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C

Clare Turnbull

Institute of Cancer Research
H指数:68
被引数:2.2万

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荣誉奖项

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Exome-wide analysis of rare deleterious variants in 3,569 sarcoma cases and 21,788 controls from multiple international data sources reveals no novel susceptibility genes

对来自多个国际数据源的3,569例肉瘤病例和21,788例对照的基因组外显子范围分析，未发现新的易感基因

Genetics in Medicine
IF6.2
2026-10-210
OAAI
Alice Garrett; Zeid Kuzbari; Isaac Wade; Chey Loveday; Charlie Rowlands; Adrian Larkeryd; Sophie Allen; Swetansu Pattnaik; Piyush Mundra; Adrienne Flannagan; Ian Tomlinson; Mandy Ballinger; Philip J. Lupo; Douglas R. Stewart; David Thomas; Clare Turnbull
Randomised phase III trials of cancer prevention drugs: a systematic review and prediction of trial success☆

癌症预防药物的随机III期临床试验：一项系统综述和试验成功的预测<a class="anchor anchor-primary" href="#fn1" name="bfn1" data-sd-ui-side-panel-opener="true" data-xocs-content-type="reference" data-xocs-content-id="fn1"><span class="anchor-text-container"><span class="anchor-text"><sup>☆</sup></span></span></a>

ESMO Open
IF8.3
2026-09-090
OAAI
A. Xu-Vuillard; B. Duso; B. Arun; J. Balmana; A. De Censi; N. Iyengar; N. Pashayan; C. Yu; D. Munoz-Espin; R. Fitzgerald; B. Ma; G. Kapetanakis; C. Turnbull; S. Halabi; S. Delaloge
The Impact of Expanded Access to Germline High Penetrance Genetic Testing for Women With a New Diagnosis of Invasive Breast Cancer or High-Grade DCIS

为患有新诊断浸润性乳腺癌或高级别DCIS的女性扩展对高外显率生殖系基因检测的访问权限的影响

Clinical Breast Cancer
IF2.5
2026-08-010
PRE
Hudson-Phillips, Sarah P.; Nanda, Akriti; Attia, Mohamed; Al Yaqout, Wadha; Marshall, Evelyn; Rusby, Jennifer E.; Krupa, Katherine; Barry, Peter A.; Tasoulis, Marios Konstantinos; Gui, Gerald; Merh, Radhika; Torr, Bethany; Kemp, Zoe; George, Angela; Turnbull, Clare; O'Connell, Rachel L.
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
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异整理指南中关于体细胞PALB2序列变异分析的规定

american journal of human genetics
IF0
2025-09-170
OAAI
Marcy E. Richardson; Megan F.H. Bishop; Megan A. Holdren; Miguel de la Hoya; Amanda B. Spurdle; Sean V. Tavtigian; Terra Brannan; Colin C. Young; Lauren Zec; Susan Hiraki; Clare Turnbull; Marc Tischkowitz; Kara A. Bernstein; Jean-Yves Masson; Shannon M. McNulty; Tina Pesaran; Alvaro N. Monteiro; Logan C. Walker; William D. Foulkes; Fergus J. Couch
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
Breast cancer germline multigene panel testing in mainstream oncology based on clinical–public health utility: ESMO Precision Oncology Working Group recommendations

基于临床-公共卫生效用的主流肿瘤学中乳腺癌胚系多基因-panel检测：ESMO精准肿瘤学工作组建议

Annals of Oncology
IF65.4
2025-06-150
PREAI
C. Turnbull; M.I. Achatz; J. Balmaña; E. Castro; G. Curigliano; C. Cybulski; S.M. Domchek; D.G. Evans; H. Hanson; N. Hoogerbrugge; P.A. James; A. Krause; K.L. Nathanson; J. Ngeow Yuen Yie; M. Robson; M. Tischkowitz; B. Westphalen; W.D. Foulkes
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
Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models

1435例睾丸生殖细胞肿瘤种系全外显子测序的Meta分析，以评估显性，隐性和X连锁遗传模型下的破坏性突变

EUROPEAN UROLOGY OPEN SCIENCE
IF4.5
2025-03-010
OAAI
Kuzbari, Zeid; Rowlands, Charlie F.; Wade, Isaac; Garrett, Alice; Loveday, Chey; Choi, Subin; Torr, Beth; Litchfield, Kevin; Reid, Alison; Huddart, Robert; Broderick, Peter; Houlston, Richard S.; Turnbull, Clare
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study

