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

Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes

细胞状态依赖性等位基因效应和人脑表型的背景孟德尔随机化分析

Alexander Haglund # ,Verena Zuber # ,Maya Abouzeid ,Yifei Yang ,Jeong Hun Ko ,Liv Wiemann ,Maria Otero-Jimenez ,Louwai Muhammed ,Rahel Feleke ,Alexi Nott ,James D Mills ,Liisi Laaniste ,Djordje O Gveric ,Daniel Clode ,Ann C Babtie ,Susanna Pagni ,Ravishankara Bellampalli ,Alyma Somani ,Karina McDade ,Jasper J Anink ,Lucia Mesarosova ,Nurun Fancy ,Nanet Willumsen ,Amy Smith ,Johanna Jackson ,Javier Alegre-Abarrategui ,Eleonora Aronica ,Paul M Matthews ,Maria Thom ,Sanjay M Sisodiya ,Prashant K Srivastava ,Dheeraj Malhotra ,Julien Bryois ,Leonardo Bottolo ,Michael R Johnson

Genetic coupling of enhancer activity and connectivity in gene expression control.

基因表达控制中增强子活性和连接性的遗传耦合

Ray-Jones Helen, Sung Chak Kei, Chan Lai Ting, Haglund Alexander, Artemov Pavel, Della Rosa Monica, Ruje Luminita, Burden Frances, Kreuzhuber Roman, Litovskikh Anna, Weyenbergh Eline, Brusselaers Zoï, Tan Vanessa Xue Hui, Frontini Mattia, Wallace Chris, Malysheva Valeriya, Bottolo Leonardo, Vigorito Elena, Spivakov Mikhail

Bayesian causal graphical model for joint Mendelian randomization analysis of multiple exposures and outcomes

用于多重暴露和结局联合孟德尔随机化分析的贝叶斯因果图模型

Zuber, Verena; Cronjé, Toinét; Cai, Na; Gill, Dipender; Bottolo, Leonardo

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

心肌病相关基因罕见变异的穿透率:采用横断面方法估计次要发现的穿透率

McGurk, Kathryn A; Zhang, Xiaolei; Theotokis, Pantazis; Thomson, Kate; Harper, Andrew; Buchan, Rachel J; Mazaika, Erica; Ormondroyd, Elizabeth; Wright, William T; Macaya, Daniela; Pua, Chee Jian; Funke, Birgit; MacArthur, Daniel G; Prasad, Sanjay K; Cook, Stuart A; Allouba, Mona; Aguib, Yasmine; Yacoub, Magdi H; O'Regan, Declan P; Barton, Paul J R; Watkins, Hugh; Bottolo, Leonardo; Ware, James S

Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes

多重响应孟德尔随机化:识别多种疾病及多种相关疾病结局的共同和独特暴露因素

Zuber, Verena; Lewin, Alex; Levin, Michael G; Haglund, Alexander; Ben-Aicha, Soumaya; Emanueli, Costanza; Damrauer, Scott; Burgess, Stephen; Gill, Dipender; Bottolo, Leonardo

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

36例多位点印记紊乱(MLID)患者的分子特征分析:一种综合方法

Bilo, Larissa; Ochoa, Eguzkine; Lee, Sunwoo; Dey, Daniela; Kurth, Ingo; Kraft, Florian; Rodger, Fay; Docquier, France; Toribio, Ana; Bottolo, Leonardo; Binder, Gerhard; Fekete, György; Elbracht, Miriam; Maher, Eamonn R; Begemann, Matthias; Eggermann, Thomas

Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease

优先考虑主要脂蛋白及其亚组分作为外周动脉疾病风险因素的作用

Levin, Michael G; Zuber, Verena; Walker, Venexia M; Klarin, Derek; Lynch, Julie; Malik, Rainer; Aday, Aaron W; Bottolo, Leonardo; Pradhan, Aruna D; Dichgans, Martin; Chang, Kyong-Mi; Rader, Daniel J; Tsao, Philip S; Voight, Benjamin F; Gill, Dipender; Burgess, Stephen; Damrauer, Scott M

A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion

一个转位基因位点导致肥厚型心脏出现核糖体病,以蛋白质长度依赖的方式影响mRNA翻译。

Franziska Witte # ,Jorge Ruiz-Orera # ,Camilla Ciolli Mattioli ,Susanne Blachut ,Eleonora Adami ,Jana Felicitas Schulz ,Valentin Schneider-Lunitz ,Oliver Hummel ,Giannino Patone ,Michael Benedikt Mücke ,Jan Šilhavý ,Matthias Heinig ,Leonardo Bottolo ,Daniel Sanchis ,Martin Vingron ,Marina Chekulaeva ,Michal Pravenec ,Norbert Hubner ,Sebastiaan van Heesch

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

疾病特异性变异致病性预测显著提高了遗传性心脏病变异的解读能力。

Zhang, Xiaolei; Walsh, Roddy; Whiffin, Nicola; Buchan, Rachel; Midwinter, William; Wilk, Alicja; Govind, Risha; Li, Nicholas; Ahmad, Mian; Mazzarotto, Francesco; Roberts, Angharad; Theotokis, Pantazis I; Mazaika, Erica; Allouba, Mona; de Marvao, Antonio; Pua, Chee Jian; Day, Sharlene M; Ashley, Euan; Colan, Steven D; Michels, Michelle; Pereira, Alexandre C; Jacoby, Daniel; Ho, Carolyn Y; Olivotto, Iacopo; Gunnarsson, Gunnar T; Jefferies, John L; Semsarian, Chris; Ingles, Jodie; O'Regan, Declan P; Aguib, Yasmine; Yacoub, Magdi H; Cook, Stuart A; Barton, Paul J R; Bottolo, Leonardo; Ware, James S

Leveraging Genetic Data to Elucidate the Relationship Between COVID-19 and Ischemic Stroke

利用基因数据阐明新冠肺炎与缺血性中风之间的关系

Zuber, Verena; Cameron, Alan; Myserlis, Evangelos P; Bottolo, Leonardo; Fernandez-Cadenas, Israel; Burgess, Stephen; Anderson, Christopher D; Dawson, Jesse; Gill, Dipender