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

The New Coronavirus COVID-19 Infection

新型冠状病毒 COVID-19 感染

Bevova, M R; Netesov, S V; Aulchenko, Yu S

Direct chromosome-length haplotyping by single-cell sequencing

通过单细胞测序直接进行染色体长度单倍型分析

Porubský, David; Sanders, Ashley D; van Wietmarschen, Niek; Falconer, Ester; Hills, Mark; Spierings, Diana C J; Bevova, Marianna R; Guryev, Victor; Lansdorp, Peter M

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity

DARS基因突变会导致髓鞘形成不足,累及脑干和脊髓,并引起腿部痉挛。

Taft, Ryan J; Vanderver, Adeline; Leventer, Richard J; Damiani, Stephen A; Simons, Cas; Grimmond, Sean M; Miller, David; Schmidt, Johanna; Lockhart, Paul J; Pope, Kate; Ru, Kelin; Crawford, Joanna; Rosser, Tena; de Coo, Irenaeus F M; Juneja, Monica; Verma, Ishwar C; Prabhakar, Prab; Blaser, Susan; Raiman, Julian; Pouwels, Petra J W; Bevova, Marianna R; Abbink, Truus E M; van der Knaap, Marjo S; Wolf, Nicole I

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

编码线粒体柠檬酸载体的 SLC25A1 缺陷导致 D-2- 和 L-2-羟基戊二酸尿症

Benjamin Nota, Eduard A Struys, Ana Pop, Erwin E Jansen, Matilde R Fernandez Ojeda, Warsha A Kanhai, Martijn Kranendijk, Silvy J M van Dooren, Marianna R Bevova, Erik A Sistermans, Aggie W M Nieuwint, Magalie Barth, Tawfeg Ben-Omran, Georg F Hoffmann, Pascale de Lonlay, Marie T McDonald, Alf Meberg,

Resequencing three candidate genes for major depressive disorder in a Dutch cohort

对荷兰人群中三个重度抑郁症候选基因进行重测序

Verbeek, Eva C; Bevova, Marianna R; Bochdanovits, Zoltán; Rizzu, Patrizia; Bakker, Ingrid M C; Uithuisje, Tiny; De Geus, Eco J; Smit, Johannes H; Penninx, Brenda W; Boomsma, Dorret I; Hoogendijk, Witte J G; Heutink, Peter

A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder

一项针对重度抑郁症全基因组关联研究(GWAS)中得分最高的7个基因的精细定位研究

Verbeek, Eva C; Bakker, Ingrid M C; Bevova, Marianna R; Bochdanovits, Zoltán; Rizzu, Patrizia; Sondervan, David; Willemsen, Gonneke; de Geus, Eco J; Smit, Johannes H; Penninx, Brenda W; Boomsma, Dorret I; Hoogendijk, Witte J G; Heutink, Peter

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

荷兰、芬兰和匈牙利人群中与乳糜泻易感性相关的 6q21-22 区域的多个独立变异

Einarsdottir, Elisabet; Bevova, Marianna R; Zhernakova, Alexandra; Monsuur, Alienke; Koskinen, Lotta L E; van't Slot, Ruben; Mulder, Chris; Mearin, M Luisa; Korponay-Szabo, Ilma R; Kaukinen, Katri; Kurppa, Kalle; Kere, Juha; Mäki, Markku; Wijmenga, Cisca; Saavalainen, Päivi

Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP

克罗恩病和溃疡性结肠炎先天免疫的基因分析发现了两个易感基因位点,分别含有CARD9和IL18RAP。

Zhernakova, Alexandra; Festen, Eleanora M; Franke, Lude; Trynka, Gosia; van Diemen, Cleo C; Monsuur, Alienke J; Bevova, Marianna; Nijmeijer, Rian M; van 't Slot, Ruben; Heijmans, Roel; Boezen, H Marike; van Heel, David A; van Bodegraven, Adriaan A; Stokkers, Pieter C F; Wijmenga, Cisca; Crusius, J Bart A; Weersma, Rinse K

Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases

染色体 4q27 区域与类风湿性关节炎的新关联以及 1 型糖尿病的确诊表明,该区域是自身免疫性疾病的普遍风险位点。

Zhernakova, Alexandra; Alizadeh, Behrooz Z; Bevova, Marianna; van Leeuwen, Miek A; Coenen, Marieke J H; Franke, Barbara; Franke, Lude; Posthumus, Marcel D; van Heel, David A; van der Steege, Gerrit; Radstake, Timothy R D J; Barrera, Pilar; Roep, Bart O; Koeleman, Bobby P C; Wijmenga, Cisca