Shirts Brian H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

Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical Trial

基层医疗诊所中评估遗传性癌症风险的策略：一项整群随机临床试验

期刊:Jama Network Open

影响因子:9.7

doi:10.1001/jamanetworkopen.2025.0185

Swisher, Elizabeth M; Harris, Heather M; Knerr, Sarah; Theoryn, Tesla N; Norquist, Barbara M; Brant, Jeannine; Shirts, Brian H; Beers, Faith; Cameron, DaLaina; Dusic, Emerson J; Riemann, Laurie A; Devine, Beth; Raff, Michael L; Kadel, Rabindra; Cabral, Howard J; Wang, Catharine

发表日期：2025

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Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性，从而释放其在变异解读方面的潜力

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2025.04.009

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Villani, Rehan M; Spurdle, Amanda B; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B

发表日期：2025

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Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications

精准医学：报告意义未明变异（VUS）及其重新分类方面的系统性缺陷

期刊:Genetics in Medicine

影响因子:6.2

doi:10.1016/j.gim.2025.101501

Folta, Andrew; Sedeño Cortés, Adriana E; Gupta, Pankhuri; McEwen, Abbye E; Kao, Eric Y; Horike-Pyne, Martha; Stone, Jeremy; Shirts, Brian H; Dubard-Gault, Marianne E; Fowler, Douglas M; Starita, Lea M; Hisama, Fuki M; Stergachis, Andrew B

发表日期：2025

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Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms

长读长DNA和RNA测序在遗传性息肉病和结直肠癌中的应用：隐蔽的内含子变异和多种突变机制

期刊:Journal of Medical Genetics

影响因子:3.7

doi:10.1136/jmg-2025-110851

Jacobson, Angela L; AbuRayyan, Amal; Gulsuner, Suleyman; Slater, Haley; Anasiz, Yagiz; Ahmad, Sirajummuneer M; Lee, Ming K; Mandell, Jessica; Rettner, Emily J; Konnick, Eric Q; Pritchard, Colin; King, Mary-Claire; Walsh, Tom; Shirts, Brian H

发表日期：2025

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Cost-effectiveness of primary care-based risk assessment and hereditary cancer genetic testing

基于初级保健的风险评估和遗传性癌症基因检测的成本效益分析

期刊:BMC Primary Care

影响因子:2.6

doi:10.1186/s12875-025-03137-w

Devine, Beth; Aalbers, Sanne E; Chan, HuiHsuan; Jiang, Shangqing; Dusic, Emerson J; Knerr, Sarah; Harris, Heather M; Wang, Catharine; Norquist, Barbara M; Riemann, Laurie A; Brant, Jeannine M; Shirts, Brian H; Swisher, Elizabeth M

发表日期：2025

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Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性，从而释放其在变异解读方面的潜力

doi:10.1101/2025.01.25.25321117

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B

发表日期：2025

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Primary care provider practices, attitudes, and confidence with hereditary cancer risk assessment and testing: A mixed methods study

初级保健提供者在遗传性癌症风险评估和检测方面的实践、态度和信心：一项混合方法研究

期刊:Genetics in Medicine

doi:10.1016/j.gim.2024.101307

Conner, Sarah; Theoryn, Tesla; Dusic, Emerson; Beers, Faith; Knerr, Sarah; Norquist, Barbara; Shirts, Brian H; Bowen, Deborah; Swisher, Elizabeth M; Wang, Catharine

发表日期：2025

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ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

ClinGen关于使用PP1/BS4共分离和PP4表型特异性标准进行序列变异致病性分类的指南

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2023.11.009

Biesecker, Leslie G; Byrne, Alicia B; Harrison, Steven M; Pesaran, Tina; Schäffer, Alejandro A; Shirts, Brian H; Tavtigian, Sean V; Rehm, Heidi L

发表日期：2024

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Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients

在未筛选的患者中，成人发病遗传性疾病的基因检测结果无参考价值后，患者的风险认知和预期行为改变。

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-023-01460-3

Rao, Nandana D; King, Kristine M; Kaganovsky, Jailanie; Hassan, Sajida; Tsinajinne, Darwin; Fullerton, Stephanie M; Chen, Annie T; Veenstra, David L; Shirts, Brian H

发表日期：2024

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Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect

实事求是：信息含量评分用于衡量多重变异效应检测的临床价值

期刊:BMC Bioinformatics

影响因子:3.3

doi:10.1186/s12859-024-05920-5

Ranola, John Michael O; Horton, Carolyn; Pesaran, Tina; Fayer, Shawn; Starita, Lea M; Shirts, Brian H

发表日期：2024

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