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

Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins

多组学分析揭示单绒毛膜双胞胎多发性绒毛膜血管瘤综合征的多步骤病理过程

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-026-04228-2
Wilk, Brandon M; Gajapathy, Manavalan; Brown, Donna M; Duncan, Virginia E; Worthey, Elizabeth A
发表日期：2026
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The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis

囊性纤维化患儿中HFE基因变异的频率及其潜在影响

期刊:Pediatric Pulmonology
影响因子:2.3
doi:10.1002/ppul.71042
Huang, Leslie; Lai, HuiChuan J; Furuya, Katryn N; Antos, Nicholas J; Asfour, Fadi; Boyne, Kathleen L; Howenstine, Michelle; Rock, Michael J; Sawicki, Gregory S; Gaffin, Jonathan M; Worthey, Elizabeth A; Farrell, Philip M
发表日期：2025
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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

FAM177A1 是一种定位于高尔基体的蛋白质，其功能丧失会导致一种新的神经发育障碍

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2024.101166
Kohler Jennefer N, Legro Nicole R, Baldridge Dustin, Shin Jimann, Bowman Angela, Ugur Berrak, Jackstadt Madelyn M, Shriver Leah P, Patti Gary J, Zhang Bo, Feng Wenjia, McAdow Anthony R, Goddard Pagé, Ungar Rachel A, Jensen Tanner, Smith Kevin S, Fresard Laure, Alvarez Raquel, Bonner Devon, Reuter Chloe M, McCormack Colleen, Kravets Elijah, Marwaha Shruti, Holt James M, Worthey Elizabeth A, Ashley Euan A, Montgomery Stephen B, Fisher Paul G, Postlethwait John, De Camilli Pietro, Solnica-Krezel Lila, Bernstein Jonathan A, Wheeler Matthew T
神经科学
发表日期：2024
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Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis

囊性纤维化成人患者的维生素D水平以及对补充剂的不同反应部分取决于遗传因素。

期刊:Journal of Cystic Fibrosis
影响因子:6
doi:10.1016/j.jcf.2024.02.005
Braun, Andrew T; Lai, HuiChuan J; Laxova, Anita; Biller, Julie A; Hubertz, Erin K; Zhao, Zijie; Lu, Qiongshi; Murali, Sangita; Brown, Donna M; Worthey, Elizabeth A; Farrell, Philip M
发表日期：2024
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Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis

内在和外在危险因素对囊性纤维化早期肺部疾病的影响

期刊:Pediatric Pulmonology
影响因子:2.3
doi:10.1002/ppul.26625
Huang, Leslie; Lai, HuiChuan J; Song, Jie; Zhao, Zijie; Lu, Qiongshi; Murali, Sangita G; Brown, Donna M; Worthey, Elizabeth A; Farrell, Philip M
发表日期：2023
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DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants

DOCK病：与人类DOCK致病变异相关的临床病理的系统性综述

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.24398
Samani, Adrienne; English, Katherine G; Lopez, Michael A; Birch, Camille L; Brown, Donna M; Kaur, Gurpreet; Worthey, Elizabeth A; Alexander, Matthew S
发表日期：2022
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Development of An Individualized Risk Prediction Model for COVID-19 Using Electronic Health Record Data

利用电子健康记录数据开发针对新冠肺炎的个体化风险预测模型

期刊:Frontiers in Big Data
影响因子:2.3
doi:10.3389/fdata.2021.675882
Mamidi, Tarun Karthik Kumar; Tran-Nguyen, Thi K; Melvin, Ryan L; Worthey, Elizabeth A
肺炎
新冠
微生物学
发表日期：2021
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Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

针对生殖系疾病诊断的临床全基因组测序分析验证的最佳实践

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-020-00154-9
Marshall, Christian R; Chowdhury, Shimul; Taft, Ryan J; Lebo, Mathew S; Buchan, Jillian G; Harrison, Steven M; Rowsey, Ross; Klee, Eric W; Liu, Pengfei; Worthey, Elizabeth A; Jobanputra, Vaidehi; Dimmock, David; Kearney, Hutton M; Bick, David; Kulkarni, Shashikant; Taylor, Stacie L; Belmont, John W; Stavropoulos, Dimitri J; Lennon, Niall J
发表日期：2020
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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

一套用于遗传学服务提供者对非诊断性外显子组测序患者进行随访的工具包

期刊:Journal of Genetic Counseling
影响因子:1.9
doi:10.1002/jgc4.1119
Zastrow, Diane B; Kohler, Jennefer N; Bonner, Devon; Reuter, Chloe M; Fernandez, Liliana; Grove, Megan E; Fisk, Dianna G; Yang, Yaping; Eng, Christine M; Ward, Patricia A; Bick, David; Worthey, Elizabeth A; Fisher, Paul G; Ashley, Euan A; Bernstein, Jonathan A; Wheeler, Matthew T
发表日期：2019
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Genome sequencing in the clinic: the past, present, and future of genomic medicine

基因组测序在临床中的应用：基因组医学的过去、现在和未来

期刊:Physiological Genomics
影响因子:2.5
doi:10.1152/physiolgenomics.00046.2018
Prokop, Jeremy W; May, Thomas; Strong, Kim; Bilinovich, Stephanie M; Bupp, Caleb; Rajasekaran, Surender; Worthey, Elizabeth A; Lazar, Jozef
发表日期：2018
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