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

Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study

香港基因组计划初期阶段未确诊疾病和遗传性癌症参与者的经历：一项混合方法研究

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00746-5
Chu, Annie Tw; Sze, Samuel Yc; Tse, Desiree Ms; Lai, Cheryl Wy; Ng, Carmen S; Yu, Coco Ws; Chung, Pui-Hong; Pang, Fei-Chau; Chung, Brian Hy; Lo, Su-Vui; Quan, Jianchao
肿瘤
肿瘤免疫
发表日期：2025
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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

儿童期发病疾病的外显子组测序：医学遗传学家广泛参与诊断历程的影响

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-018-0056-5
Mak, Christopher Cy; Leung, Gordon Kc; Mok, Gary Tk; Yeung, Kit San; Yang, Wanling; Fung, Cheuk-Wing; Chan, Sophelia Hs; Lee, So-Lun; Lee, Ni-Chung; Pfundt, Rolph; Lau, Yu-Lung; Chung, Brian Hy
发表日期：2018
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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

简单的血液检查即可快速诊断葡萄糖转运蛋白1型缺乏症。

期刊:Annals of Neurology
影响因子:7.7
doi:10.1002/ana.24970
Gras, Domitille; Cousin, Christelle; Kappeler, Caroline; Fung, Cheuk-Wing; Auvin, Stéphane; Essid, Nouha; Chung, Brian Hy; Da Costa, Lydie; Hainque, Elodie; Luton, Marie-Pierre; Petit, Vincent; Vuillaumier-Barrot, Sandrine; Boespflug-Tanguy, Odile; Roze, Emmanuel; Mochel, Fanny
发表日期：2017
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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

由隐性WNT1基因突变引起的成骨不全症患者的脑表型变异主要影响脑干和小脑。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2015-103476
Aldinger, Kimberly A; Mendelsohn, Nancy J; Chung, Brian Hy; Zhang, Wenjuan; Cohn, Daniel H; Fernandez, Bridget; Alkuraya, Fowzan S; Dobyns, William B; Curry, Cynthia J
神经科学
发表日期：2016
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