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

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

家族性高胆固醇血症基因 LDLR 编码变异的功能图谱。

Tabet Daniel R, Coté Atina G, Lancaster Megan C, Weile Jochen, Rayhan Ashyad, Fotiadou Iosifina, Kishore Nishka, Li Roujia, Kuang Da, Knapp Jennifer J, Carrero Carmela S, Taverniti Olivia, Axakova Anna, Castelli Jack M P, Islam Mohammad M, Sowlati-Hashjin Shahin, Gandhi Aanshi, Maaieh Ranim, Garton Michael, Matreyek Kenneth, Fowler Douglas M, Bourbon Mafalda, Pfisterer Simon G, Glazer Andrew M, Kroncke Brett M, Parikh Victoria N, Ashley Euan A, Knowles Joshua W, Claussnitzer Melina, Cirulli Elizabeth T, Hegele Robert A, Roden Dan M, MacRae Calum A, Roth Frederick P

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

建立变异效应图谱,以解决意义未明的变异,并指导心血管医学研究。

Glazer, Andrew M; Tabet, Daniel R; Parikh, Victoria N; Kroncke, Brett M; Cote, Atina G; Yamamoto, Yuta; Wang, Qianru; Muhammad, Ayesha; Lancaster, Megan C; O'Neill, Matthew J; Weile, Jochen; Yang, Tao; Macrae, Calum A; Ashley, Euan A; Roth, Frederick P; Roden, Dan M

Social Determinants of Health and Clinical Outcomes in Hypertrophic Cardiomyopathy

肥厚型心肌病患者的健康社会决定因素和临床结局

Hafeez, Neha; Claggett, Brian L; Owens, Anjali T; Helms, Adam S; Saberi, Sara; Lampert, Rachel; Stendahl, John C; Ashley, Euan A; Parikh, Victoria N; Lakdawala, Neal K; Ingles, Jodie; Olivotto, Iacopo; Ho, Carolyn Y; Taylor, Matthew R; Khan, Sadiya S; Day, Sharlene M

Modified hTERT treatment ameliorates pressure overload-induced heart failure.

改良的hTERT治疗可改善压力负荷过重引起的心力衰竭。

Zhao Yinlong, Bao Xiaolu, Xiong Weiyao, Wan Xin, Yu Qingying, Wang Teng, Chang Andrew C H, Liu Yangyang, Wang Yanqiu, Shang Ching, Wu Min, Ashley Euan A, Lei Ming, Zhang Junfeng, Wu Yueheng, Han Wei, Chang Alex C Y

Developing therapeutics for rare cardiovascular diseases

开发罕见心血管疾病的治疗方法

Lerman, Joseph B; Koeberl, Dwight D; Epstein, Shilpi; Roessig, Lothar; Stan, Rodica; Halley, Meghan; Owens, Anjali T; Greenberg, Barry; Alexander, Kevin M; Day, Sharlene M; Maurer, Mathew S; Adler, Eric D; Hernandez, Adrian F; Ashley, Euan A; Felker, G Michael

Preventing premature deaths through polygenic risk scores

通过多基因风险评分预防过早死亡

Chuong, Melisa; Thompson, Deborah; Weale, Michael E; Riveros-Mckay, Fernando; Samani, Nilesh J; Wells, Daniel; Plagnol, Vincent; McVean, Gil; Ashley, Euan A; Donnelly, Peter; Harrison, Seamus; O'Sullivan, Jack W

Colocalization and functional analyses identify GBE1 as a gene linking muscle strength and cardiometabolic fitness

共定位和功能分析表明,GBE1 是一个连接肌肉力量和心血管代谢健康的基因。

Schnurr, Theresia M; Johnson, Miranda L; Jin, Christopher; Sørensen, Kimmie V; Kim, Lindsey; Jahng, James W; Ramste, Amanda; Bielczyk-Maczynska, Ewa; Gloudemans, Michael J; Saliba-Gustafsson, Peter; Vinton, Elena; Jurney, Patrick L; Carcamo-Orive, Ivan; Ashley, Euan A; Hansen, Torben; Knowles, Joshua W; Palmisano, Brian T

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy

低外显率肌节变异体增加肥厚型心肌病风险

Meisner, Joshua K; Renberg, Aaron; Smith, Eric D; Tsan, Yao-Chang; Elder, Brynn; Bullard, Abbey; Merritt, Owen L; Zheng, Sean L; Lakdawala, Neal K; Owens, Anjali T; Ryan, Thomas D; Miller, Erin M; Rossano, Joseph W; Lin, Kimberly Y; Claggett, Brian L; Ashley, Euan A; Michels, Michelle; Lampert, Rachel; Stendahl, John C; Abrams, Dominic; Semsarian, Christopher; Parikh, Victoria N; Wheeler, Matthew T; Ingles, Jodie; Olivotto, Iacopo; Day, Sharlene M; Saberi, Sara; Russell, Mark W; Previs, Michael; Ho, Carolyn Y; Ware, James S; Helms, Adam S

Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?

未确诊患者转化基因组学研究的可持续性:它是什么,为什么我们需要它,以及我们如何做到?

Young, Jennifer L; Tang, Charis; Liang, Lily; Ashley, Euan A; Tabor, Holly K; Halley, Meghan C

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

转录组学和长读长基因组学的整合优先考虑罕见病中的结构变异

Jensen, Tanner D; Ni, Bohan; Reuter, Chloe M; Gorzynski, John E; Fazal, Sarah; Bonner, Devon; Ungar, Rachel A; Goddard, Pagé C; Raja, Archana; Ashley, Euan A; Bernstein, Jonathan A; Zuchner, Stephan; Greicius, Michael D; Montgomery, Stephen B; Schatz, Michael C; Wheeler, Matthew T; Battle, Alexis