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

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

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

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions

远端22q11.22-23染色体缺失个体先天性心脏病的患病率和谱系

Nelson, Tanner J; McGinn, Daniel E; Crowley, T Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S; Zackai, Elaine H; Zhang, Zhengdong D; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S; Morrow, Bernice E; McDonald-McGinn, Donna M

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease

利用机器学习推断患有先天性心脏病的青少年和年轻成人的神经认知测试分数

Hussain, Mohammad Arafat; He, Sheng; Adams, Heather R; Anagnoustou, Evdokia; Bellinger, David C; Brueckner, Martina; Chung, Wendy K; Cleveland, John; Gelb, Bruce D; Goldmuntz, Elizabeth; Hagler, Donald J Jr; Huang, Hao; McQuillen, Patrick; Miller, Thomas A; Norris-Brilliant, Ami; Porter, George A Jr; Thomas, Nina; Tivarus, Madalina E; Xu, Duan; Shen, Yufeng; Newburger, Jane W; Grant, P Ellen; Morton, Sarah U; Ou, Yangming

Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease

基于图的原型逆投影法用于识别先天性心脏病皮质沟回模式异常

Kwon, Hyeokjin; Son, Seungyeon; Morton, Sarah U; Wypij, David; Cleveland, John; Rollins, Caitlin K; Huang, Hao; Goldmuntz, Elizabeth; Panigrahy, Ashok; Thomas, Nina H; Chung, Wendy K; Anagnostou, Evdokia; Norris-Brilliant, Ami; Gelb, Bruce D; McQuillen, Patrick; Porter, George A Jr; Tristani-Firouzi, Martin; Russell, Mark W; Roberts, Amy E; Newburger, Jane W; Grant, P Ellen; Lee, Jong-Min; Im, Kiho

Recessive genetic contribution to congenital heart disease in 5,424 probands

5424例先证者中隐性遗传因素对先天性心脏病的影响

Dong, Weilai; Jin, Sheng Chih; Sierant, Michael C; Lu, Ziyu; Li, Boyang; Lu, Qiongshi; Morton, Sarah U; Zhang, Junhui; López-Giráldez, Francesc; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; Cnota, James F; Wagner, Michael; Srivastava, Deepak; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Seidman, Jonathan; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

对 11,555 名先证者的基因组分析鉴定出 60 个显性先天性心脏病基因

Sierant, Michael C; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; López-Giráldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Choi, Jungmin; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; King, Eileen; Wagner, Michael; Srivastava, Deepak; Shen, Yufeng; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane W; Seidman, Jonathan G; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Brueckner, Martina; Lifton, Richard P

Cardiovascular magnetic resonance imaging traits associated with adverse right ventricular remodeling in repaired tetralogy of Fallot: A Single Center Outcomes Using cardiovascular magnetic resonance in Tetralogy of Fallot study

心血管磁共振成像特征与法洛四联症术后右心室不良重构的相关性:一项单中心应用心血管磁共振成像治疗法洛四联症的研究

Thompson, Elizabeth W; Dong, Ningiun J; Kim, Jin-Seo; Bhattaru, Abhijit; Vu, Phuong; Hu, Fengling; Shinohara, Russell T; Swago, Sophia; Donnelly, Elizabeth; Zhang, Xuemei; Loth, Annefleur; Vuthuri, Lipika; Lanzilotta, Kristen; Whitehead, Kevin K; Duda, Jeffrey; Gee, James; Almasy, Laura; Goldmuntz, Elizabeth; Fogel, Mark A; Witschey, Walter R

Atrial Right-to-Left Shunting After Tetralogy of Fallot Repair Is Associated With Improved Atrial Function and Shorter Hospital Length of Stay: An Echocardiographic Cohort Study

法洛四联症修复术后心房右向左分流与心房功能改善和住院时间缩短相关:一项超声心动图队列研究

Delaney, Marc A; Bennett, Laura; Faerber, Jennifer A; Jones, Andrea L; Mai, Anh Duc; Ekhomu, Omonigho; Wang, Yan; Goldmuntz, Elizabeth; Naim, Maryam Y; Gardner, Monique M; Friedberg, Mark K; Mercer-Rosa, Laura