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

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element

与房间隔缺损相关的ROBO2变异定义了一种新的调控元件

Kim, Seong Won; Parfenov, Michael; Rodriguez-Murillo, Laura; Conner, David A; Sharma, Arun; Peter, Inga; Xiao, Feng; Layton, Olivia; Tai, Angela; Ward, Tarsha; Wasson, Lauren K; Gorham, Joshua M; Mazaika, Erica; Lagomarsino, Valentina N; Young-Pearse, Tracy L; Goldmuntz, Elizabeth; Wakimoto, Hiroko; Agopian, A J; McKean, David M; DePalma, Steven R; Pu, William T; Seidman, Christine E; Gelb, Bruce D; Seidman, Jonathan G

Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.

利用诱导多能干细胞模拟SMAD2突变,有助于深入了解心血管疾病的发病机制

Ward Tarsha, Morton Sarah U, Venturini Gabriela, Tai Warren, Jang Min Young, Gorham Joshua, Delaughter Dan, Wasson Lauren K, Khazal Zahra, Homsy Jason, Gelb Bruce D, Chung Wendy K, Bruneau Benoit G, Brueckner Martina, Tristani-Firouzi Martin, DePalma Steven R, Seidman Christine, Seidman J G

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

先天性心脏病中的非编码变异和脑沟模式:利用机器学习预测其功能影响

Mondragon-Estrada, Enrique; Newburger, Jane W; DePalma, Steven R; Brueckner, Martina; Cleveland, John; Chung, Wendy K; Gelb, Bruce D; Goldmuntz, Elizabeth; Hagler, Donald J Jr; Huang, Hao; McQuillen, Patrick; Miller, Thomas A; Panigrahy, Ashok; Porter, George A Jr; Roberts, Amy E; Rollins, Caitlin K; Russell, Mark W; Tristani-Firouzi, Martin; Grant, P Ellen; Im, Kiho; Morton, Sarah U

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

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

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

NAA15单倍体不足引起的先天性心脏病的机制

Ward, Tarsha; Tai, Warren; Morton, Sarah; Impens, Francis; Van Damme, Petra; Van Haver, Delphi; Timmerman, Evy; Venturini, Gabriela; Zhang, Kehan; Jang, Min Young; Willcox, Jon A L; Haghighi, Alireza; Gelb, Bruce D; Chung, Wendy K; Goldmuntz, Elizabeth; Porter, George A Jr; Lifton, Richard P; Brueckner, Martina; Yost, H Joseph; Bruneau, Benoit G; Gorham, Joshua; Kim, Yuri; Pereira, Alexandre; Homsy, Jason; Benson, Craig C; DePalma, Steven R; Varland, Sylvia; Chen, Christopher S; Arnesen, Thomas; Gevaert, Kris; Seidman, Christine; Seidman, J G

Discordant clinical features of identical hypertrophic cardiomyopathy twins

同卵肥厚型心肌病双胞胎临床特征不一致

Repetti, Giuliana G; Kim, Yuri; Pereira, Alexandre C; Ingles, Jodie; Russell, Mark W; Lakdawala, Neal K; Ho, Carolyn Y; Day, Sharlene; Semsarian, Christopher; McDonough, Barbara; DePalma, Steven R; Quiat, Daniel; Green, Eric M; Seidman, Christine E; Seidman, J G

Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy

非经典剪接变异体对TTN截断变异型心肌病的影响

Patel, Parth N; Ito, Kaoru; Willcox, Jon A L; Haghighi, Alireza; Jang, Min Young; Gorham, Joshua M; DePalma, Steven R; Lam, Lien; McDonough, Barbara; Johnson, Renee; Lakdawala, Neal K; Roberts, Amy; Barton, Paul J R; Cook, Stuart A; Fatkin, Diane; Seidman, Christine E; Seidman, J G

Genomic analyses implicate noncoding de novo variants in congenital heart disease

基因组分析表明,非编码新生变异与先天性心脏病有关。

Richter, Felix; Morton, Sarah U; Kim, Seong Won; Kitaygorodsky, Alexander; Wasson, Lauren K; Chen, Kathleen M; Zhou, Jian; Qi, Hongjian; Patel, Nihir; DePalma, Steven R; Parfenov, Michael; Homsy, Jason; Gorham, Joshua M; Manheimer, Kathryn B; Velinder, Matthew; Farrell, Andrew; Marth, Gabor; Schadt, Eric E; Kaltman, Jonathan R; Newburger, Jane W; Giardini, Alessandro; Goldmuntz, Elizabeth; Brueckner, Martina; Kim, Richard; Porter, George A Jr; Bernstein, Daniel; Chung, Wendy K; Srivastava, Deepak; Tristani-Firouzi, Martin; Troyanskaya, Olga G; Dickel, Diane E; Shen, Yufeng; Seidman, Jonathan G; Seidman, Christine E; Gelb, Bruce D

Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy

与癌症治疗诱发的心肌病相关的基因变异

Garcia-Pavia, Pablo; Kim, Yuri; Restrepo-Cordoba, Maria Alejandra; Lunde, Ida G; Wakimoto, Hiroko; Smith, Amanda M; Toepfer, Christopher N; Getz, Kelly; Gorham, Joshua; Patel, Parth; Ito, Kaoru; Willcox, Jonathan A; Arany, Zoltan; Li, Jian; Owens, Anjali T; Govind, Risha; Nuñez, Beatriz; Mazaika, Erica; Bayes-Genis, Antoni; Walsh, Roddy; Finkelman, Brian; Lupon, Josep; Whiffin, Nicola; Serrano, Isabel; Midwinter, William; Wilk, Alicja; Bardaji, Alfredo; Ingold, Nathan; Buchan, Rachel; Tayal, Upasana; Pascual-Figal, Domingo A; de Marvao, Antonio; Ahmad, Mian; Garcia-Pinilla, Jose Manuel; Pantazis, Antonis; Dominguez, Fernando; John Baksi, A; O'Regan, Declan P; Rosen, Stuart D; Prasad, Sanjay K; Lara-Pezzi, Enrique; Provencio, Mariano; Lyon, Alexander R; Alonso-Pulpon, Luis; Cook, Stuart A; DePalma, Steven R; Barton, Paul J R; Aplenc, Richard; Seidman, Jonathan G; Ky, Bonnie; Ware, James S; Seidman, Christine E