通过全转录组关联研究鉴定与睾丸生殖细胞肿瘤易感性相关的基因

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-010
OAAI
Ugalde-Morales, Emilio; Wilf, Rona; Pluta, John; Ploner, Alexander; Fan, Mengyao; Damra, Mohammad; Aben, Katja K.; Anson-Cartwright, Lynn; Chen, Chu; Cortessis, Victoria K.; Daneshmand, Siamak; Ferlin, Alberto; Gamulin, Marija; Gietema, Jourik A.; Gonzalez-Niera, Anna; Grotmol, Tom; Hamilton, Robert J.; Harland, Mark; Haugen, Trine B.; Hauser, Russ; Hildebrandt, Michelle A. T.; Karlsson, Robert; Kiemeney, Lambertus A.; Kim, Jung; Lessel, Davor; Lothe, Ragnhild A.; Loveday, Chey; Chanock, Stephen J.; Mcglynn, Katherine A.; Meijer, Coby; Nead, Kevin T.; Nsengimana, Jeremie; Popovic, Maja; Rafnar, Thorunn; Richiardi, Lorenzo; Rocca, Maria S.; Schwartz, Stephen M.; Skotheim, Rolf I.; Stefansson, Kari; Stewart, Douglas R.; Turnbull, Clare; Vaughn, David J.; Winge, Sofia B.; Zheng, Tongzhang; Monteiro, Alvaro N.; Almstrup, Kristian; Kanetsky, Peter A.; Nathanson, Katherine L.; Wiklund, Fredrik
Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

使用癌症表型性别特异性来实现对卵巢小细胞癌，高钙血症型 (SCCOHT) 的SMARCA4致病变体的无偏外显率估计

GENETICS IN MEDICINE
IF6.2
2025-01-010
PRE
Wade, Isaac; Witkowski, Leora; Ahmed, Afrida; Rowlands, Charlie F.; Banerjee, Susana; Pressey, Joseph G.; Mcveigh, Terri P.; Tischkowitz, Marc D.; Foulkes, William D.; Turnbull, Clare
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

用于分析种系ATM序列变体的ACMG/AMP变体管理指南的规范

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-11-010
OAAI
Richardson, Marcy E.; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B.; V. Tavtigian, Sean; Young, Colin C.; Zec, Lauren; Hiraki, Susan; Anderson, Michael J.; Walker, Logan C.; Mcnulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D.; Cline, Melissa; Monteiro, Alvaro N.; Pesaran, Tina; Couch, Fergus J.
ESMO Recommendations on clinical reporting of genomic test results for solid cancers

ESMO关于实体癌基因组检测结果临床报告的建议

ANNALS OF ONCOLOGY
IF65.4
2024-11-010
OAAI
van de Haar, J.; Roepman, P.; Andre, F.; Balmana, J.; Castro, E.; Chakravarty, D.; Curigliano, G.; Czarnecka, A. M.; Dienstmann, R.; Horak, P.; Marchio, C.; Italiano, A.; Monkhorst, K.; Pritchard, C. C.; Reardon, B.; Russnes, H. E. G.; Sirohi, B.; Sosinsky, A.; Spanic, T.; Turnbull, C.; Van Allen, E.; Westphalen, C. B.; Tamborero, D.; Mateo, J.
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
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-09-0112
OAAI
Parsons, Michael T.; de la Hoya, Miguel; Richardson, Marcy E.; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M.; Chan, Raymond C.; Cline, Melissa S.; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; San Leong, Huei; Martins, Alexandra; Mensenkamp, Arjen R.; Monteiro, Alvaro N.; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A.; Toland, Amanda E.; Turnbull, Clare; Vogel, Maartje J.; Weyandt, Jamie; Wiggins, George A. R.; Zec, Lauren; Couch, Fergus J.; Walker, Logan C.; Vreeswijk, Maaike P. G.; Goldgar, David E.; Spurdle, Amanda B.
Saturation genome editing of BAP1 functionally classifies somatic and germline variants
NATURE GENETICS
IF31.8
2024-07-050
OA
Waters, Andrew J.; Brendler-Spaeth, Timothy; Smith, Danielle; Offord, Victoria; Tan, Hong Kee; Zhao, Yajie; Obolenski, Sofia; Nielsen, Maartje; van Doorn, Remco; Murphy, Jo-Ellen; Gupta, Prashant; Rowlands, Charlie F.; Hanson, Helen; Delage, Erwan; Thomas, Mark; Radford, Elizabeth J.; Gerety, Sebastian S.; Turnbull, Clare; Perry, John R. B.; Hurles, Matthew E.; Adams, David J.

研究方向

暂未获取到该数据
N
Nazneen Rahman
H 指数:98论文数:404被引数:7.4万
R
Richard S. Houlston
H 指数:120论文数:1,252被引数:6.1万
D
Diana Eccles
H 指数:110论文数:705被引数:5.2万
M
Marc Tischkowitz
H 指数:89论文数:516被引数:3.4万
P
Paul D.P. Pharoah
H 指数:150论文数:1,771被引数:9.7万
H
Helen Hanson
H 指数:44论文数:199被引数:8,948
D
D. Gareth Evans
H 指数:182论文数:2,473被引数:13.4万
A
Antonis C. Antoniou
H 指数:91论文数:543被引数:4.0万
C
Chey Loveday
H 指数:28论文数:74被引数:5,173
D
Douglas F. Easton
H 指数:177论文数:1,184被引数:13.7万