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R

Rachel Robinson

University of Liverpool
H指数:16
被引数:1,326

个人简介

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教育背景

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工作经历

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荣誉奖项

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BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1-、BRCA2-和PALB2相关的范可尼贫血：扩展疾病表型特征并预测杂合子乳腺癌风险的潜力

The American Journal of Human Genetics
IF0
2025-10-300
PRE
Sharon E. Johnatty; Emma Tudini; Michael T. Parsons; Kyriaki Michailidou; Maria Zanti; Daffodil M. Canson; Aimee L. Davidson; Tamar Berger; Rasim Ozgur Rosti; Christian P. Kratz; Reinhard Kalb; Lisa J. McReynolds; Neelam Giri; Marcy E. Richardson; Tina Pesaran; Jordi Surrallés; Roser Pujol; Babu Rao Vundinti; Merin George; Kara N. Maxwell; Kate Nathanson; Susan Domchek; Moisés Ó. Fiesco-Roa; Sara Frias; Benilde García-de-Teresa; Marjolijn Jongmans; Seema Lalani; Merel Maiburg; Katrina Prescott; Rachel Robinson; Sulekha Rajagopalan; Lot Snijders Blok; Suzanna E.L. Temple; Kathy Tucker; Arleen D. Auerbach; Maria I. Cancio; Jennifer A. Kennedy; Margaret L. MacMillan; Rebecca Tryon; John E. Wagner; Michael Walsh; Nicholas J. Boddicker; Chunling Hu; Jeffrey N. Weitzel; Alexander J.M. Dingemans; Johanna Hadler; Nitsan Rotenberg; Lobna Ramadane-Morchadi; Miguel de la Hoya; Paul James; Thomas Van Overeem Hansen; Maaike P.G. Vreeswijk; Logan C. Walker; Shyam K. Sharan; Douglas F. Easton; Fergus Couch; Agata Smogorzewska; Adam Nelson; Joanne Ngeow; Marc Tischkowitz; Encarnacion Gomez-Garcia; Amanda B. Spurdle
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
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
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

研究方向

暂未获取到该数据
G
George J. Burghel
H 指数:20论文数:205被引数:1,819
M
Miranda Durkie
H 指数:15论文数:80被引数:1,070
C
Clare Turnbull
H 指数:68论文数:330被引数:2.2万
H
Helen Hanson
H 指数:44论文数:199被引数:8,943
A
Alice Garrett
H 指数:17论文数:54被引数:2,230
A
Alison Callaway
H 指数:13论文数:40被引数:1,515
M
Marc Tischkowitz
H 指数:89论文数:516被引数:3.4万
A
Andrew J. Wallace
H 指数:47论文数:255被引数:6,848
D
Diana Eccles
H 指数:110论文数:705被引数:5.2万
J
James Drummond
H 指数:14论文数:74被引数:649