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

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

Chu, Annie Tsz Wai; Chung, Claudia Ching Yan; Luk, Ho Ming; Cheng, Shirley Sze Wing; Hayeems, Robin; Luca, Stephanie; Chung, Brian Hon Yin

Early versus delayed anticoagulation treatment for people with non-valvular atrial fibrillation-related acute ischaemic stroke

对于非瓣膜性房颤相关急性缺血性卒中患者,早期抗凝治疗与延迟抗凝治疗的比较

Zhang, Xiaodan; Ng, Timothy Kar Yip; Yang, Yu; Sit, Brian Hon Man; Jian, Xiaoyu; Zhang, Yilin; Li, Qianyun; Rainer, Timothy Hudson

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project

基因组测序在罕见遗传病诊断中的应用:香港基因组计划的一项试点研究

Lam, Wai Kei Jacky; Lau, Chak Sing; Luk, Ho Ming; Au, Lisa Wing Chi; Chan, Gary C P; Chan, Will Yap Hang; Cheng, Shirley Sze Wing; Cheng, Timothy Hua Tse; Cheung, Li Li; Cheung, Yiu Fai; Chong, Josephine Shuk Ching; Chu, Annie Tsz Wai; Chung, Claudia Ching Yan; Chung, Kin Lai; Fung, Cheuk Wing; Fung, Eva Lai Wah; Gao, Yuan; Ho, Stephanie; Hue, Shirley Pik Ying; Lee, Chi-Ho; Lee, Tsz Leung; Li, Philip Hei; Lo, Hei Man; Man Lo, Ivan Fai; Loong, Herbert Ho Fung; Ma, Becky Mingyao; Ma, Wei; Pang, Shirley Yin Yu; Seto, Wai-Kay; Siu, Steven Wai Kwan; So, Ho; Tam, Yuk Him; Tang, Wenshu; Wong, Rosanna Ming Sum; Yap, Desmond Yat Hin; Yau, Maggie Lo Yee; Chung, Brian Hon Yin; Lo, Su-Vui

Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project

基于临床和数据驱动的Genomiser在罕见病患者中的优化:来自香港基因组计划的经验

Xi, Anson Man Chun; Yeung, Denis Long Him; Ma, Wei; Ying, Dingge; Tong, Amy Hin Yan; Or, Dicky; Hue, Shirley Pik Ying; Project, Hong Kong Genome; Chu, Annie Tsz-Wai; Chung, Brian Hon-Yin

NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish

NDUFB7 突变导致人类和斑马鱼的脑神经元缺陷、乳酸性酸中毒和线粒体功能障碍

Yen-Lin Chen #, Brian Hon-Yin Chung #, Masakazu Mimaki, Shumpei Uchino, Yin-Hsiu Chien, Christopher Chun-Yun Mak, Steven Shinn-Forng Peng, Wei-Chen Wang, Yu-Li Lin, Wuh-Liang Hwu, Shyh-Jye Lee, Ni-Chung Lee3

Cell-Free Nucleic Acids for Early Diagnosis of Acute Ischemic Stroke: A Systematic Review and Meta-Analysis

无细胞核酸在急性缺血性卒中早期诊断中的应用:系统评价和荟萃分析

Zhang, Xiaodan; Cai, Yuee; Sit, Brian Hon Man; Jian, Rain Xiaoyu; Malki, Yasine; Zhang, Yilin; Ong, Christopher Chi Yat; Li, Qianyun; Lam, Rex Pui Kin; Rainer, Timothy Hudson

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

一种另辟蹊径的方法:通过将蛋白质组学整合到多组学指导的外显子组重新分析中,推进神经系统疾病的诊断

Chui Martin Man-Chun, Kwong Anna Ka-Yee, Leung Hiu Yu Cherie, Pang Chingyiu, Scheller Ines F, Wong Sheila Suet-Na, Fung Cheuk-Wing, Yépez Vicente A, Gagneur Julien, Mak Christopher Chun-Yu, Chung Brian Hon-Yin

Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project

加速视网膜色素变性基因诊断:香港基因组计划半自动化定制队列分析工作流程的实施

Ying, Dingge; Kwok, Jamie Sui Lam; Chu, Annie Tsz Wai; Ma, Wei; Tam, Helen Ying Fung; Or, Dicky; Hue, Shirley Pik Ying; Li, Qing; Leung, Christopher Kai Shun; Chung, Brian Hon Yin

Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation

早产儿杂合胰岛素受体基因突变导致二氮嗪无反应性高胰岛素血症性低血糖

Poon, Sarah Wing Yiu; Chung, Brian Hon Yin; Wong, Mabel Siu Chun; Tsang, Anita Man Ching

Effects of Communicating Genetic Risk of Type 2 Diabetes and Wearable Technologies on Behavioral Outcomes in East Asians: Statistical Analysis Protocol for a Randomized Controlled Trial

向东亚人群普及2型糖尿病遗传风险信息及可穿戴技术对行为结果的影响:一项随机对照试验的统计分析方案

Ho, Harrison Hin Sheung; Chen, Ziyuan; Godino, Job; Multhaup, Michael; Chan, Derwin King Chung; Au Yeung, Shiu Lun; Luo, Shan; Chung, Brian Hon Yin; Griffin, Simon; Kim, Youngwon