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
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
Tsang, Mandy H. Y., Chiu, Annie T. G., Kwong, Bernard M. H., Liang, Rui, Yu, Mullin H. C., Yeung, Kit‐San, Ho, Wetor H. L., Mak, Christopher C. Y., Leung, Gordon K. C., Pei, Steven L. C., Fung, Jasmine L. F., Wong, Virginia C. N., Muntoni, Francesco, Chung, Brian H. Y., Chan, Sophelia H. S.
Published in Molecular genetics & genomic medicine (01.05.2020)
Published in Molecular genetics & genomic medicine (01.05.2020)
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Journal Article
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
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 for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
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
Published in Npj genomic medicine (06.08.2018)
Published in Npj genomic medicine (06.08.2018)
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Journal Article
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
Leung, Gordon K. C., Ying, Dingge, Mak, Christopher C. Y., Chen, Xin‐Ying, Xu, Weiyi, Yeung, Kit‐San, Wong, Wai‐Lap, Chu, Yoyo W. Y., Mok, Gary T. K., Chau, Christy S. K., McLuskey, Jenna, Ong, Winnie P. T., Leong, Huey‐Yin, Chan, Kelvin Y. K., Yang, Wanling, Chen, Jeng‐Haur, Li, Albert M., Sham, Pak C., Lau, Yu‐Lung, Chung, Brian H. Y., Lee, So‐Lun
Published in Molecular genetics & genomic medicine (01.01.2017)
Published in Molecular genetics & genomic medicine (01.01.2017)
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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
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
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
Seto, Mimi Tin‐Yan, Bertoli‐Avella, Aida M., Cheung, Ka Wang, Chan, Kelvin Yuen‐Kwong, Yeung, Kit San, Fung, Jasmine Lee‐Fong, Beetz, Christian, Bauer, Peter, Luk, Ho Ming, Lo, Ivan Fai‐Man, Lee, Chin Peng, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (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
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
Chung, Claudia C.Y., Leung, Gordon K.C., Mak, Christopher C.Y., Fung, Jasmine L.F., Lee, Mianne, Pei, Steven L.C., Yu, Mullin H.C., Hui, Vivian C.C., Chan, Joshua C.K., Chau, Jeffrey F.T., Chan, Marcus C.Y., Tsang, Mandy H.Y., Wong, Wilfred H.S., Tung, Joanna Y.L., Lun, Kin Shing, Ng, Yiu Ki, Fung, Cheuk Wing, Wong, Mabel S.C., Wong, Rosanna M.S., Lau, Yu Lung, Chan, Godfrey C.F., Lee, So Lun, Yeung, Kit San, Chung, Brian H.Y.
Published in The Lancet regional health. Western Pacific (01.08.2020)
Published in The Lancet regional health. Western Pacific (01.08.2020)
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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
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
108 Actionable pharmacogenetic variants in hong kong chinese exome data and projected prescription impact in the hong kong population leading to precision medicine
Yu, Mullin, Chung, Brian, Chan, Marcus, Yeung, Kit San, Tang, Clara, Chung, Claudia
Published in BMJ paediatrics open (01.04.2021)
Published in BMJ paediatrics open (01.04.2021)
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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
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Tsang, Mandy H Y, Kwong, Anna K Y, Chan, Kate L S, Fung, Jasmine L F, Yu, Mullin H C, Mak, Christopher C Y, Yeung, Kit-San, Rodenburg, Richard J T, Smeitink, Jan A M, Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S N, Tai, Shuk-Mui, Chan, Victor C M, Ma, Che-Kwan, Fung, Sharon T H, Wu, Shun-Ping, Chak, W K, Chung, Brian H Y, Fung, Cheuk-Wing
Published in Human genomics (10.09.2020)
Published in Human genomics (10.09.2020)
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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
170 Expanded carrier screening: primary prevention of recessive monogenic diseases evaluated using 1,909 chinese genome and exome sequencing data
Jeffrey Chau, Fong Ting, Mullin Yu, Ho Chung, Tang, Sze-Man Clara, Yeung, Kit San, Chung, Hon-Yin Brian
Published in BMJ paediatrics open (01.04.2021)
Published in BMJ paediatrics open (01.04.2021)
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Journal Article
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
Tung, Joanna Yuet-Ling, Lai, Sophie Hon Yu, Au, Sandy Leung Kuen, Yeung, Kit San, Kan, Anita Sik Yau, Loong, Florence, DeLeón, Diva D, Kalish, Jennifer M, Ganguly, Arupa, Chung, Brian Hon Yin, Chan, Kelvin Yuen Kwong
Published in International journal of pediatric endocrinology (10.07.2020)
Published in International journal of pediatric endocrinology (10.07.2020)
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