AB011. Preimplantation genetic diagnosis—experience from Hong Kong

Por Chung, Brian Hon-Yin
Publicado no Ann Transl Med (2015)

AB012. Applying whole exome sequencing (WES) to solve undiagnosed diseases in children in Hong Kong

Por Chung, Brian Hon-Yin
Publicado no Ann Transl Med (2015)

AB119. Computer-aided facial recognition of Chinese individuals with 22q11.2 deletion-algorithm training using NIH atlas of human malformation syndromes from diverse population

Por Mok, Gary Tsz Kin, Chung, Brian Hon-Yin
Publicado no Ann Transl Med (2017)

EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome

Por Zeng, Shuai, Yang, Jing, Chung, Brian Hon-Yin, Lau, Yu Lung, Yang, Wanling
Publicado em 2014

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy

Por Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin
Publicado em 2013

A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma

Por Chu, Yoyo Wing-Yiu, Cheuk, Daniel Ka Leung, Chung, Brian Hon Yin, Bowers, Naomi L, Ha, Shau-Yin, Chiang, Alan Kwok-Shing, Chan, Godfrey Chi-Fung
Publicado no BMJ Case Rep (2014)

Validation and application of health utilities index in Chinese subjects with down syndrome

Por Mok, Winnie Ka Yan, Wong, Wilfred Hing-Sang, Mok, Gary Tsz Kin, Chu, Yoyo Wing Yiu, Ho, Frederick Ka Wing, Chow, Chun Bong, Ip, Patrick, Chung, Brian Hon-Yin
Publicado em 2014

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Por 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
Publicado no Mol Autism (2017)

Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway

Por 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
Publicado no PLoS One (2017)

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

Por Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Tafoya, Mark E., Karjosukarso, Dyah, Collin, Rob W.J., Topping, Joanne, Downey, Louise M., Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Publicado no Am J Hum Genet (2017)

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

Por 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
Publicado no Mol Autism (2017)

Wide spectrum of developmental brain disorders from megalencephaly to focal cortical dysplasia and pigmentary mosaicism caused by mutations of MTOR

Por Mirzaa, Ghayda M., Campbell, Catarina D., Solovieff, Nadia, Goold, Carleton, Jansen, Laura A., Menon, Suchithra, Timms, Andrew E., Conti, Valerio, Biag, Jonathan D., Adams, Carissa, Boyle, Evan August, Collins, Sarah, Ishak, Gisele, Poliachik, Sandra, Girisha, Katta M., Yeung, Kit San, Chung, Brian Hon Yin, Rahikkala, Elisa, Gunter, Sonya A., McDaniel, Sharon S., Macmurdo, Colleen Forsyth, Bernstein, Jonathan A., Martin, Beth, Leary, Rebecca, Mahan, Scott, Liu, Shanming, Weaver, Molly, Doerschner, Michael, Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Shendure, Jay, Saneto, Russell P., Novotny, Edward J., Wilson, Christopher J., Sellers, William R., Morrissey, Michael, Hevner, Robert F., Ojemann, Jeffrey G., Guerrini, Renzo, Murphy, Leon O., Winckler, Wendy, Dobyns, William B.
Publicado no JAMA Neurol (2016)

Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus

Por Zhang, Yan, Wang, Yong-Fei, Yang, Jing, Zhang, Jing, Sun, Liangdan, Hirankarn, Nattiya, Pan, Hai-Feng, Lau, Chak Sing, Chan, Tak Mao, Lee, Tsz Leung, Leung, Alexander Moon Ho, Mok, Chi Chiu, Zhang, Lu, Shen, Jiangshan Jane, Wong, Sik Nin, Lee, Ka Wing, Ho, Marco Hok Kung, Lee, Pamela Pui Wah, Chung, Brian Hon-Yin, Chong, Chun Yin, Wong, Raymond Woon Sing, Mok, Mo Yin, Wong, Wilfred Hing Sang, Tong, Kwok Lung, Tse, Niko Kei Chiu, Li, Xiang-Pei, Avihingsanon, Yingyos, Rianthavorn, Pornpimol, Deekajorndej, Thavatchai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk, Ying, Shirley King Yee, Fung, Samuel Ka Shun, Lai, Wai Ming, Wong, Chun-Ming, Ng, Irene Oi Lin, Garcia-Barcelo, Maria-Merce, Cherny, Stacey S, Tam, Paul Kwong-Hang, Sham, Pak Chung, Yang, Sen, Ye, Dong Qing, Cui, Yong, Zhang, Xue-Jun, Yang, Wanling, Lau, Yu Lung
Publicado no Arthritis Res Ther (2015)

Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians

Por Yang, Wanling, Tang, Huayang, Zhang, Yan, Tang, Xianfa, Zhang, Jing, Sun, Liangdan, Yang, Jing, Cui, Yong, Zhang, Lu, Hirankarn, Nattiya, Cheng, Hui, Pan, Hai-Feng, Gao, Jinping, Lee, Tsz Leung, Sheng, Yujun, Lau, Chak Sing, Li, Yang, Chan, Tak Mao, Yin, Xianyong, Ying, Dingge, Lu, Qianjin, Leung, Alexander Moon Ho, Zuo, Xianbo, Chen, Xiang, Tong, Kwok Lung, Zhou, Fusheng, Diao, Qingchun, Tse, Niko Kei Chiu, Xie, Hongfu, Mok, Chi Chiu, Hao, Fei, Wong, Sik Nin, Shi, Bingjun, Lee, Ka Wing, Hui, Yan, Ho, Marco Hok Kung, Liang, Bo, Lee, Pamela Pui Wah, Cui, Hongzhou, Guo, Qing, Chung, Brian Hon-Yin, Pu, Xiongming, Liu, Qiji, Zhang, Xiaoguang, Zhang, Change, Chong, Chun Yin, Fang, Hong, Wong, Raymond Woon Sing, Sun, Yonghu, Mok, Mo Yin, Li, Xiang-Pei, Avihingsanon, Yingyos, Zhai, Zhifang, Rianthavorn, Pornpimol, Deekajorndej, Thavatchai, Suphapeetiporn, Kanya, Gao, Fei, Shotelersuk, Vorasuk, Kang, Xiaojing, Ying, Shirley King Yee, Zhang, Lijuan, Wong, Wilfred Hing Sang, Zhu, Dingxian, Fung, Samuel Ka Shun, Zeng, Fanqin, Lai, Wai Ming, Wong, Chun-Ming, Ng, Irene Oi Lin, Garcia-Barceló, Maria-Mercè, Cherny, Stacey S., Shen, Nan, Tam, Paul Kwong-Hang, Sham, Pak Chung, Ye, Dong-Qing, Yang, Sen, Zhang, Xuejun, Lau, Yu Lung
Publicado em 2013