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

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

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

Remote Cardiac Safety Monitoring through the Lens of the FDA Biomarker Qualification Evidentiary Criteria Framework: A Case Study Analysis

从FDA生物标志物鉴定证据标准框架视角探讨远程心脏安全监测:案例研究分析

Izmailova, Elena S; Wood, William A; Liu, Qi; Zipunnikov, Vadim; Bloomfield, Daniel; Homsy, Jason; Hoffmann, Steven C; Wagner, John A; Menetski, Joseph P

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

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

基于孟德尔错误聚类的外显子组和基因组序列数据中缺失的稳健识别

Manheimer, Kathryn B; Patel, Nihir; Richter, Felix; Gorham, Joshua; Tai, Angela C; Homsy, Jason; Boskovski, Marko T; Parfenov, Michael; Goldmuntz, Elizabeth; Chung, Wendy K; Brueckner, Martina; Tristani-Firouzi, Martin; Srivastava, Deepak; Seidman, Jonathan G; Seidman, Christine E; Gelb, Bruce D; Sharp, Andrew J

Robust identification of mosaic variants in congenital heart disease

先天性心脏病嵌合变异的可靠识别

Manheimer, Kathryn B; Richter, Felix; Edelmann, Lisa J; D'Souza, Sunita L; Shi, Lisong; Shen, Yufeng; Homsy, Jason; Boskovski, Marko T; Tai, Angela C; Gorham, Joshua; Yasso, Christopher; Goldmuntz, Elizabeth; Brueckner, Martina; Lifton, Richard P; Chung, Wendy K; Seidman, Christine E; Seidman, J G; Gelb, Bruce D

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

2871例先天性心脏病先证者中罕见遗传变异和新发变异的贡献

Jin, Sheng Chih; Homsy, Jason; Zaidi, Samir; Lu, Qiongshi; Morton, Sarah; DePalma, Steven R; Zeng, Xue; Qi, Hongjian; Chang, Weni; Sierant, Michael C; Hung, Wei-Chien; Haider, Shozeb; Zhang, Junhui; Knight, James; Bjornson, Robert D; Castaldi, Christopher; Tikhonoa, Irina R; Bilguvar, Kaya; Mane, Shrikant M; Sanders, Stephan J; Mital, Seema; Russell, Mark W; Gaynor, J William; Deanfield, John; Giardini, Alessandro; Porter, George A Jr; Srivastava, Deepak; Lo, Cecelia W; Shen, Yufeng; Watkins, W Scott; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Newburger, Jane W; Roberts, Amy E; Kim, Richard; Zhao, Hongyu; Kaltman, Jonathan R; Goldmuntz, Elizabeth; Chung, Wendy K; Seidman, Jonathan G; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

先天性心脏病伴神经发育异常和其他先天性异常的新生突变

Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S; Samocha, Kaitlin E; Karczewski, Konrad J; DePalma, Steven R; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A Jr; Kim, Richard; Bilguvar, Kaya; López-Giráldez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E; Russell, Mark W; Mital, Seema; Newburger, Jane W; Gaynor, J William; Breitbart, Roger E; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J; Kaltman, Jonathan R; Seidman, Jonathan G; Brueckner, Martina; Gelb, Bruce D; Goldmuntz, Elizabeth; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K

Interpreting de novo Variation in Human Disease Using denovolyzeR

利用 denovolyzeR 解读人类疾病中的新生变异

Ware, James S; Samocha, Kaitlin E; Homsy, Jason; Daly, Mark J

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

通过对单核苷酸多态性芯片和外显子组测序数据的整合分析,发现先天性心脏病中新生拷贝数变异的频率增加。

Glessner, Joseph T; Bick, Alexander G; Ito, Kaoru; Homsy, Jason; Rodriguez-Murillo, Laura; Fromer, Menachem; Mazaika, Erica; Vardarajan, Badri; Italia, Michael; Leipzig, Jeremy; DePalma, Steven R; Golhar, Ryan; Sanders, Stephan J; Yamrom, Boris; Ronemus, Michael; Iossifov, Ivan; Willsey, A Jeremy; State, Matthew W; Kaltman, Jonathan R; White, Peter S; Shen, Yufeng; Warburton, Dorothy; Brueckner, Martina; Seidman, Christine; Goldmuntz, Elizabeth; Gelb, Bruce D; Lifton, Richard; Seidman, Jonathan; Hakonarson, Hakon; Chung, Wendy K