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

Cancer genomic profiling predicts pathogenicity of BRCA1 and BRCA2 variants

癌症基因组分析预测BRCA1和BRCA2变异的致病性

Kondrashova, Olga; Johnston, Rebecca L; Parsons, Michael T; Davidson, Aimee L; Canson, Daffodil M; Tran, Khoa A; Cline, Melissa S; Waddell, Nicola; Sivakumar, Smruthy; Sokol, Ethan S; Jin, Dexter X; Pavlick, Dean C; Decker, Brennan; Frampton, Garrett M; Spurdle, Amanda B

Multi-tissue expression and splicing data prioritise anatomical subsite- and sex-specific colorectal cancer susceptibility genes

多组织表达和剪接数据优先筛选出解剖亚部位和性别特异性的结直肠癌易感基因

Hazelwood, Emma; Canson, Daffodil M; Deslandes, Benedita; Wang, Xuemin; Kho, Pik Fang; Legge, Danny; Constantinescu, Andrei-Emil; Lee, Matthew A; Bishop, D Timothy; Chan, Andrew T; Gruber, Stephen B; Hampe, Jochen; Le Marchand, Loic; Woods, Michael O; Pai, Rish K; Schmit, Stephanie L; Figueiredo, Jane C; Zheng, Wei; Huyghe, Jeroen R; Murphy, Neil; Gunter, Marc J; Richardson, Tom G; Whitehall, Vicki L J; Vincent, Emma E; Glubb, Dylan M; O'Mara, Tracy A

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

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

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

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

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

对 TP53 微基因 161 个序列变化的分析表明,空间限制和调控元件在变异诱导的剪接影响中发挥着重要作用。

Canson, Daffodil M; Llinares-Burguet, Inés; Fortuno, Cristina; Sanoguera-Miralles, Lara; Bueno-Martínez, Elena; de la Hoya, Miguel; Spurdle, Amanda B; Velasco-Sampedro, Eladio A

Exploring Stakeholder Perspectives on the Barriers and Facilitators of Implementing Digital Technologies for Heart Disease Diagnosis: Qualitative Study

探讨利益相关者对实施数字技术用于心脏病诊断的障碍和促进因素的看法:一项定性研究

Abdullayev, Kamilla; Chico, Tim J A; Canson, Jiana; Mantelow, Matthew; Buckley, Oli; Condell, Joan; Van Arkel, Richard J; Diaz-Zuccarini, Vanessa; Matcham, Faith

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

对 BRCA1、BRCA2 和 PALB2 相关范可尼贫血症的分析表明,可以扩展疾病表型特征并预测杂合子患乳腺癌的风险。

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

Qualitative exploration of the lived experiences of loneliness in later life to inform technology development

对老年人孤独感的真实体验进行定性探索,以指导技术发展

Rees, Jessica; Liu, Wei; Canson, Jiana; Crosby, Lynda; Tinker, Anthea; Probst, Freya; Ourselin, Sebastien; Antonelli, Michela; Molteni, Erika; Mexia, Nikitia; Shi, Yu; Matcham, Faith

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study

全基因组测序在检测癌症易感变异方面的临床应用价值和成本——一项多中心前瞻性队列研究

Davidson, Aimee L; Dressel, Uwe; Norris, Sarah; Canson, Daffodil M; Glubb, Dylan M; Fortuno, Cristina; Hollway, Georgina E; Parsons, Michael T; Vidgen, Miranda E; Holmes, Oliver; Koufariotis, Lambros T; Lakis, Vanessa; Leonard, Conrad; Wood, Scott; Xu, Qinying; McCart Reed, Amy E; Pickett, Hilda A; Al-Shinnag, Mohammad K; Austin, Rachel L; Burke, Jo; Cops, Elisa J; Nichols, Cassandra B; Goodwin, Annabel; Harris, Marion T; Higgins, Megan J; Ip, Emilia L; Kiraly-Borri, Catherine; Lau, Chiyan; Mansour, Julia L; Millward, Michael W; Monnik, Melissa J; Pachter, Nicholas S; Ragunathan, Abiramy; Susman, Rachel D; Townshend, Sharron L; Trainer, Alison H; Troth, Simon L; Tucker, Katherine M; Wallis, Mathew J; Walsh, Maie; Williams, Rachel A; Winship, Ingrid M; Newell, Felicity; Tudini, Emma; Pearson, John V; Poplawski, Nicola K; Mar Fan, Helen G; James, Paul A; Spurdle, Amanda B; Waddell, Nicola; Ward, Robyn L

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

利用 ACMG/AMP 框架收集与预测和观察到的剪接影响相关的证据:ClinGen SVI 剪接小组的建议

Walker, Logan C; Hoya, Miguel de la; Wiggins, George A R; Lindy, Amanda; Vincent, Lisa M; Parsons, Michael T; Canson, Daffodil M; Bis-Brewer, Dana; Cass, Ashley; Tchourbanov, Alexander; Zimmermann, Heather; Byrne, Alicia B; Pesaran, Tina; Karam, Rachid; Harrison, Steven M; Spurdle, Amanda B