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

Quantifying lifetime risk for 1,401 infectious diseases across the diabetes spectrum using a Bayesian approach

采用贝叶斯方法量化糖尿病谱系中 1401 种传染病的终生风险

期刊:BMC Medicine
影响因子:8.3
doi:10.1186/s12916-026-04685-3
Olsen, Boomer B; Tristani-Firouzi, Martin; Eilbeck, Karen; Yandell, Mark; Hernandez, Edgar Javier
传染病
糖尿病
代谢
微生物学
传染病
发表日期：2026
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Genetic risk of chronic pain conditions associated with risk of suicide death through an integrative analysis of EHR and genomics data

通过对电子健康记录和基因组数据的综合分析，探讨慢性疼痛疾病的遗传风险与自杀死亡风险之间的关联

期刊:Translational Psychiatry
影响因子:6.2
doi:10.1038/s41398-026-03861-6
Han, Seonggyun; DiBlasi, Emily; Monson, Eric T; Shabalin, Andrey A; Baird, Lisa; Chen, Danli; Lamichhane, Dirga; Tharp, Doug; Ferris, Elliott; Yu, Zhe; Brandon Callor, W; Staley, Michael J; Li, Qingqin S; Willour, Virginia; Crockett, David K; Eilbeck, Karen; Bakian, Amanda V; Keeshin, Brooks R; Okifuji, Akiko; Coon, Hilary; Docherty, Anna R
发表日期：2026
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Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States

新生儿基因筛查（NBS）参与式工作流程分析，旨在支持改进后续随访的工具：比较美国各州血红蛋白病特征的应用案例

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11020040
Taber, Peter; Baysinger, Jennifer; Daniels, Sierra; Diaz-Kincaid, Natalie; Gaviglio, Amy; Ginter, Jacob; Held, Patrice K; Reeves, Emily; Sack, Virginia; Weaver, Jennifer; Eilbeck, Karen
发表日期：2025
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Interaction of genetic variants and methylation in transcript-level expression regulation in Alzheimer's disease by multi-omics data analysis

通过多组学数据分析阿尔茨海默病中遗传变异和甲基化在转录水平表达调控中的相互作用

期刊:BMC Genomics
影响因子:3.7
doi:10.1186/s12864-025-11362-x
Han, Seonggyun; Cho, Soo-Ah; Choi, Wongyung; Eilbeck, Karen; Coon, Hilary; Nho, Kwangsik; Lee, Younghee
信号转导
阿尔茨海默症
表观遗传
发表日期：2025
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Validation of administrative health data for the identification of endometriosis diagnosis

利用行政健康数据验证子宫内膜异位症诊断的有效性

期刊:Human Reproduction
影响因子:
doi:10.1093/humrep/deae281
Kiser, A C; Hemmert, R; Myrer, R; Bucher, B T; Eilbeck, K; Varner, M; Stanford, J B; Peterson, C M; Pollack, A Z; Farland, L V; Schliep, K C
发表日期：2025
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430 Genome-wide meta-analysis identifies novel risk loci for uterine fibroids across multiple ancestry groups

430项全基因组荟萃分析在多个种族群体中发现了子宫肌瘤的新风险位点

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2023.101029
Roberts, Angharad M; DiStefano, Marina T; Riggs, Erin Rooney; Josephs, Katherine S; Alkuraya, Fowzan S; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L; McDonagh, Ellen M; Perrett, Daniel; Ramos, Erin M; Robinson, Peter N; Rath, Ana; Sant, David W; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L; Ware, James S; Kim, Jeewoo; Williams, Ariel; Noh, Hannah; Shuey, Megan M; Edwards, Todd L; Velez Edwards, Digna R; Hellwege, Jacklyn N
发表日期：2024
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An artificial intelligence approach for investigating multifactorial pain-related features of endometriosis

利用人工智能方法研究子宫内膜异位症的多因素疼痛相关特征

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0297998
Kiser, Amber C; Schliep, Karen C; Hernandez, Edgar Javier; Peterson, C Matthew; Yandell, Mark; Eilbeck, Karen
发表日期：2024
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Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes

对自杀死亡案例进行全基因组测序分析，整合脑调控eQTL数据，以识别风险位点和基因。

期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/s41380-023-02282-x
Han, Seonggyun; DiBlasi, Emily; Monson, Eric T; Shabalin, Andrey; Ferris, Elliott; Chen, Danli; Fraser, Alison; Yu, Zhe; Staley, Michael; Callor, W Brandon; Christensen, Erik D; Crockett, David K; Li, Qingqin S; Willour, Virginia; Bakian, Amanda V; Keeshin, Brooks; Docherty, Anna R; Eilbeck, Karen; Coon, Hilary
信号转导
神经科学
发表日期：2023
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Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

迈向稳健的临床基因组解读：建立一套一致的术语体系来描述疾病与基因之间的关系——等位基因需求、遗传模式和疾病机制

期刊:
影响因子:
doi:10.1101/2023.03.30.23287948
Roberts, Angharad M; DiStefano, Marina T; Riggs, Erin Rooney; Josephs, Katherine S; Alkuraya, Fowzan S; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L; McDonagh, Ellen M; Perrett, Daniel; Ramos, Erin M; Robinson, Peter N; Rath, Ana; van Sant, David; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L; Ware, James S
发表日期：2023
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Pain points in parents' interactions with newborn screening systems: a qualitative study

父母与新生儿筛查系统互动中的痛点：一项定性研究

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-022-03160-1
Conway, Mike; Vuong, Truc Thuy; Hart, Kim; Rohrwasser, Andreas; Eilbeck, Karen
发表日期：2022
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