logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
G

George J. Burghel

University of Manchester
H指数:20
被引数:1,808

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Availability of benign missense variant “truthsets” for validation of functional assays: Current status and a systematic approach

良性错义变异“真实集合”在功能测定验证中的可用性：现状与系统方法

The American Journal of Human Genetics
IF0
2025-09-080
PRE
Charlie F. Rowlands; Sophie Allen; Alice Garrett; Miranda Durkie; George J. Burghel; Rachel Robinson; Alison Callaway; Joanne Field; Bethan Frugtniet; Sheila Palmer-Smith; Jonathan Grant; Judith Pagan; Trudi McDevitt; Katie Snape; Helen Hanson; Terri McVeigh; Clare Turnbull
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

量化综合征表型（PP4）特异性证据：大规模整合来自HLRCC（遗传性平滑肌瘤病和肾细胞癌）及肾癌诊断实验室检测的罕见生殖系FH变异

Genetics in Medicine
IF6.2
2025-09-040
OAAI
Sophie Allen; Charlie F. Rowlands; Samantha Butler; Miranda Durkie; Carrie Horton; Tina Pesaran; Marcy Richardson; Rachel Robinson; Alice Garrett; George J. Burghel; Alison Callaway; Joanne Field; Bethan Frugtniet; Sheila Palmer-Smith; Jonathan Grant; Judith Pagan; Trudi McDevitt; Katie Snape; Avgi Andreou; Eamonn R. Maher; Helen Hanson; Terri McVeigh; Clare Turnbull
Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma

全基因组测序鉴定患有双侧肾细胞癌的儿童中的新型生殖细胞延胡索酸水合酶突变

CLINICAL GENETICS
IF2.3
2025-02-040
PRE
Kershaw, Christopher; Demain, Leigh; Baker, Eleanor; Burghel, George; Durkie, Miranda; Forde, Claire; Makin, Guy; Cheesman, Edmund; Warren, Anne; Gokhale, David; Schlecht, Helene; Maher, Eamonn; Oliveira, Pedro; Woodward, Emma
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024)
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-12-221
PRE
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
Association between chemotherapy response score (CRS) and tumour homologous recombination deficiency (tHRD) in women with newly diagnosed FIGO stage IIIC/IV high-grade serous ovarian cancer (HGSOC)

新诊断为FIGO分期IIIC/IV期的高级别浆液性卵巢癌（HGSOC）女性患者中，化疗反应评分（CRS）与肿瘤同源重组缺陷（tHRD）之间的关联。

ANNALS OF ONCOLOGY
IF65.4
2024-09-010
PRE
Britton, F.; Zhou, C.; Burghel, G. J.; Schlecht, H.; Desai, S.; Barnes, B.; Clamp, A. R.; Hasan, J.; Mitchell, C. L.; Salih, Z.; Edmondson, R.; Evans, G. D.; Jayson, G. C.; Taylor, S.; Morgan, R. D.
Testing unselected women with newly diagnosed high-grade serous ovarian cancer (HGSOC) for germline pathogenic variants (PVs) in mismatch repair (MMR) genes is unnecessary

对未经筛选的、新诊断为高级别浆液性卵巢癌（HGSOC）的女性进行错配修复（MMR）基因的胚系致病变异（PVs）检测是不必要的。

ANNALS OF ONCOLOGY
IF65.4
2024-09-010
PRE
Spurgeon, L.; Burghel, G. J.; Schlecht, H.; Clamp, A. R.; Hasan, J.; Mitchell, C. L.; Salih, Z.; Woodward, E. R.; Crosbie, E.; Taylor, S.; Jayson, G. C.; Evans, G. D.; Morgan, R. D.
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-08-290
PRE
Smith, Miriam J.; Perez-Becerril, Cristina; van der Meer, Mwee; Burghel, George J.; Waller, Sarah J.; Carney, Megan; Bunstone, Sancha; Fryer, Katherine; Bowers, Naomi L.; Hartley, Claire L.; Smith, Philip T.; Rutherford, Scott A.; Freeman, Simon R.; Lloyd, Simon K. W.; Pathmanaban, Omar N.; King, Andrew Thomas; Halliday, Dorothy; Duff, Chris; Evans, D. Gareth
NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-06-266
PRE
Forde, Claire; Smith, Miriam J.; Burghel, George J.; Bowers, Naomi; Roberts, Nicola; Lavin, Tim; Halliday, Jane; King, Andrew Thomas; Rutherford, Scott; Pathmanaban, Omar N.; Lloyd, Simon; Freeman, Simon; Halliday, Dorothy; Parry, Allyson; Axon, Patrick; Buttimore, Juliette; Afridi, Shazia; Obholzer, Rupert; Laitt, Roger; Thomas, Owen; Stivaros, Stavros Michael; Vassallo, Grace; Evans, D. Gareth

研究方向

暂未获取到该数据
D
D. Gareth Evans
H 指数:182论文数:2,473被引数:13.4万
E
Emma R. Woodward
H 指数:44论文数:181被引数:7,829
H
Hélene Schlecht
H 指数:12论文数:51被引数:537
A
Andrew J. Wallace
H 指数:47论文数:255被引数:6,833
H
Helen Hanson
H 指数:44论文数:199被引数:8,924
M
Miranda Durkie
H 指数:15论文数:80被引数:1,064
C
Clare Turnbull
H 指数:68论文数:330被引数:2.2万
R
Rachel Robinson
H 指数:16论文数:99被引数:1,321
R
Robert D. Morgan
H 指数:28论文数:189被引数:2,649
F
Fiona Lalloo
H 指数:57论文数:202被引数:1.2万