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

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

常见的顺式调控变异会改变致病性SHROOM3变异在颅面短小症中的外显率

Zhu, Hao; Zhang, Jiao; Rao, Soumya; Durbin, Matthew D; Li, Ying; Lang, Ruirui; Liu, Jiqiang; Xiao, Baichuan; Shan, Hailin; Meng, Ziqiu; Wang, Jinmo; Tang, Xiaokai; Shi, Zhenni; Cox, Liza L; Zhao, Shouqin; Ware, Stephanie M; Tan, Tiong Y; de Silva, Michelle; Gallacher, Lyndon; Liu, Ting; Mi, Jie; Zeng, Changqing; Zheng, Hou-Feng; Zhang, Qingguo; Antonarakis, Stylianos E; Cox, Timothy C; Zhang, Yong-Biao

Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease

基于畸形学的先天性心脏病患儿遗传疾病预测模型

Helm, Benjamin M; Wetherill, Leah; Landis, Benjamin J; Ware, Stephanie M

Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease

鉴定与先天性心脏病临床报告的拷贝数变异相关的长链非编码RNA候选疾病基因

Penaloza, Jacqueline S; Moreland, Blythe; Gaither, Jeffrey B; Landis, Benjamin J; Ware, Stephanie M; McBride, Kim L; White, Peter

Genomics of pediatric cardiomyopathy

儿童心肌病基因组学

Lee, Teresa M; Ware, Stephanie M; Kamsheh, Alicia M; Bhatnagar, Surbhi; Absi, Mohammed; Miller, Elyse; Purevjav, Enkhsaikhan; Ryan, Kaitlin A; Towbin, Jeffrey A; Lipshultz, Steven E

Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.

基因组和转录组联合分析揭示了马凡综合征患者主动脉疾病的分子特征

Stanley Katherine B, Mederos Alexa V, Barksdale Ethan H, Corvera Joel S, Davis Joshua L, Fang Fang, Gao Hongyu, Vujakovich Courtney E, Liu Yunlong, Ware Stephanie M, Landis Benjamin J

Evaluating first-line genetic testing strategies for inpatients with congenital heart defects

评估先天性心脏病住院患者的一线基因检测策略

Lindstrom, Al; Breman, Amy; Fitzgerald-Butt, Sara; Helvaty, Lindsey R; Ware, Stephanie M; Helm, Benjamin M

A CRISPR mis-insertion in the Zic3 5'UTR inhibits in vivo translation and is predicted to result in formation of an mRNA stem-loop hairpin.

Zic3 5'UTR 中的 CRISPR 错误插入会抑制体内翻译,预计会导致 mRNA 茎环发夹的形成

Bellchambers Helen M, Padua Maria B, Ware Stephanie M

Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs

儿科心肌病项目中的基因检测资源和实践模式

Godown, Justin; Kim, Emily H; Everitt, Melanie D; Chung, Wendy K; Lytrivi, Irene D; Kirmani, Sonya; Kantor, Paul F; Ware, Stephanie M; Ballweg, Jean A; Lal, Ashwin K; Bansal, Neha; Towbin, Jeffrey; Lipshultz, Steven E; Lee, Teresa M

Gpr101 expression during early stages of murine development

小鼠发育早期阶段的Gpr101表达

Wells, John R; Padua, Maria B; Ware, Stephanie M

Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery

早期确定基因诊断有助于明确其对新生儿先天性心脏病手术后中期生存率的影响

Landis, Benjamin J; Helm, Benjamin M; Durbin, Matthew D; Helvaty, Lindsey R; Herrmann, Jeremy L; Johansen, Michael; Geddes, Gabrielle C; Ware, Stephanie M