuga, Olga; Skitchenko, Rostislav; Babakekhyan, Mary; Usoltsev, Dmitrii; Tarnovskaya, Svetlana; Malashicheva, Anna; Fomicheva, Yulya; Rotar, Oksana; Moiseeva, Olga; Shadrina, Ulyana; Artomov, Mykyta; Kostareva, Anna; Shlyakhto, Evgeny

Case report: Somatic mutations in microtubule dynamics-associated genes in patients with WNT-medulloblastoma tumors

病例报告:WNT髓母细胞瘤患者微管动力学相关基因的体细胞突变

Skitchenko, Rostislav; Dinikina, Yulia; Smirnov, Sergey; Krapivin, Mikhail; Smirnova, Anna; Morgacheva, Daria; Artomov, Mykyta

No More Tears: Mining Sequencing Data for Novel Bt Cry Toxins with CryProcessor

不再流泪:利用 CryProcessor 挖掘测序数据以发现新型 Bt Cry 毒素

Shikov, Anton E; Malovichko, Yury V; Skitchenko, Rostislav K; Nizhnikov, Anton A; Antonets, Kirill S

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

一例伴有三指拇指-多指并指综合征、先天性心脏病和视盘缺损的患者,其7q36.3区域存在300 kb微重复:病例报告

Zlotina, Anna; Melnik, Olesia; Fomicheva, Yulia; Skitchenko, Rostislav; Sergushichev, Alexey; Shagimardanova, Elena; Gusev, Oleg; Gazizova, Guzel; Loevets, Tatiana; Vershinina, Tatiana; Kozyrev, Ivan; Gordeev, Mikhail; Vasichkina, Elena; Pervunina, Tatiana; Kostareva, Anna

Estimation of amyloid aggregate sizes with semi-denaturing detergent agarose gel electrophoresis and its limitations

利用半变性去垢剂琼脂糖凝胶电泳法估算淀粉样蛋白聚集体的大小及其局限性

Drozdova, Polina B; Barbitoff, Yury A; Belousov, Mikhail V; Skitchenko, Rostislav K; Rogoza, Tatyana M; Leclercq, Jeremy Y; Kajava, Andrey V; Matveenko, Andrew G; Zhouravleva, Galina A; Bondarev, Stanislav A