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S

Sophie Allen

The Institute of Cancer Research
H指数:10
被引数:383

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Routine germline genetic testing in 3552 unselected NHS breast cancer patients: evidence informing testing criteria and implementation of a ‘BRCA-DIRECT’ mainstreaming pathway

对3552例未经选择的NHS乳腺癌患者进行常规生殖系遗传检测：为检测标准提供证据并实施“BRCA-DIRECT”常规化路径

npj Breast Cancer
IF7.6
2026-07-090
OA
Bethany Torr; Lea Mansour; Caitlin T. Fierheller; Monica Hamill; Joshua Nolan; Nicola Bell; Subin Choi; Sophie Allen; Sudeekshna Muralidharan; Suzanne MacMahon; Yasmin Clinch; Mikel Valganon-Petrizan; Helena Harder; Alice Garrett; D. Gareth Evans; Angela George; Valerie Jenkins; Lesley Fallowfield; Rosa Legood; Zoe Kemp; Ranjit Manchanda; Clare Turnbull
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
Long-term health outcomes of bilateral salpingo-oophorectomy in BRCA1 and BRCA2 pathogenic variant carriers with personal history of breast cancer: a retrospective cohort study using linked electronic health records

BRCA1和BRCA2致病性变异携带者中，有乳腺癌病史者行双侧输卵管卵巢切除术的长期健康结局：一项基于关联电子健康记录的回顾性队列研究

lancet oncology
IF0
2025-05-080
OA
Hend Hassan; Isaac Allen; Tameera Rahman; Sophie Allen; Craig Knott; Catherine Huntley; Lucy Loong; Alice Garrett; Yvonne Walburga; Eva Morris; Steven Hardy; Bethany Torr; Fiona McRonald; Sally Vernon; Margreet Lüchtenborg; Joanna Pethick; Francesco Santaniello; Shilpi Goel; Diana M Eccles; Clare Turnbull; Marc Tischkowitz; Paul Pharoah; Antonis C Antoniou
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study

子宫内膜癌的Lynch综合征诊断测试途径: 一项基于全国英语注册的研究

JOURNAL OF MEDICAL GENETICS
IF3.7
2024-10-210
OAAI
Loong, Lucy; Huntley, Catherine; Pethick, Joanna; Mcronald, Fiona; Santaniello, Francesco; Shand, Brian; Tulloch, Oliver; Goel, Shilpi; Luechtenborg, Margreet; Allen, Sophie; Torr, Bethany; Snape, Katie; George, Angela; Lalloo, Fiona; Norbury, Gail; Eccles, Diana M.; Tischkowitz, Marc; Antoniou, Antonis C.; Pharoah, Paul; Shaw, Adam; Morris, Eva; Burn, John; Monahan, Kevin; Hardy, Steven; Turnbull, Clare
BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

BRCA-英国乳腺肿瘤学环境中诊断性种系基因检测的直接数字途径: 一项随机，非劣效性试验

BRITISH JOURNAL OF CANCER
IF6.8
2024-10-011
OA
Torr, Bethany; Jones, Christopher; Kavanaugh, Grace; Hamill, Monica; Allen, Sophie; Choi, Subin; Garrett, Alice; Valganon-Petrizan, Mikel; MacMahon, Suzanne; Yuan, Lina; Way, Rosalind; Harder, Helena; Gold, Rochelle; Taylor, Amy; Gabe, Rhian; Lucassen, Anneke; Manchanda, Ranjit; Fallowfield, Lesley; Jenkins, Valerie; Gandhi, Ashu; Evans, D. Gareth; George, Angela; Hubank, Michael; Kemp, Zoe; Bremner, Stephen; Turnbull, Clare
Second primary cancer risks following breast cancer in BRCA1/2 pathogenic variant carriers
CANCER RESEARCH
IF16.6
2024-03-220
PRE
Allen, Isaac; Hassan, Hend; Walburga, Yvonne; Huntley, Catherine; Loong, Lucy; Rahman, Tameera; Torr, Beth; Bacon, Andrew; Knott, Craig; Jose, Sophie; Vernon, Sally; Luchtenborg, Margreet; Pethick, Joanna; Santaniello, Francesco; Goel, Shilpi; Allen, Sophie; Lavelle, Katrina; McRonald, Fiona; Eccles, Diana M.; Morris, Eva; Hardy, Steven; Turnbull, Clare; Tischkowitz, Marc; Pharoah, Paul; Antoniou, Antonis C.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-12-221
OAAI
Allen, Sophie; Loong, Lucy; Garrett, Alice; Torr, Bethany; Durkie, Miranda; Drummond, James; Callaway, Alison; Robinson, Rachel; Burghel, George J.; Hanson, Helen; Field, Joanne; McDevitt, Trudi; McVeigh, Terri P.; Bedenham, Tina; Bowles, Christopher; Bradshaw, Kirsty; Brooks, Claire; Butler, Samantha; Del Rey Jimenez, Juan Carlos; Hawkes, Lorraine; Stinton, Victoria; MacMahon, Suzanne; Owens, Martina; Palmer-Smith, Sheila; Smith, Kenneth; Tellez, James; Valganon-Petrizan, Mikel; Waskiewicz, Erik; Yau, Michael; Eccles, Diana M.; Tischkowitz, Marc; Goel, Shilpi; McRonald, Fiona; Antoniou, Antonis C.; Morris, Eva; Hardy, Steven; Turnbull, Clare
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

