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

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms

用于表征和定量变异诱导的 BRCA1 和 BRCA2 剪接异构体的 SeqSplice 多重微基因剪接分析

Canson, Daffodil M; Parsons, Michael T; Moir-Meyer, Gemma; Dumenil, Troy; Montalban, Gemma; Lin, Erica; McVeigh, Terri P; Davidson, Aimee L; Bouckaert, Shaun M; Trau, Matt; Korbie, Darren; Spurdle, Amanda B

UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants

英国针对携带先天性POT1致病变异的患者管理的临床实践指南

Tsoulaki, Olga; Evans, D Gareth; Sinha, Khushboo; Rajan, Neil; Bakr, Farah; Hatcher, Helen; Napolitano, Andrea; Finn, Elena; Iyengar, Sunil; Sohaib, Aslam; Sadler, Timothy J; Forde, Claire; Woodward, Emma Roisin; McVeigh, Terri P; Tischkowitz, Marc; Lalloo, Fiona; Hanson, Helen

Impact of NICE Guideline NG241 'Ovarian Cancer: identifying and managing familial and genetic risk' on a regional NHS family history and clinical genetics service

NICE指南NG241《卵巢癌:识别和管理家族及遗传风险》对区域性NHS家族史和临床遗传服务的影响

Roe, Alexander; Forman, Andrea; Lalloo, Fiona; McVeigh, Terri P; Hanson, Helen; Snape, Katie

Increasing use of artificial intelligence in genomic medicine for cancer care- the promise and potential pitfalls

人工智能在基因组医学癌症治疗中的应用日益广泛——前景与潜在风险

O'Connor, Olivia; McVeigh, Terri P

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification

PS4似然比计算器:变异分类中病例对照数据证据权重的灵活分配

Rowlands, Charlie F; Garrett, Alice; Allen, Sophie; Durkie, Miranda; Burghel, George J; Robinson, Rachel; Callaway, Alison; Field, Joanne; Frugtniet, Bethan; Palmer-Smith, Sheila; Grant, Jonathan; Pagan, Judith; McDevitt, Trudi; McVeigh, Terri P; Hanson, Helen; Whiffin, Nicola; Jones, Michael; Turnbull, Clare

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

针对如何更好地支持基因组变异数据集中整合的实验室工作流程建议:来自 CanVIG-UK 国家分子实验室调查的结果

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

Incidental finding of leukaemia in circulating tumour DNA- the importance of a molecular tumour board

循环肿瘤DNA中偶然发现白血病——分子肿瘤委员会的重要性

Mencel, Justin; Rayarel, Neha; Proszek, Paula; Carter, Paul; Feber, Andy; Popat, Sanjay; McVeigh, Terri P; George, Angela; Dunlop, Alan; Hardy, Katy; Chau, Ian; Cunningham, David; Kohoutova, Darina; Lee, Richard; Iyengar, Sunil; Starling, Naureen

UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

英国关于SDHA种系基因检测和临床实践监测的建议

Hanson, Helen; Durkie, Miranda; Lalloo, Fiona; Izatt, Louise; McVeigh, Terri P; Cook, Jackie A; Brewer, Carole; Drummond, James; Butler, Samantha; Cranston, Treena; Casey, Ruth; Tan, Tricia; Morganstein, Daniel; Eccles, Diana M; Tischkowitz, Marc; Turnbull, Clare; Woodward, Emma Roisin; Maher, Eamonn R

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

1996-2020年英国国民医疗服务体系(NHS)区域分子基因组学实验室的种系错配修复(MMR)基因分析:建立国家级患者级基因组学实验室记录资源

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, Tina; 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

Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer

通过体细胞 DNA 测序检测致死性前列腺癌中的种系 ATM 突变

Rafael Grochot, Suzanne Carreira, Susana Miranda, Ines Figueiredo, Claudia Bertan, Jan Rekowski, Wei Yuan, Ana Ferreira, Ruth Riisnaes, Antje Neeb, Bora Gurel, Maria de Los Dolores Fenor de la Maza, Christina Guo, Juliet Carmichael, Daniel Westaby, Joaquin Mateo, Adam Sharp, Terri P McVeigh, Johann