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

EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours

EMQN关于实体瘤微卫星不稳定性分析和报告的最佳实践指南

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01913-x
Gallon, Richard; McCormick, Liam; Saetta, Angelica; Albuquerque, Cristina; Butler, Samantha; Cranston, Treena; Field, Joanne; McAnulty, Ciaron; Silva, Patrícia; Cheetham, Melanie; Sheils, Katie; Burghel, George J
发表日期：2026
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Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK)

临床基因组科学协会 (ACGS) 癌症体细胞变异致癌性分类指南：英国体细胞变异解读小组 (SVIG-UK) 的建议

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-111046
Burghel, George J; Mason, Joanne; Baker, Kevin; Moloney, Kate; McKeeve, Claire Holt; Cartwright, Ashley; Brás-Goldberg, Ana M; Travis, Debbie; Lewis, Siân; Fairley, Jennifer A; Williams, Jonathan; Russell, Kirsty; MacMahon, Suzanne; Wragg, Christopher
细胞生物学
肿瘤
肿瘤免疫
发表日期：2026
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Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists

验证来自多重变异效应检测的数据：CanVIG-UK 对 NHS 临床科学家的全国性调查

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.04.006
Allen, Sophie; Garrett, Alice; Rowlands, Charlie F; Durkie, Miranda; Burghel, George J; Robinson, Rachel; Callaway, Alison; Field, Joanne; Frugtniet, Bethan; Palmer-Smith, Sheila; Grant, Jonathan; Pagan, Judith; McDevitt, Trudi; Snape, Katie; Hanson, Helen; McVeigh, Terri; Adams, David J; Findlay, Gregory M; Villani, Rehan M; Spurdle, Amanda B; Turnbull, Clare
发表日期：2025
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Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach

用于验证功能性检测的良性错义变异“真值集”的可用性：现状及系统方法

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.08.014
Rowlands, Charlie F; Allen, Sophie; Garrett, Alice; Durkie, Miranda; Burghel, George J; Robinson, Rachel; Callaway, Alison; Field, Joanne; Frugtniet, Bethan; Palmer-Smith, Sheila; Grant, Jonathan; Pagan, Judith; McDevitt, Trudi; Snape, Katie; Hanson, Helen; McVeigh, Terri; Turnbull, Clare
发表日期：2025
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Clinical Utility of Whole-Genome Sequencing to Aid Histologic Diagnosis and to Direct Personalized Medicine in Salivary Gland Cancer

全基因组测序在辅助组织学诊断和指导唾液腺癌个体化治疗中的临床应用

期刊:Jco Precision Oncology
影响因子:5.6
doi:10.1200/PO-25-00490
Church, Matt; Burghel, George; Betts, Guy; Churchill, Steven Michael; Schlecht, Helene Barbara; Jain, Yatin; Harrington, Kevin; Metcalf, Robert
肿瘤
肿瘤免疫
发表日期：2025
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The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024)

英国国家医疗服务体系（NHS）英格兰犹太人BRCA基因检测计划：实施第一年（2023-2024）后的概况

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2024-110390
Torr, Bethany; Bell, Nicola; McCarthy, Ruth; Hamill, Monica; Nolan, Joshua; Muralidharan, Sudeekshna; Andrews, Charlotte; Valganon-Petrizan, Mikel; Clinch, Yasmin; MacMahon, Suzanne; Morilla, Alison; George, Angela; Ryves, Paul; Dasani, Pooja; Adegoroye, Moses; Schlecht, Helene; Burghel, George J; Ornadel, Wendy; Gordon, Nicole; Steele, Lisa; Lukic, Susana; Watts, Emily; Evans, D Gareth; Manchanda, Ranjit; Turnbull, Clare
发表日期：2025
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Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice

英国肿瘤学实践中通过肿瘤基因组检测发现的疑似种系变异的分类框架建议

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-110947
McVeigh, Terri Patricia; Hanson, Helen; Burghel, George J; Turnbull, Clare; Snape, Katie
肿瘤
肿瘤免疫
发表日期：2025
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Phenotypic Variability and Hematological Characterization of β(0)- and β(+)-Thalassemia Carriers: A Comparative Study

β(0)-和β(+)-地中海贫血携带者的表型变异性和血液学特征：一项比较研究

期刊:Journal of Clinical Medicine Research-Canada
影响因子:2
doi:10.14740/jocmr6213
Tibi, Ahmad Al; Hasan, Diya; Al-Sanabra, Ola M; Mansour, Ghaith H; Shawagfeh, Maissa T; Alqaraleh, Moath; AlRamadneh, Tareq Nayef; Al-Khreisat, Mutaz Jamal; Burghel, George J; Abdelnour, Amid
代谢
贫血
发表日期：2025
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Racial disparities in ovarian cancer survival transcend the somatic mutational landscape

卵巢癌生存率的种族差异超越了体细胞突变图谱的范畴。

期刊:Translational Cancer Research
影响因子:1.7
doi:10.21037/tcr-2025-2112
Morgan, Robert D; Burghel, George J
细胞生物学
肿瘤
肿瘤免疫
卵巢癌
发表日期：2025
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A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report

一种与戈林综合征相关的新型PTCH1非典型剪接区变异：病例报告

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000545453
Smith, Miriam J; Shell, Emily-Jayne; Burghel, George J; Carney, Megan; Waller, Sarah J; Hakim, Alan; Evans, D Gareth
发表日期：2025
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