来自英国NHS区域分子基因组学实验室的种系错配修复 (MMR) 基因分析1996-2020: 患者水平基因组学实验室记录的国家资源的开发

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-12-267
OAAI
Loong, Lucy; Huntley, Catherine; McRonald, Fiona; Santaniello, Francesco; Pethick, Joanna; Torr, Bethany; Allen, Sophie; Tulloch, Oliver; Goel, Shilpi; Shand, Brian; Rahman, Tameera; Luchtenborg, Margreet; Garrett, Alice; Barber, Richard; Bedenham, Tin; Bourn, David; Bradshaw, Kirsty; Brooks, Claire; Bruty, Jonathan; Burghel, George J.; Butler, Samantha; Buxton, Chris; Callaway, Alison; Callaway, Jonathan; Drummond, James; Durkie, Miranda; Field, Joanne; Jenkins, Lucy; McVeigh, Terri P.; Mountford, Roger; Nyanhete, Rodney; Petrides, Evgenia; Robinson, Rachel; Scott, Tracy; Stinton, Victoria; Tellez, James; Wallace, Andrew J.; Yarram-Smith, Laura; Sahan, Kate; Hallowell, Nina; Eccles, Diana M.; Pharoah, Paul; Tischkowitz, Marc; Antoniou, Antonis C.; Evans, D. Gareth; Lalloo, Fiona; Norbury, Gail; Morris, Eva; Burn, John; Hardy, Steven; Turnbull, Clare
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

英国关于癌症易感基因种系致病变异女性癌症风险临床管理的共识建议: RAD51C，RAD51D，BRIP1和PALB2

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-11-2125
OAAI
Hanson, Helen; Kulkarni, Anjana; Loong, Lucy; Kavanaugh, Grace; Torr, Bethany; Allen, Sophie; Ahmed, Munaza; Antoniou, Antonis C.; Cleaver, Ruth; Dabir, Tabib; Evans, D. Gareth; Golightly, Ellen; Jewell, Rosalyn; Kohut, Kelly; Manchanda, Ranjit; Murray, Alex; Murray, Jennie; Ong, Kai-Ren; Rosenthal, Adam N.; Woodward, Emma Roisin; Eccles, Diana M.; Turnbull, Clare; Tischkowitz, Marc; Lalloo, Fiona
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
GENETICS IN MEDICINE
IF6.2
2022-09-0117
OAAI
Loong, Lucy; Garrett, Alice; Allen, Sophie; Choi, Subin; Durkie, Miranda; Callaway, Alison; Drummond, James; Burghel, George J.; Robinson, Rachel; Torr, Beth; Berry, Ian R.; Wallace, Andrew J.; Eccles, Diana M.; Ellard, Sian; Baple, Emma; Evans, D. Gareth; Woodward, Emma R.; Kulkarni, Anjana; Lalloo, Fiona; Tischkowitz, Marc; Lucassen, Anneke; Hanson, Helen; Turnbull, Clare
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

英国NHS癌症患者基因检测的数字途径: brca-direct随机研究内部试点

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-07-2222
OAAI
Torr, Bethany; Jones, Christopher; Choi, Subin; Allen, Sophie; Kavanaugh, Grace; Hamill, Monica; Garrett, Alice; MacMahon, Suzanne; Loong, Lucy; Reay, Alistair; Yuan, Lina; Petrizan, Mikel Valganon; Monson, Kathryn; Perry, Nicky; Fallowfield, Lesley; Jenkins, Valerie; Gold, Rochelle; Taylor, Amy; Gabe, Rhian; Wiggins, Jennifer; Lucassen, Anneke; Manchanda, Ranjit; Gandhi, Ashu; George, Angela; Hubank, Michael; Kemp, Zoe; Evans, D. Gareth; Bremner, Stephen; Turnbull, Clare
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
GENETICS IN MEDICINE
IF6.2
2022-03-016
OAAI
Loong, Lucy; Cubuk, Cankut; Choi, Subin; Allen, Sophie; Torr, Beth; Garrett, Alice; Loveday, Chey; Durkie, Miranda; Callaway, Alison; Burghel, George J.; Drummond, James; Robinson, Rachel; Berry, Ian R.; Wallace, Andrew; Eccles, Diana M.; Tischkowitz, Marc; Ellard, Sian; Ware, James S.; Hanson, Helen; Turnbull, Clare

研究方向

暂未获取到该数据
C
Clare Turnbull
H 指数:68论文数:330被引数:2.2万
A
Alice Garrett
H 指数:17论文数:54被引数:2,232
M
Marc Tischkowitz
H 指数:89论文数:516被引数:3.4万
H
Helen Hanson
H 指数:44论文数:199被引数:8,949
L
Lucy Loong
H 指数:11论文数:43被引数:372
B
Bethany Torr
H 指数:11论文数:42被引数:1,515
D
D. Gareth Evans
H 指数:182论文数:2,473被引数:13.4万
G
George J. Burghel
H 指数:20论文数:205被引数:1,821
D
Diana Eccles
H 指数:110论文数:705被引数:5.2万
R
Rachel Robinson
H 指数:16论文数:99被引数:1,328