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

Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent)

患者对医务人员在征得患者同意后直接联系其亲属告知遗传风险的看法

Tiller, Jane; Finlay, Keri; Madelli, Evanthia O; Monnik, Melissa; Jackson, Matilda R; Poplawski, Nicola; Boughtwood, Tiffany; Nowak, Kristen J; Otlowski, Margaret

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing

利用埃克塞特青年起病型糖尿病 (MODY) 概率计算器和新一代测序基因panel检测,在澳大利亚人群中识别单基因糖尿病

De Sousa, Sunita M C; Wu, Kathy H C; Colclough, Kevin; Rawlings, Lesley; Dubowsky, Andrew; Monnik, Melissa; Poplawski, Nicola; Scott, Hamish S; Horowitz, Michael; Torpy, David J

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

Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study

探索遗传性癌症综合征基因变异重新分类的影响:一项定性研究的新主题

Wedd, Laura; Gleeson, Margaret; Meiser, Bettina; O'Shea, Rosie; Barlow-Stewart, Kristine; Spurdle, Amanda B; James, Paul; Fleming, Jane; Nichols, Cassandra; Austin, Rachel; Cops, Elisa; Monnik, Melissa; Do, Judy; Kaur, Rajneesh

Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study

利益相关者对建立国家遗传性癌症易感基因组登记库的态度:一项定性研究

Meiser, Bettina; Monnik, Melissa; Austin, Rachel; Nichols, Cassandra; Cops, Elisa; Salmon, Lucinda; Spurdle, Amanda B; Macrae, Finlay; Taylor, Natalie; Pachter, Nicholas; James, Paul; Kaur, Rajneesh