Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy
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
Published in Epilepsia open (01.03.2019)
Published in Epilepsia open (01.03.2019)
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Journal Article
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway
Yeung, Kit San, Chung, Brian Hon-Yin, Choufani, Sanaa, Mok, Mo Yin, Wong, Wai Lap, Mak, Christopher Chun Yu, Yang, Wanling, Lee, Pamela Pui Wah, Wong, Wilfred Hing Sang, Chen, Yi-An, Grafodatskaya, Daria, Wong, Raymond Woon Sing, Lau, Chak Sing, Chan, Daniel Tak Mao, Weksberg, Rosanna, Lau, Yu-Lung
Published in PloS one (13.01.2017)
Published in PloS one (13.01.2017)
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Journal Article
Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong
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
Published in Human genomics (18.08.2021)
Published in Human genomics (18.08.2021)
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Journal Article
Exome sequencing in paediatric patients with movement disorders
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
Published in Orphanet journal of rare diseases (15.01.2021)
Published in Orphanet journal of rare diseases (15.01.2021)
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Journal Article
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data
Yu, Mullin Ho Chung, Mak, Christopher Chun Yu, Fung, Jasmine Lee Fong, Lee, Mianne, Tsang, Mandy Ho Yin, Chau, Jeffrey Fong Ting, Chung, Patrick Ho-Yu, Yang, Wanling, Chan, Godfrey Chi Fung, Lee, So Lun, Lau, Yu Lung, Tam, Paul Kwong Hang, Tang, Clara Sze Man, Yeung, Kit San, Chung, Brian Hon Yin
Published in Journal of human genetics (01.06.2021)
Published in Journal of human genetics (01.06.2021)
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Journal Article
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory
Lai, Theodora Hei Tung, Au, Leung Kuen Sandy, Lau, Yuen Ting Eunice, Lo, Hei Man, Chan, Kelvin Yuen Kwong, Cheung, Ka Wang, Ma, Teresa Wei Ling, Leung, Wing Cheong, Kong, Choi Wah, Shu, Wendy, So, Po Lam, Kwong, Anna Ka Yee, Mak, Christopher Chun Yu, Lee, Mianne, Chui, Martin Man Chun, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Published in Healthcare (Basel) (01.12.2022)
Published in Healthcare (Basel) (01.12.2022)
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Journal Article
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10
Mak, Annisa Shui Lam, Chiu, Annie Ting Gee, Leung, Gordon Ka Chun, Mak, Christopher Chun Yu, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Tang, Wing Fai, Chan, Kelvin Yuen Kwong, Tang, Mary Hoi Yin, Lau Yim, Elizabeth Tak-Kwong, So, Kin Wai, Tao, Victoria Qinchen, Fung, Cheuk Wing, Wong, Virginia Chun Nei, Uddin, Mohammed, Lee, So Lun, Marshall, Christian R, Scherer, Stephen W, Kan, Anita Sik Yau, Chung, Brian Hon Yin
Published in Molecular autism (26.06.2017)
Published in Molecular autism (26.06.2017)
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Journal Article
Prevalence of silent kidney disease in Hong Kong: The Screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program
Li, Philip Kam-Tao, Kwan, Bonnie Ching-Ha, Leung, Chi Bon, Kwan, Tze Hoi, Wong, Kim Ming, Lui, Sing Leung, Tsang, Waikay, Mak, Christopher Chun Yu, Mak, Siuka, Yu, Alexwai-Yin, Tang, Sydney
Published in Kidney international (01.04.2005)
Published in Kidney international (01.04.2005)
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Journal Article
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Yeung, Kit San, Tso, Winnie Wan Yee, Ip, Janice Jing Kun, Mak, Christopher Chun Yu, Leung, Gordon Ka Chun, Tsang, Mandy Ho Yin, Ying, Dingge, Pei, Steven Lim Cho, Lee, So Lun, Yang, Wanling, Chung, Brian Hon-Yin
Published in Molecular autism (20.12.2017)
Published in Molecular autism (20.12.2017)
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Journal Article
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population
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
Published in PLoS genetics (01.02.2021)
Published in PLoS genetics (01.02.2021)
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Journal Article
Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus
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
Published in Epigenetics (03.04.2019)
Published in Epigenetics (03.04.2019)
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Journal Article
A case of prenatal isolated talipes and 22q11.2 deletion syndrome—an important chromosomal disorder missed by noninvasive prenatal screening
Cheung, Ka Wang, Lai, Carman Wing Sze, Mak, Christopher Chun Yu, Hui, Pui Wah, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Published in Prenatal diagnosis (01.04.2018)
Published in Prenatal diagnosis (01.04.2018)
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Journal Article
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
Yeung, Kit San, Ho, Matthew Sai Pong, Lee, So Lun, Kan, Anita Sik Yau, Chan, Kelvin Yuen Kwong, Tang, Mary Hoi Yin, Mak, Christopher Chun Yu, Leung, Gordon Ka Chun, So, Po Lam, Pfundt, Rolph, Marshall, Christian R, Scherer, Stephen W, Choufani, Sanaa, Weksberg, Rosanna, Hon-Yin Chung, Brian
Published in Journal of medical genetics (01.12.2018)
Published in Journal of medical genetics (01.12.2018)
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Journal Article
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis
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
Published in Frontiers in genetics (08.08.2022)
Published in Frontiers in genetics (08.08.2022)
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Journal Article
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
Yu, Mullin Ho Chung, Chau, Jeffrey Fong Ting, Au, Sandy Leung Kuen, Lo, Hei Man, Yeung, Kit San, Fung, Jasmine Lee Fong, Mak, Christopher Chun Yu, Chung, Claudia Ching Yan, Chan, Kelvin Yuen Kwong, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Published in Frontiers in genetics (27.01.2021)
Published in Frontiers in genetics (27.01.2021)
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Journal Article
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
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
Published in Npj genomic medicine (05.08.2019)
Published in Npj genomic medicine (05.08.2019)
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Journal Article
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
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
Published in Circulation. Genomic and precision medicine (01.12.2020)
Published in Circulation. Genomic and precision medicine (01.12.2020)
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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
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
Published in Npj genomic medicine (21.03.2022)
Published in Npj genomic medicine (21.03.2022)
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Journal Article
Exome Sequencing in Paediatric Patients with Movement Disorders with Treatment Possibilities
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J.T. Rodenburg, Lek, Monkol, Huang, Shushu, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Fung, Sharon, Liu, Kam-Tim, Che-Kwan, Ma, Wong, Sheila, Yau, Eric Kin-Cheong, Shuk-Mui Tai, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Li-Yan, Tsung, Smeitink, Jan, Brian Hon-Yin Chung, Cheuk-Wing Fung
Published in Orphanet Journal of Rare Diseases (06.11.2020)
Published in Orphanet Journal of Rare Diseases (06.11.2020)
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