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

Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing

体验急性基因组护理：新生儿和儿科重症监护病房家长对快速基因组测序的看法

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-02012-7
Mackley, Michael P; Dickson, Megan A; Szuto, Anna; Anderson, James; Chitayat, David; Hayeems, Robin Z; Mendoza-Londono, Roberto; Ng, Eugene; Offringa, Martin; Wang, Yi Wen; Ly, Linh G; Chad, Lauren
发表日期：2026
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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

期刊:Paediatrics & Child Health
影响因子:2
doi:10.1093/pch/pxaf080
Mackley, Michael P; Shickh, Salma; Lee, Whiwon; Hansen, Abigail; Fooks, Katharine; Dolman, Lena; Peltekova, Iskra; Hartley, Taila; Hayeems, Robin Z
发表日期：2026
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The clinical utility of genome sequencing is multi-dimensional: experience from the Hong Kong Genome Project

基因组测序的临床应用具有多维度：来自香港基因组计划的经验

期刊:
影响因子:
doi:10.1038/s43856-026-01441-9
Chu, Annie Tsz Wai; Chung, Claudia Ching Yan; Luk, Ho Ming; Cheng, Shirley Sze Wing; Hayeems, Robin; Luca, Stephanie; Chung, Brian Hon Yin
发表日期：2026
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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

期刊:BMJ Open
影响因子:
doi:10.1136/bmjopen-2025-115821
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
发表日期：2026
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The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services

“遗传导航器”的开发和可用性：面向成人和儿童临床遗传服务的数字解决方案

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01871-4
Saeedi, Saumeh; Hirjikaka, Daena; Clausen, Marc; Luca, Stephanie; Reble, Emma; Kodida, Rita; Assamad, Daniel; Chad, Lauren; Costain, Gregory; Faghfoury, Hanna; Silver, Josh; Shastri-Estrada, Serena; Smith, Maureen; Hayeems, Robin Z; Bombard, Yvonne
发表日期：2025
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Non-geneticist champions are essential to the mainstreaming of genomic medicine

非遗传学领域的倡导者对于基因组医学的主流化至关重要。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01780-y
Mackley, Michael P; Weisz, Emma; Hayeems, Robin Z; Gaff, Clara; Dawson-McClaren, Belinda
发表日期：2025
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Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency: A Sibling Cohort Study

早期治疗胍基乙酸甲基转移酶缺乏症的预后：一项同胞队列研究

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200262
Caspi, Liora; Hayeems, Robin; Schulze, Andreas
发表日期：2025
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Protocol for the development of a core outcome set for type 1 diabetes risk screening

制定1型糖尿病风险筛查核心结果集的方案

期刊:BMJ Open
影响因子:2.3
doi:10.1136/bmjopen-2025-099537
Chen, Celine; Luca, Stephanie; Hansen, Abigail; Wherrett, Diane K; Witteman, Holly O; Chakraborty, Pranesh; L'Espérance, Audrey; Wilson, Michael G; McGavock, Jonathan; Delorme, Sasha; Hayeems, Robin Z
糖尿病
代谢
发表日期：2025
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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

期刊:BMJ Open
影响因子:2.3
doi:10.1136/bmjopen-2025-107603
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
发表日期：2025
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Implementation of a Sudden Cardiac Death Risk Prediction Tool in Clinical Practice Through Electronic Health Records (INSERT-HCM Study Design)

通过电子健康记录在临床实践中实施猝死风险预测工具（INSERT-HCM 研究设计）

期刊:CJC Open
影响因子:1.9
doi:10.1016/j.cjco.2024.10.002
Papaz, Tanya; Seto, Emily; Anthony, Samantha J; Pol, Sarah J; Hayeems, Robin; Barwick, Melanie; Mital, Seema
发表日期：2025
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