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

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

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

利用外显子组和基因组测序数据对1543名中国南方居民的隐性携带者状态进行综合分析

Chau, Jeffrey Fong Ting; Yu, Mullin Ho Chung; Chui, Martin Man Chun; Yeung, Cyrus Chun Wing; Kwok, Aaron Wing Cheung; Zhuang, Xuehan; Lee, Ryan; Fung, Jasmine Lee Fong; Lee, Mianne; Mak, Christopher Chun Yu; Ng, Nicole Ying Ting; Chung, Claudia Ching Yan; Chan, Marcus Chun Yin; Tsang, Mandy Ho Yin; Chan, Joshua Chun Ki; Chan, Kelvin Yuen Kwong; Kan, Anita Sik Yau; Chung, Patrick Ho Yu; Yang, Wanling; Lee, So Lun; Chan, Godfrey Chi Fung; Tam, Paul Kwong Hang; Lau, Yu Lung; Yeung, Kit San; Chung, Brian Hon Yin; Tang, Clara Sze Man

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

支气管扩张症患儿及青少年的功能评估和遗传图谱

Chau, Jeffrey Fong Ting; Lee, Mianne; Chui, Martin Man Chun; Yu, Mullin Ho Chung; Fung, Jasmine Lee Fong; Mak, Christopher Chun Yu; Chau, Christy Shuk-Kuen; Siu, Ka Ka; Hung, Jacqueline; Yeung, Kit San; Kwong, Anna Ka Yee; O'Callaghan, Christopher; Lau, Yu Lung; Lee, Chun-Wai Davy; Chung, Brian Hon-Yin; Lee, So-Lun

Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong

香港大学生对个性化医疗、药物基因组学和基因检测的认知

Cheung, Nicholas Yan Chai; Fung, Jasmine Lee Fong; Ng, Yvette Nga Chung; Wong, Wilfred Hing Sang; Chung, Claudia Ching Yan; Mak, Christopher Chun Yu; Chung, Brian Hon Yin

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

香港华人外显子组测序数据中可操作的药物遗传学变异及其对香港人群处方影响的预测

Yu, Mullin Ho Chung; Chan, Marcus Chun Yin; Chung, Claudia Ching Yan; Li, Andrew Wang Tat; Yip, Chara Yin Wa; Mak, Christopher Chun Yu; Chau, Jeffrey Fong Ting; Lee, Mianne; Fung, Jasmine Lee Fong; Tsang, Mandy Ho Yin; Chan, Joshua Chun Ki; Wong, Wilfred Hing Sang; Yang, Jing; Chui, William Chun Ming; Chung, Patrick Ho Yu; Yang, Wanling; Lee, So Lun; Chan, Godfrey Chi Fung; Tam, Paul Kwong Hang; Lau, Yu Lung; Tang, Clara Sze Man; Yeung, Kit San; Chung, Brian Hon Yin

Exome sequencing in paediatric patients with movement disorders

儿童运动障碍患者的外显子组测序

Kwong, Anna Ka-Yee; Tsang, Mandy Ho-Yin; Fung, Jasmine Lee-Fong; Mak, Christopher Chun-Yu; Chan, Kate Lok-San; Rodenburg, Richard J T; Lek, Monkol; Huang, Shushu; Pajusalu, Sander; Yau, Man-Mut; Tsoi, Cheung; Fung, Sharon; Liu, Kam-Tim; Ma, Che-Kwan; Wong, Sheila; Yau, Eric Kin-Cheong; Tai, Shuk-Mui; Fung, Eva Lai-Wah; Wu, Nick Shun-Ping; Tsung, Li-Yan; Smeitink, Jan; Chung, Brian Hon-Yin; Fung, Cheuk-Wing

Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction

CC2D1A基因的单等位基因突变提示其在人类异位症和纤毛功能障碍中发挥新作用

Ma, Alvin Chun Hang; Mak, Christopher Chun Yu; Yeung, Kit San; Pei, Steven Lim Cho; Ying, Dingge; Yu, Mullin Ho Chung; Hasan, Kazi Md Mahmudul; Chen, Xiangke; Chow, Pak Cheong; Cheung, Yiu Fai; Chung, Brian Hon Yin

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

原发性辅酶Q10缺乏症-7:表型谱扩大,且在中国南方发现创始突变

Yu, Mullin Ho-Chung; Tsang, Mandy Ho-Yin; Lai, Sophie; Ho, Matthew Sai-Pong; Tse, Donald M L; Willis, Brooke; Kwong, Anna Ka-Yee; Chou, Yen-Yin; Lin, Shuan-Pei; Quinzii, Catarina M; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Kuo, Pao-Lin; Chan, Victor Chi-Man; Tsoi, Cheung; Chong, Shuk-Ching; Rodenburg, Richard J T; Smeitink, Jan; Mak, Christopher Chun-Yu; Yeung, Kit-San; Fung, Jasmine Lee-Fong; Lam, Wendy; Hui, Joannie; Lee, Ni-Chung; Fung, Cheuk-Wing; Chung, Brian Hon-Yin

Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus

儿童期发病系统性红斑狼疮患者的细胞谱系特异性全基因组DNA甲基化分析

Yeung, Kit San; Lee, Tsz Leung; Mok, Mo Yin; Mak, Christopher Chun Yu; Yang, Wanling; Chong, Patrick Chun Yin; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Choufani, Sanaa; Lau, Chak Sing; Lau, Yu Lung; Weksberg, Rosanna; Chung, Brian Hon Yin

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy

外显子组测序可确定药物难治性癫痫患儿的分子诊断

Tsang, Mandy Ho-Yin; Leung, Gordon Ka-Chun; Ho, Alvin Chi-Chung; Yeung, Kit-San; Mak, Christopher Chun-Yu; Pei, Steven Lim-Cho; Yu, Mullin Ho-Chung; Kan, Anita Sik-Yau; Chan, Kelvin Yuen-Kwong; Kwong, Karen Ling; Lee, So-Lun; Yung, Ada Wing-Yan; Fung, Cheuk-Wing; Chung, Brian Hon-Yin