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

Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study

将儿科专科医生纳入基因组医学服务:一项定性研究

Mackley, Michael P; Shickh, Salma; Lee, Whiwon; Hansen, Abigail; Fooks, Katharine; Dolman, Lena; Peltekova, Iskra; Hartley, Taila; Hayeems, Robin Z

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study

了解基因组学次要发现对临床护理和患者体验的影响:一项前瞻性观察研究方案

Assamad, Daniel; Hansen, Abigail; Fooks, Katharine; Luca, Stephanie; Venkataramanan, Viji; Hsue, Erin; Shickh, Salma; Yan, Joyce; Wu, Vercancy; Badalato, Lauren; Balci, Tugce B; Beausejour Ladouceur, Virginie; Chad, Lauren; Chisholm, Caitlin; Gillespie, Meredith K; Huang, Lijia; Jarinova, Olga; Lau, Lynette; Lee, Whiwon; Mackley, Michael P; Marshall, Christian R; Mendoza-Londono, Roberto; Morel, Chantal F; Richer, Julie; Sawyer, Sarah; Stavropoulos, Dimitri J; Szuto, Anna; Tarnopolsky, Mark; Villani, Anita; Zahavich, Laura; Somerville, Martin J; Boycott, Kym M; Ungar, Wendy J; Hayeems, Robin Z

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist

TRIAGE-GS:一项针对等待临床遗传学家评估的罕见病患者,采用基因组学优先方法进行诊断的随机对照试验方案

Stanley, Kaitlin J; Chisholm, Caitlin; Gillespie, Meredith K; Caluseriu, Oana; Del Signore, Natalie; Elango, Sonya; Hartley, Taila; Hewson, Stacy; Kim, Raymond H; McSheffrey, Gordon; Mendoza-Londono, Roberto; Sawyer, Sarah L; Somerville, Martin; Venkataramanan, Viji; White-Brown, Alexandre; Telesca, Stephanie; Shickh, Salma; Marshall, Christian R; Ungar, Wendy J; Hayeems, Robin Z; Bhawra, Jasmin; Boycott, Kym M; Costain, Gregory

Opportunistic genomic screening has clinical utility: An interventional cohort study

机会性基因组筛查具有临床应用价值:一项干预性队列研究

Mighton, Chloe; Kodida, Rita; Shickh, Salma; Clausen, Marc; Reble, Emma; Sam, Jordan; Grewal, Sonya; Hirjikaka, Daena; Panchal, Seema; Piccinin, Carolyn; Aronson, Melyssa; Ward, Thomas; Armel, Susan Randall; Hofstedter, Renee; Graham, Tracy; Mancuso, Talia; Forster, Nicole; Capo-Chichi, José-Mario; Greenfeld, Elena; Noor, Abdul; Cohn, Iris; Morel, Chantal F; Elser, Christine; Eisen, Andrea; Carroll, June C; Glogowksi, Emily; Schrader, Kasmintan A; Chan, Kelvin K W; Thorpe, Kevin E; Lerner-Ellis, Jordan; Kim, Raymond H; Bombard, Yvonne

"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening

“我只是想要更多”:遗传性癌症综合征患者对循环肿瘤DNA检测在癌症筛查中应用价值的看法

Adi-Wauran, Ella; Clausen, Marc; Shickh, Salma; Gagliardi, Anna R; Denburg, Avram; Oldfield, Leslie E; Sam, Jordan; Reble, Emma; Krishnapillai, Suvetha; Regier, Dean A; Baxter, Nancy N; Dawson, Lesa; Penney, Lynette S; Foulkes, William; Basik, Mark; Sun, Sophie; Schrader, Kasmintan A; Karsan, Aly; Pollett, Aaron; Pugh, Trevor J; Kim, Raymond H; Bombard, Yvonne

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing

遗传学顾问:开发并进行一款新型患者数字健康应用程序的可用性测试,以支持临床基因组检测

Clausen, Marc; Krishnapillai, Suvetha; Hirjikaka, Daena; Kodida, Rita; Shickh, Salma; Reble, Emma; Mighton, Chloe; Sam, Jordan; Adi-Wauran, Ella; Baxter, Nancy N; Feldman, Geoff; Glogowski, Emily; Lerner-Ellis, Jordan; Scheer, Adena; Shastri-Estrada, Serena; Shuman, Cheryl; Armel, Susan Randall; Aronson, Melyssa; Graham, Tracy; Panchal, Seema; Thorpe, Kevin E; Carroll, June C; Eisen, Andrea; Elser, Christine; Kim, Raymond H; Faghfoury, Hanna; Schrader, Kasmintan A; Seto, Emily; Bombard, Yvonne

"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing

“我不想再让任何未知因素悬在我的头上”:癌症患者对基因组测序中意义未明变异和低/中风险结果的看法

Shickh, Salma; Mighton, Chloe; Clausen, Marc; Kodida, Rita; Adi-Wauran, Ella; Hirjikaka, Daena; Krishnapillai, Suvetha; Reble, Emma; Sam, Jordan; Baxter, Nancy N; Laupacis, Andreas; Bombard, Yvonne

Great expectations: patients' preferences for clinically significant results from genomic sequencing

患者期望高远:他们希望基因组测序获得具有临床意义的结果

Shickh, Salma; Sebastian, Agnes; Clausen, Marc; Mighton, Chloe; Elser, Christine; Eisen, Andrea; Waldman, Larissa; Panchal, Seema; Ward, Thomas; Carroll, June C; Glogowski, Emily; Schrader, Kasmintan A; Lerner-Ellis, Jordan; Kim, Raymond H; Thorpe, Kevin E; Bombard, Yvonne

Theory-based behavior change intervention to increase uptake of risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 pathogenic variant: The PREVENT randomized controlled trial

基于理论的行为改变干预措施,旨在提高携带 BRCA1 或 BRCA2 致病变异的女性接受风险降低性输卵管卵巢切除术的比例:PREVENT 随机对照试验

Metcalfe, Kelly A; Pal, Tuya; Narod, Steven A; Armel, Susan; Shickh, Salma; Buckley, Kathleen; Walters, Scott T; Brennenstuhl, Sarah; Kinney, Anita Y

Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings

拓宽行动视角:一项关于初级保健提供者对管理次要基因组学发现的观点和经验的定性研究

Sebastian, Agnes; Carroll, June C; Vanstone, Meredith; Clausen, Marc; Kodida, Rita; Reble, Emma; Mighton, Chloe; Shickh, Salma; Aronson, Melyssa; Eisen, Andrea; Elser, Christine; Lerner-Ellis, Jordan; Kim, Raymond H; Bombard, Yvonne