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

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve

全基因组和转录组分析鉴定出多个候选基因,并揭示了二叶式主动脉瓣中显著的多基因贡献

Thériault, Sébastien; Holdcraft, Jacob A; Sharipova, Dinara; Faucherre, Adèle; Debiec, Radoslaw M; Peloso, Gina M; Al-Kassou, Baravan; Aranki, Sary; Ashikhmina Swan, Elena; Ballotta, Andrea; Bellino, Michele; Björck, Hanna M; Boureau, Anne Sophie; Braund, Peter S; Corriveau, François; Dagenais, François; Folkersen, Lasse; Forte, Amalia; Francke, Michael D; Frigiola, Alessandro; Gorbatov, Svetlana; Guo, Dongchuan; Habchi, Karam M; Heydarpour, Mahyar; Isselbacher, Eric M; Jopling, Chris; Laporte, Fabien; Le Scouarnec, Solena; Li, Zhonglin; Lichtner, Peter; Maj, Carlo; Manikpurage, Hasanga D; Nelson, Christopher P; Nguyen, Thy B; Norris, Russell A; Ong, Chin Siang; Pibarot, Philippe; Roychowdhury, Tanmoy; Sarubbi, Berardo; Simonet, Floriane; Sundt, Thoralf; Surakka, Ida; Tessler, Idit; Willer, Cristen J; Wittmann, Susanne; Yang, Bo; Berezovets, Igor; Doppler, Stefanie A; Dreßen, Martina; Knoll, Katharina; Puehler, Thomas; Schunkert, Heribert; Avierinos, Jean-François; Bissell, Malenka M; Bolger, Aidan P; Bossé, Yohan; Bossone, Eduardo; Brion, María; Citro, Rodolfo; de Vincentiis, Carlo; Deeb, G Michael; Della Corte, Alessandro; Dina, Christian; Durst, Ronen; Ensminger, Stephan; Eriksson, Per; Evangelista, Arturo; Franco-Cereceda, Anders; Gilon, Dan; Giusti, Betti; Hetherington, Simon L; Huggins, Gordon S; Krane, Markus; Le Tourneau, Thierry; Limongelli, Giuseppe; Mathieu, Patrick; Messika-Zeitoun, David; Michelena, Hector I; Milewicz, Dianna; Muehlschlegel, Jochen D; Murdock, David R; Nickenig, Georg; Nistri, Stefano; Nöthen, Markus M; Pluchinotta, Francesca; Prakash, Siddharth K; Samani, Nilesh J; Schott, Jean-Jacques; Webb, Tom R; Zaffran, Stéphane; Abdelilah-Seyfried, Salim; Eagle, Kim; Schumacher, Johannes; Trenkwalder, Teresa; Body, Simon C

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

基因组测序揭示了假外显子在罕见遗传病中的作用

Pitsava, Georgia; Hawley, Megan; Auriga, Light; de Dios, Ivan; Ko, Arthur; Marmolejos, Sofia; Almalvez, Miguel; Chen, Ingrid; Scozzaro, Kaylee; Zhao, Jianhua; Barrick, Rebekah; Ah Mew, Nicholas; Fusaro, Vincent A; LoTempio, Jonathan; Taylor, Matthew; Mestroni, Luisa; Graw, Sharon; Milewicz, Dianna; Guo, Dongchuan; Murdock, David R; Bujakowska, Kinga M; Xiao, Changrui; Délot, Emmanuèle C; Berger, Seth I; Vilain, Eric

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.

MYH11 罕见变异可促进主动脉生长,并诱发心脏肥大和压力负荷过重引起的心力衰竭

Zhou Zhen, Hughes Kgosi, Saif Nisha, Kim Hyoseon, Massett Michael P, Zheng Mingjie, Cecchi Alana C, Guo Dongchuan, Murdock David R, Pan Ping, Clinton Jelita S, Wang Jun, Greally John M, Milewicz Dianna M

Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection

以基因组为先导的胸主动脉瘤和夹层罕见及常见变异风险评估方法

DePaolo, John; Smelser, Diane T; Guo, Dongchuan; Abramowitz, Sarah; Sisti, Gina; Judy, Renae; Desai, Nimesh; Szeto, Wilson Y; Levin, Michael G; Mirshahi, Hannah; Salzler, Gregory; Ryer, Evan; Elmore, James R; LeMaire, Scott A; Carey, David J; Milewicz, Dianna M; Damrauer, Scott M

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium

遗传性胸主动脉疾病中的二叶式主动脉瓣:来自蒙塔尔奇诺主动脉联盟的见解

Asokan, Kishan L; Muraly, Neha; Guo, Dongchuan; Shah, Deep M; Martinez, Ernesto C; Cervi, Elena; De Backer, Julie; Mosquera, Laura Muiño; Renders, Wannes; Braverman, Alan C; Lim, Michelle; Ouzonian, Maral; Jeremy, Richmond W; Morris, Shaine A; Volguina, Irina V; Niaz, Talha; Yetman, Anji T; Jantzen, David W; Teixido-Tura, Gisela; Evangelista, Arturo; Jondeau, Guillaume; Milleron, Olivier; Milewicz, Dianna M; Prakash, Siddharth K

Predicting Thoracic Aortic Dissection in a Diverse Biobank Using a Polygenic Risk Score

利用多基因风险评分预测多样化生物样本库中的胸主动脉夹层

DePaolo, John; Zamirpour, Siavash; Abramowitz, Sarah; Biagetti, Gina; Judy, Renae; Beeche, Cameron; Duda, Jeffrey; Gee, James; Witschey, Walter R; Chirinos, Julio A; Goel, Nicholas J; Desai, Nimesh; Szeto, Wilson Y; Guo, Dongchuan; Milewicz, Dianna M; Levin, Michael G; Pirruccello, James P; Damrauer, Scott M

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

全外显子组测序揭示了伴有早发并发症的家族中二叶式主动脉瓣的遗传复杂性

Mansoorshahi, Sara; Yetman, Anji T; Bissell, Malenka M; Kim, Yuli Y; Michelena, Hector I; De Backer, Julie; Mosquera, Laura Muiño; Hui, Dawn S; Caffarelli, Anthony; Andreassi, Maria G; Foffa, Ilenia; Guo, Dongchuan; Citro, Rodolfo; De Marco, Margot; Tretter, Justin T; Morris, Shaine A; Body, Simon C; Chong, Jessica X; Bamshad, Michael J; Milewicz, Dianna M; Prakash, Siddharth K

Differentiation between descending thoracic aortic diseases using machine learning and plasma proteomic signatures

利用机器学习和血浆蛋白质组学特征鉴别降主动脉疾病

Momenzadeh, Amanda; Kreimer, Simion; Guo, Dongchuan; Ayres, Matthew; Berman, Daniel; Chyu, Kuang-Yuh; Shah, Prediman K; Milewicz, Dianna; Azizzadeh, Ali; Meyer, Jesse G; Parker, Sarah

Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve

罕见的基因组拷贝数变异提示二叶式主动脉瓣可能存在新的候选基因

Carlisle, Steven G; Albasha, Hasan; Michelena, Hector I; Sabate-Rotes, Anna; Bianco, Lisa; De Backer, Julie; Mosquera, Laura Muiño; Yetman, Anji T; Bissell, Malenka M; Andreassi, Maria Grazia; Foffa, Ilenia; Hui, Dawn S; Caffarelli, Anthony; Kim, Yuli Y; Guo, Dongchuan; Citro, Rodolfo; De Marco, Margot; Tretter, Justin T; McBride, Kim L; Milewicz, Dianna M; Body, Simon C; Prakash, Siddharth K

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome

SAMHD1复合杂合罕见变异与烟雾病和二尖瓣疾病相关,但无艾卡迪-古蒂埃综合征的其他特征。

Karla, Aamuktha R; Pinard, Amélie; Boerio, Maura L; Hemelsoet, Dimitri; Tavernier, Simon J; De Pauw, Michel; Vereecke, Elke; Fraser, Stuart; Bamshad, Michael J; Guo, Dongchuan; Callewaert, Bert; Milewicz, Dianna M