Elements of morphology: Standard terminology for the trunk and limbs
Biesecker, Leslie G., Adam, Margaret P., Chung, Brian Hon‐Yin, Kosaki, Kenjiro, Menke, Leonie A., White, Susan M., Carey, John C., Hennekam, Raoul C. M.
Published in American journal of medical genetics. Part A (01.11.2022)
Published in American journal of medical genetics. Part A (01.11.2022)
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Journal Article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Pagnamenta, Alistair T., Jackson, Adam, Perveen, Rahat, Beaman, Glenda, Petts, Gemma, Gupta, Asheeta, Hyder, Zerin, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau, Cheung, Ka Wang, Kerstjens‐Frederikse, Wilhelmina S., Abbott, Kristin M., Elpeleg, Orly, Taylor, Jenny C., Banka, Siddharth, Ta‐Shma, Asaf
Published in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
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A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course
Li, Jennifer Yee‐ming, Ho, Fanny Tsz‐wai, Lee, Mianne, Chan, Joyce, Chung, Brian Hon‐yin, Tung, Joanna Yuet‐ling, Ma, Alison Lap‐tak
Published in American journal of medical genetics. Part A (01.08.2024)
Published in American journal of medical genetics. Part A (01.08.2024)
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Journal Article
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series
Ho, Stephanie, Tsang, Mandy Ho‐Yin, Fung, Jasmine Lee‐Fong, Huang, Haibo, Chow, Chun‐Bong, Cheng, Shirley Sze‐Wing, Luk, Ho‐Ming, Chung, Brian Hon‐Yin, Lo, Ivan Fai‐Man
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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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
Training in clinical genetics and genetic counseling in Asia
Cutiongco‐de la Paz, Eva Maria, Chung, Brian Hon‐Yin, Faradz, Sultana M. H., Thong, Meow‐Keong, David‐Padilla, Carmencita, Lai, Poh San, Lin, Shuan‐Pei, Chen, Yin‐Hsiu, Sura, Thanyachai, Laurino, Mercy
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
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Journal Article
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension
McDonell, Laura M., Leung, Gordon Ka‐Chun, Daoud, Hussein, Ip, Janice, Chim, Stella, Luk, Ho Ming, Lan, Lawrence, Boycott, Kym M., Chung, Brian Hon‐Yin
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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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
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W., Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J., Chung, Brian Hon-Yin, Tsang, Mandy Ho-Yin, Pais, Lynn S., Lovgren, Alysia Kern, VanNoy, Grace E., Rehm, Heidi L., Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P., Manfield, Iain W., Parry, David A., Logan, Clare V., Johnson, Colin A., Bonthron, David T., Valleley, Elizabeth M.A., Issa, Mahmoud Y., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S., Jennings, Patricia, Zaki, Maha S., Sheridan, Eamonn, Gleeson, Joseph G.
Published in Neuron (Cambridge, Mass.) (20.01.2021)
Published in Neuron (Cambridge, Mass.) (20.01.2021)
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Epistatic Interaction between Genetic Variants in Susceptibility Gene ETS1 Correlates with IL‐17 Levels in SLE Patients
Zhang, Jing, Zhang, Yan, Zhang, Lu, Yang, Jing, Ying, Dingge, Zeng, Shuai, Lee, Tsz Leung, Lau, Chak Sing, Chan, Tak Mao, Leung, Alexander Moon Ho, Mok, Chi Chiu, Wong, Sik Nin, Lee, Ka Wing, Ho, Marco Hok Kung, Lee, Pamela Pui Wah, Hon‐Yin Chung, Brian, Chong, Chun Yin, Wong, Raymond Woon Sing, Mok, Mo Yin, Wong, Wilfred Hing Sang, Lau, Yu Lung, Yang, Wanling
Published in Annals of human genetics (01.07.2013)
Published in Annals of human genetics (01.07.2013)
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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
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing
Cao, Yujie, Yin Ha, Shau, So, Chi-Chiu, For, Tong Ming, Sze-Man Tang, Clara, Zhang, Huoru, Liang, Rui, Yang, Jing, Hon-Yin Chung, Brian, Chi-Fung Chan, Godfrey, Lau, Yu-Lung, Garcia-Barcelo, Maria-Mercè, Shiu-Kwan Ma, Edmond, Sucharitchan, Pranee, Hirankarn, Nattiya, Yang, Wanling
Published in The Journal of molecular diagnostics : JMD (01.10.2022)
Published in The Journal of molecular diagnostics : JMD (01.10.2022)
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Journal Article
Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum
Yeung, Kit San, Ip, Janice Jing Kun, Chow, Chin Pang, Kuong, Evelyn Yue Ling, Tam, Paul Kwong‐Hang, Chan, Godfrey Chi‐Fung, Chung, Brian Hon‐Yin
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
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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
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
Rare versus common diseases: a false dichotomy in precision medicine
Chung, Brian Hon Yin, Chau, Jeffrey Fong Ting, Wong, Gane Ka-Shu
Published in Npj genomic medicine (24.02.2021)
Published in Npj genomic medicine (24.02.2021)
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Journal Article
Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment
Lai, Sophie H.Y., Duque, Jaime S. Rosa, Chung, Brian Hon-Yin, Chung, Tom Wai-Hin, Leung, Daniel, Ho, Ronnie Siu-Lun, Lee, Raymand, Poon, Rosana W.S., Chua, Gilbert T., Cheong, Kai-Ning, Chui, Martin Man Chun, Lee, Mianne, Tam, Sidney, Him, Andrew Ho Cheuk, Cheng, King-Fai, Ho, Wilson Wai-Shing, Yuen, Kwok-Yung, Lee, Pamela, Lau, Yu-Lung
Published in International journal of infectious diseases (01.06.2021)
Published in International journal of infectious diseases (01.06.2021)
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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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