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

Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations

对 672,976 名个体的全基因组测序分析显示,人体测量特征存在罕见和常见遗传关联,并揭示了二者之间的趋同性。

Hawkes, Gareth; Wright, Harrison I W; Beaumont, Robin N; Chundru, Kartik; Hanson, Aimee; Jackson, Leigh; Murray, Anna; Patel, Kashyap; Frayling, Timothy M; Wright, Caroline F; Wood, Andrew R; Weedon, Michael N

Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks

基因型优先检测方法揭示单基因脂肪营养不良症诊断不足,存在健康和死亡风险。

Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Evans, Amy V; Hattersley, Andrew T; Weedon, Michael N; Brown, Rebecca J; Patel, Kashyap A

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY

对 MODY 基因中功能缺失变异的系统分析表明,这些变异具有基因特异性效应,并扩展了导致 MODY 的 INS 变异谱。

Laver, Thomas W; Sriram, Aparajita; Wakeling, Matthew N; Şiklar, Zeynep; Kobaisi, Farah; Kalyon, Oguzhan; Hattersley, Andrew T; Weedon, Michael N; Flanagan, Sarah E; De Franco, Elisa; Colclough, Kevin; Patel, Kashyap A

Impact of control selection strategies on GWAS results: a study of prostate cancer in the UK Biobank

对照选择策略对全基因组关联研究结果的影响:一项基于英国生物样本库的前列腺癌研究

Lu, Jingzhan; Thygesen, Johan H; Beaumont, Robin N; Weedon, Michael N; Green, Harry D

No evidence for genotype-treatment interactions with breast cancer endocrine therapy adverse effects in UK Biobank

英国生物银行研究未发现基因型与乳腺癌内分泌治疗不良反应之间存在相互作用的证据。

Mokbel, Kinan; Weedon, Michael N; Moye, Victoria; Ruth, Katherine S; Jackson, Leigh

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify

MODY在晚发型糖尿病中较为常见,具有靶向治疗的潜力,但识别难度较大。

Sharp, Luke N; Mirshahi, Uyenlinh L; Colclough, Kevin; Hall, Timothy S; Haley, Jeremy S; Cannon, Stuart J; Laver, Thomas W; Weedon, Michael N; Hattersley, Andrew T; Carey, David J; Patel, Kashyap A

Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY

基因确诊的MODY的患病率、外显率和死亡率

Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Cannon, Stuart J; Laver, Thomas W; Hattersley, Andrew T; Weedon, Michael N; Patel, Kashyap A

The Impact of Ancestry on Performance of Type 1 Diabetes Genetic Risk Scores: High Discrimination Performance Is Maintained in African Ancestry Populations, but Population-Specific Thresholds May Improve Risk Prediction

祖源对1型糖尿病遗传风险评分性能的影响:在非洲裔人群中保持了较高的区分度,但针对特定人群的阈值可能有助于提高风险预测能力。

Squires, Steven; Katte, Jean Claude; Dabelea, Dana; Pihoker, Catherine; Divers, Jasmin; Sobngwi, Eugene; Nyirenda, Moffat J; Kreienkamp, Raymond J; Liese, Angela D; Shah, Amy S; Dolan, Lawrence; Reynolds, Kristi; Redondo, Maria J; Hagopian, William; Fatumo, Segun; Dehayem, Mesmin Y; Hattersley, Andrew T; Weedon, Michael N; Jones, Angus; Oram, Richard A

Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels

全基因组测序分析可识别与循环蛋白水平相关的罕见、大效应非编码变异和调控区域。

Hawkes, Gareth; Chundru, Kartik; Jackson, Leigh; Patel, Kashyap A; Murray, Anna; Wood, Andrew R; Wright, Caroline F; Weedon, Michael N; Frayling, Timothy M; Beaumont, Robin N

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes

常见遗传变异会影响单基因糖尿病的疾病风险和临床表现。

Murray Leech, Jacques; Beaumont, Robin N; Arni, Ankit M; Chundru, V Kartik; Sharp, Luke N; Colclough, Kevin; Hattersley, Andrew T; Weedon, Michael N; Patel, Kashyap A