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

Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.

人类先天性心脏病中的结构变异会破坏发育基因的远端基因组调控联系。

Lee Jodi, Wu Jingshing, Pittman Maureen, Grant Zoe L, Kuang Shuzhen, Quiat Daniel, Morton Sarah U, Fudenberg Geoff, Traglia Michela, Hayes Kelly A, Kumar Ritu, Bruneau Benoit G, Pollard Katherine S

Mitral annular disjunction distance is associated with adverse outcomes in children and young adults with connective tissue disorders

二尖瓣环分离距离与患有结缔组织疾病的儿童和青少年的不良预后相关。

Castellanos, Daniel A; Barfuss, Spencer B; DiBiasio-Hudson, Noah; Lee, Grace; DeWitt, Elizabeth; O'Leary, Edward T; Sleeper, Lynn A; Carreon, Chrystalle Katte; Sanders, Stephen P; Quiat, Daniel; Singh, Michael N; Ghelani, Sunil J; Lacro, Ronald V

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing

通过短读长和长读长基因组测序鉴定出CHD基因附近串联重复元件变异的富集

Suresh, Abhilash; Morton, Sarah U; Quiat, Daniel; DePalma, Steven R; Gorham, Joshua M; Brueckner, Martina; Tristani-Firouzi, Martin; Gelb, Bruce D; Seidman, Jonathan G; Seidman, Christine E

Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes

DSCAM 升高导致内皮硬化蛋白增加,介导多种 21 三体综合征表型

David M McKean, Qi Zhang, Priyanka Narayan, Sarah U Morton, Viktoria Strohmenger, Vi T Tang, Sophie McAllister, Ananya Sharma, Daniel Quiat, Daniel Reichart, Daniel M DeLaughter, Hiroko Wakimoto, Joshua M Gorham, Kemar Brown, Barbara McDonough, Jon A Willcox, Min Young Jang, Steven R DePalma, Tarsha

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation

遗传因素对需要心脏移植的终末期心肌病的影响

Kim, Yuri; Gunnarsdóttir, Oddný Brattberg; Viveiros, Anissa; Reichart, Daniel; Quiat, Daniel; Willcox, Jon A L; Zhang, Hao; Chen, Huachen; Curran, Justin J; Kim, Daniel H; Urschel, Simon; McDonough, Barbara; Gorham, Joshua; DePalma, Steven R; Seidman, Jonathan G; Seidman, Christine E; Oudit, Gavin Y

Genomic frontiers in congenital heart disease

先天性心脏病基因组学前沿

Morton, Sarah U; Quiat, Daniel; Seidman, Jonathan G; Seidman, Christine E

Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk

心脏线粒体DNA变异或拷贝数均不增加先天性心脏病风险。

Willcox, Jon A L; Geiger, Joshua T; Morton, Sarah U; McKean, David; Quiat, Daniel; Gorham, Joshua M; Tai, Angela C; DePalma, Steven; Bernstein, Daniel; Brueckner, Martina; Chung, Wendy K; Giardini, Alessandro; Goldmuntz, Elizabeth; Kaltman, Jonathan R; Kim, Richard; Newburger, Jane W; Shen, Yufeng; Srivastava, Deepak; Tristani-Firouzi, Martin; Gelb, Bruce; Porter, George A Jr; Seidman, J G; Seidman, Christine E

Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis

英国生物银行分析:Plakophilin-2 过早截断变异体的群体患病率及其与致心律失常性右室心肌病的关联

Hylind, Robyn J; Pereira, Alexandre C; Quiat, Daniel; Chandler, Stephanie F; Roston, Thomas M; Pu, William T; Bezzerides, Vassilios J; Seidman, Jonathan G; Seidman, Christine E; Abrams, Dominic J

Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity

先天性心脏病中的全基因组新生变异与母亲患有糖尿病或肥胖症无关

Morton, Sarah U; Pereira, Alexandre C; Quiat, Daniel; Richter, Felix; Kitaygorodsky, Alexander; Hagen, Jacob; Bernstein, Daniel; Brueckner, Martina; Goldmuntz, Elizabeth; Kim, Richard W; Lifton, Richard P; Porter, George A Jr; Tristani-Firouzi, Martin; Chung, Wendy K; Roberts, Amy; Gelb, Bruce D; Shen, Yufeng; Newburger, Jane W; Seidman, J G; Seidman, Christine E

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

基因中有害变异与先天性心脏病患者癌症风险增加的关联

Morton, Sarah U; Shimamura, Akiko; Newburger, Peter E; Opotowsky, Alexander R; Quiat, Daniel; Pereira, Alexandre C; Jin, Sheng Chih; Gurvitz, Michelle; Brueckner, Martina; Chung, Wendy K; Shen, Yufeng; Bernstein, Daniel; Gelb, Bruce D; Giardini, Alessandro; Goldmuntz, Elizabeth; Kim, Richard W; Lifton, Richard P; Porter, George A Jr; Srivastava, Deepak; Tristani-Firouzi, Martin; Newburger, Jane W; Seidman, J G; Seidman, Christine E