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 diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing

使用稀有变异连锁分析和长读基因组测序对 1 型面肩肱型肌营养不良症进行基因诊断

Kun Li, Daniel Quiat, Fei She, Yuanwei Liu, Rong He, Alireza Haghighi, Fang Liu, Rui Zhang, Steven Robert DePalma, Ying Yang, Wen Wang, Christine E Seidman, Ping Zhang, Jonathan G Seidman

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

FOXI3基因的有害变异会导致小耳畸形和颅面短小症

Daniel Quiat ,Andrew T Timberlake ,Justin J Curran ,Michael L Cunningham ,Barbara McDonough ,Maria A Artunduaga ,Steven R DePalma ,Milagros M Duenas-Roque ,Joshua M Gorham ,Jonas A Gustafson ,Usama Hamdan ,Anne V Hing ,Paula Hurtado-Villa ,Yamileth Nicolau ,Gabriel Osorno ,Harry Pachajoa ,Gloria L Porras-Hurtado ,Lourdes Quintanilla-Dieck ,Luis Serrano ,Melissa Tumblin ,Ignacio Zarante ,Daniela V Luquetti ,Roland D Eavey ,Carrie L Heike ,Jonathan G Seidman ,Christine E Seidman

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

Experimental data from gas burner fires in residential structure with HVAC system

住宅建筑中带暖通空调系统的燃气燃烧器火灾实验数据

Weinschenk, Craig; Ghanekar, Shruti; Stakes, Keith; Quiat, Adam; Kessler, Richard M; Lee, Tonghun

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