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

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

测序验证了基于电子病历的深度学习模型在儿科患者努南综合征检测中的有效性

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00512-5
Yang, Zeyu; Shikany, Amy; Husami, Ammar; Wang, Xinjian; Mendonca, Eneida; Nicole Weaver, K; Chen, Jing
发表日期：2025
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Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center

心脏遗传咨询服务：探索儿科医疗中心的下游收入

期刊:Journal of Genetic Counseling
影响因子:1.9
doi:10.1002/jgc4.1984
Olson, Marianne; Anderson, Jeffrey; Knapke, Sara; Kushner, Adam; Martin, Lisa; Statile, Christopher; Shikany, Amy; Miller, Erin M
发表日期：2025
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Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

对哈迪卡综合征的表型谱和发病机制的新见解

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2024.101222
Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon
发表日期：2024
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Genetic investigation and diagnosis in adults with congenital heart disease with or without structural or neurodevelopmental comorbidity: a retrospective chart review

对伴或不伴结构性或神经发育性合并症的成人先天性心脏病患者进行基因检测和诊断：一项回顾性病历分析

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1412806
Edwards, Moriah; Zhang, Xue; Opotowsky, Alexander R; Brown, Nicole; Shikany, Amy R; Weaver, Kathryn Nicole
心脏病
发育与干细胞
心血管
神经科学
发表日期：2024
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Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease

目前针对先天性心脏病成人患者的基因检测和基因评估转诊方法

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1398887
Oehlman, Laura B; Opotowsky, Alexander R; Weaver, Kathryn N; Brown, Nicole M; Barnett, Cara L; Miller, Erin M; He, Hua; Shikany, Amy R
心脏病
心血管
发表日期：2024
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Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis

肺动脉瓣狭窄患者队列中基因诊断的患病率

期刊:Circulation-Genomic and Precision Medicine
影响因子:5.5
doi:10.1161/CIRCGEN.121.003635
Weaver, K Nicole; Chen, Jing; Shikany, Amy; White, Pete S; Prada, Carlos E; Gelb, Bruce D; Cnota, James F
发表日期：2022
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A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy

婴儿期危重先天性心脏病的综合临床遗传学方法

期刊:Journal of Pediatrics
影响因子:3.5
doi:10.1016/j.jpeds.2020.07.065
Shikany, Amy R; Landis, Benjamin J; Parrott, Ashley; Miller, Erin M; Coyan, Alyxis; Walters, Lauren; Hinton, Robert B; Goldenberg, Paula; Ware, Stephanie M
心脏病
心血管
发表日期：2020
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Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity

外显子组测序鉴定出综合征型和家族性胸主动脉瘤严重程度的候选遗传修饰因子

期刊:Journal of Cardiovascular Translational Research
影响因子:2.5
doi:10.1007/s12265-017-9753-1
Landis, Benjamin J; Schubert, Jeffrey A; Lai, Dongbing; Jegga, Anil G; Shikany, Amy R; Foroud, Tatiana; Ware, Stephanie M; Hinton, Robert B
心血管
动脉瘤
发表日期：2017
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Genetic Testing in Pediatric Left Ventricular Noncompaction

儿童左心室致密化不全的基因检测

期刊:Circulation-Cardiovascular Genetics
影响因子:
doi:10.1161/CIRCGENETICS.117.001735
Miller, Erin M; Hinton, Robert B; Czosek, Richard; Lorts, Angela; Parrott, Ashley; Shikany, Amy R; Ittenbach, Richard F; Ware, Stephanie M
发表日期：2017
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