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

Ancient DNA analysis of elite nomadic warrior from Chinge-Tey I funerary commemorative complex in the "Valley of the Kings", Tuva.

图瓦“帝王谷”Chinge-Tey I 陵墓纪念建筑群中精英游牧战士的古代 DNA 分析

Nedoluzhko Artem, Vergasova Ekaterina, Sharko Fedor, Agapitova Natalia, Kharitonov Dmitry, Sukhanova Xenia, Pushkina Olga, Pankova Svetlana, Slobodova Natalia, Boulygina Eugenia, Plotnikov Nikolay, Kim Anna, Uchaneva Evgeniia, Pogodina Nadezhda, Ilinskaya Anna, Rakitko Alexander, Chugunov Konstantin, Ilinsky Valery

Deep learning captures the effect of epistasis in multifactorial diseases

深度学习能够捕捉上位性在多因素疾病中的作用

Perelygin, Vladislav; Kamelin, Alexey; Syzrantsev, Nikita; Shaheen, Layal; Kim, Anna; Plotnikov, Nikolay; Ilinskaya, Anna; Ilinsky, Valery; Rakitko, Alexander; Poptsova, Maria

GWAS and polygenic risk score of severe COVID-19 in Eastern Europe

东欧重症新冠肺炎的全基因组关联研究和多基因风险评分

Kovalenko, Elena; Shaheen, Layal; Vergasova, Ekaterina; Kamelin, Alexey; Rubinova, Valerya; Kharitonov, Dmitry; Kim, Anna; Plotnikov, Nikolay; Elmuratov, Artem; Borovkova, Natalia; Storozheva, Maya; Solonin, Sergey; Gilyazova, Irina; Mironov, Petr; Khusnutdinova, Elza; Petrikov, Sergey; Ilinskaya, Anna; Ilinsky, Valery; Rakitko, Alexander

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene

一例由TMEM67基因中新型复合杂合变异引起的Joubert综合征病例

Kozina, Anastasiya Aleksandrovna; Kanaeva, Guria Kurbanovna; Baryshnikova, Natalia Vladimirovna; Ilinskaya, Anna Yurievna; Kim, Anna Alexandrovna; Erofeeva, Anastasia Vladimirovna; Pogodina, Nadezhda Andreevna; Gadzhiyeva, Jamilya Payzutdinova; Surkova, Ekaterina Ivanovna; Ilinsky, Valery Vladimirovich

GWAS of depression in 4,520 individuals from the Russian population highlights the role of MAGI2 (S-SCAM) in the gut-brain axis

一项针对4520名俄罗斯人群抑郁症患者的全基因组关联研究(GWAS)凸显了MAGI2(S-SCAM)在肠脑轴中的作用。

Pinakhina, Daria; Yermakovich, Danat; Vergasova, Ekaterina; Kasyanov, Evgeny; Rukavishnikov, Grigory; Rezapova, Valeriia; Kolosov, Nikita; Sergushichev, Alexey; Popov, Iaroslav; Kovalenko, Elena; Ilinskaya, Anna; Kim, Anna; Plotnikov, Nikolay; Ilinsky, Valery; Neznanov, Nikholay; Mazo, Galina; Kibitov, Alexander; Rakitko, Alexander; Artomov, Mykyta

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report

俄罗斯某家族中MPZ基因新突变导致早发性但进展缓慢的夏科-马里-图斯病:病例报告

Kozina, Anastasiya Aleksandrovna; Baryshnikova, Natalia Vladimirovna; Ilinskaya, Anna Yurievna; Kim, Anna Alexandrovna; Plotnikov, Nikolay Alekseevich; Pogodina, Nadezhda Andreevna; Surkova, Ekaterina Ivanovna; Shatalov, Peter Alekseevich; Ilinsky, Valery Vladimirovich

Non-linear interaction between physical activity and polygenic risk score of body mass index in Danish and Russian populations

丹麦和俄罗斯人群中身体活动与体重指数多基因风险评分之间的非线性相互作用

Borisevich, Dmitrii; Schnurr, Theresia M; Engelbrechtsen, Line; Rakitko, Alexander; Ängquist, Lars; Ilinsky, Valery; Aadahl, Mette; Grarup, Niels; Pedersen, Oluf; Sørensen, Thorkild I A; Hansen, Torben

ClassifyCNV: a tool for clinical annotation of copy-number variants

ClassifyCNV:用于拷贝数变异临床注释的工具

Gurbich, Tatiana A; Ilinsky, Valery Vladimirovich

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

俄罗斯人群中的神经元蜡样脂褐质沉积症:两种新的突变及杂合子携带者的患病率

Kozina, Anastasiya A; Okuneva, Elena G; Baryshnikova, Natalia V; Kondakova, Olga B; Nikolaeva, Ekaterina A; Fedoniuk, Inessa D; Mikhailova, Svetlana V; Krasnenko, Anna Y; Stetsenko, Ivan F; Plotnikov, Nikolay A; Klimchuk, Olesia I; Popov, Yaroslav V; Surkova, Ekaterina I; Shatalov, Peter A; Rakitko, Alexander S; Ilinsky, Valery V

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

俄罗斯女性癫痫伴智力障碍患者中发现两例新的PCDH19基因突变:病例报告

Kozina, Anastasiya Aleksandrovna; Okuneva, Elena Grigorievna; Baryshnikova, Natalia Vladimirovna; Fedonyuk, Inessa Dmitrievna; Kholin, Alexey Aleksandrovich; Il'ina, Elena Stepanovna; Krasnenko, Anna Yurievna; Stetsenko, Ivan Fedorovich; Plotnikov, Nikolay Alekseevich; Klimchuk, Olesia Igorevna; Surkova, Ekaterina Ivanovna; Ilinsky, Valery Vladimirovich