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

Genetics and Brain Health in Adults With Congenital Heart Disease: A Consensus Statement From the ACHD/Neuro 2024 Conference

先天性心脏病成人患者的遗传学与脑健康:ACHD/Neuro 2024 会议共识声明

Field, Thalia S; Morton, Sarah U; Brossard-Racine, Marie; Cohen, Scott; Feldman, Howard H; Chung, Ai Wern; Newburger, Jane W; Puder, Rick; Gurvitz, Michelle; Cassidy, Adam R

Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial

凝血酶原 G20210A 和 V 因子 Leiden 变异与先天性心脏病血栓事件无关:一项观察性试验

Ladha, Feria A; VanderPluym, Christina; Mondragon-Estrada, Enrique; Avillach, Paul; Brueckner, Martina; Chung, Wendy K; Cnota, James F; Gelb, Bruce D; Lewis, Matthew; Liu, Cong; Roberts, Amy E; Seidman, Christine E; Tristani-Firouzi, Martin; Wagner, Michael; Morton, Sarah U; Newburger, Jane W

Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU

质量改进计划旨在优化四级新生儿重症监护室中快速基因组测序的使用。

D'Gama, Alissa M; Hu, Rachel S; Del Rosario, Maya C; Hills, Sonia; Park, Hannah J; Mehra, Anna-Thérèse; Tannenbaum, Laura S; Morton, Sarah U; Agrawal, Pankaj B; Wojcik, Monica H

Genome admixture analysis of 1,030 Ugandan infants with neonatal sepsis and hydrocephalus demonstrates geographical stratification of population disease risk

对1030名患有新生儿败血症和脑积水的乌干达婴儿进行基因组混合分析表明,人群疾病风险存在地域分层。

Movassagh, Mercedeh; Newbury, Lucinda; Hehnly, Christine; Whalen, Andrew J; Peterson, Mallory; Mondragon-Estrada, Enrique; Ericson, Jessica E; Smith, Jasmine; Sasanami, Misaki; Natukwatsa, Davis; Mugamba, John; Ssenyonga, Peter; Onen, Justin; Burgoine, Kathy; Zhang, Lijun; Olupot-Olupot, Peter; Kumbakumba, Elias; Wegoye, Emmanuel; Ochora, Moses; Mulondo, Ronald; Mbabazi-Kabachelori, Edith; Fronterre, Claudio; Broach, James; Paulson, Joseph N; Morton, Sarah U; Schiff, Steven J

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

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

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

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study

利用外显子组和基因组测序诊断新生儿肌张力低下的遗传基础:一项国际联盟研究

Morton, Sarah U; Costain, Gregory; French, Courtney E; Wakeling, Emma; Szuto, Anna; Christodoulou, John; Cohn, Ronald; Darras, Basil T; Wojcik, Monica H; D'Gama, Alissa M; Dowling, James J; Lunke, Sebastian; Muntoni, Francesco; Raymond, Lucy; Rowitch, David; Beggs, Alan H; Stark, Zornitza; Agrawal, Pankaj B