Durbin Matthew D相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

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

期刊:Genome Research

影响因子:5.5

doi:10.1101/gr.280047.124

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

发表日期：2025

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Role of Maternal Obesity in Offspring Cardiovascular Development and Congenital Heart Defects.

母体肥胖对后代心血管发育和先天性心脏缺陷的影响

期刊:Journal of the American Heart Association

影响因子:5.3

doi:10.1161/JAHA.124.039684

McMullan Ashleigh, Zwierzynski James B, Jain Nina, Haneline Laura S, Shou Weinian, Kua Kok Lim, Hota Swetansu K, Durbin Matthew D

发表日期：2025

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Deciphering epigenetic control of Notch signaling in persistent pulmonary hypertension of the newborn

揭示新生儿持续性肺动脉高压中Notch信号通路的表观遗传调控

期刊:Pediatric Research

影响因子:3.1

doi:10.1038/s41390-025-04234-3

Durbin, Matthew D; Tingay, David G; Kua, Kok Lim

肺动脉高压

发表日期：2025

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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

期刊:Journal of Clinical Investigation

影响因子:13.6

doi:10.1172/JCI180098

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

发表日期：2024

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Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

先天性心脏病和心肌病的临床遗传和基因组检测

期刊:Journal of Clinical Medicine

影响因子:2.9

doi:10.3390/jcm13092544

Pidaparti, Mahati; Geddes, Gabrielle C; Durbin, Matthew D

发表日期：2024

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Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects

快速基因组测序在先天性心脏病患儿的诊断中显示出应用价值

doi:10.21203/rs.3.rs-3976548/v1

Durbin, Matthew D; Helvaty, Lindsey R; Posorske, Alyx; Zhang, Samuel; Huang, Manyan; Li, Ming; Abreu, Daniel; Fairman, Korre; Geddes, Gabrielle C; Helm, Benjamin M; Landis, Benjamin J; McEntire, Alexis; Mitchell, Dana K; Ware, Stephanie M

发表日期：2024

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Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy

中心体结构重组受损是人类婴儿扩张型心肌病的基础

期刊:Circulation

影响因子:38.6

doi:10.1161/CIRCULATIONAHA.122.060985

Chun, Young Wook; Miyamoto, Matthew; Williams, Charles H; Neitzel, Leif R; Silver-Isenstadt, Maya; Cadar, Adrian G; Fuller, Daniela T; Fong, Daniel C; Liu, Hanhan; Lease, Robert; Kim, Sungseek; Katagiri, Mikako; Durbin, Matthew D; Wang, Kuo-Chen; Feaster, Tromondae K; Sheng, Calvin C; Neely, M Diana; Sreenivasan, Urmila; Cortes-Gutierrez, Marcia; Finn, Aloke V; Schot, Rachel; Mancini, Grazia M S; Ament, Seth A; Ess, Kevin C; Bowman, Aaron B; Han, Zhe; Bichell, David P; Su, Yan Ru; Hong, Charles C

发表日期：2023

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Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

基因检测指南对先天性心脏病新生儿的护理产生影响

期刊:Journal of Pediatrics

影响因子:3.5

doi:10.1016/j.jpeds.2023.113495

Durbin, Matthew D; Fairman, Korre; Helvaty, Lindsey R; Huang, Manyan; Li, Ming; Abreu, Daniel; Geddes, Gabrielle C; Helm, Benjamin M; Landis, Benjamin J; McEntire, Alexis; Mitchell, Dana K; Ware, Stephanie M

发表日期：2023

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A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

一项针对先天性心脏病患儿的多中心横断面研究表明，基因检测的诊断率很高，但评估方法各不相同。

期刊:Genetics in Medicine Open

doi:10.1016/j.gimo.2023.100814

Durbin, Matthew D; Helvaty, Lindsey R; Li, Ming; Border, William; Fitzgerald-Butt, Sara; Garg, Vidu; Geddes, Gabrielle C; Helm, Benjamin M; Lalani, Seema R; McBride, Kim L; McEntire, Alexis; Mitchell, Dana K; Murali, Chaya N; Wechsler, Stephanie B; Landis, Benjamin J; Ware, Stephanie M

发表日期：2023

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Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease

学习爬行：确定遗传异常对先天性心脏病术后结局的影响

期刊:Journal of the American Heart Association

影响因子:5.3

doi:10.1161/JAHA.122.026369

Landis, Benjamin J; Helm, Benjamin M; Herrmann, Jeremy L; Hoover, Madeline C; Durbin, Matthew D; Elmore, Lindsey R; Huang, Manyan; Johansen, Michael; Li, Ming; Przybylowski, Leon F; Geddes, Gabrielle C; Ware, Stephanie M

发表日期：2022

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