Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

por Chong, Wilson Wai Sing, Lo, Ivan Fai Man, Lam, Stephen Tak Sum, Wang, Chi Chiu, Luk, Ho Ming, Leung, Tak Yeung, Choy, Kwong Wai
Publicado 2014

A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders

por Zhu, Wenjuan, Wang, Chen, Mullapudi, Nandita, Cao, Yanan, Li, Lin, Lo, Ivan Fai Man, Tsui, Stephen Kwok-Wing, Chen, Xiao, Lei, Yong, Gu, Shen
Publicado 2022

ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell

por Leung, Amy Wing-Sze, Leung, Henry Chi-Ming, Wong, Chak-Lim, Zheng, Zhen-Xian, Lui, Wui-Wang, Luk, Ho-Ming, Lo, Ivan Fai-Man, Luo, Ruibang, Lam, Tak-Wah
Publicado 2022

Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

por Lin, Sheng Mou, Luk, Ho Ming, Lo, Ivan Fai Man, Tam, Wai‐Keung, Chan, Kelvin Yuen Kwong, Tse, Hei‐Yee, Leung, Wing Cheong, Tang, Mary Hoi Yin, Kan, Anita Sik Yau
Publicado 2020

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

por Cao, Ye, Luk, Ho Ming, Zhang, Yanyan, Chau, Matthew Hoi Kin, Xue, Shuwen, Cheng, Shirley S. W., Li, Albert Martin, Chong, Josephine S. C., Leung, Tak Yeung, Dong, Zirui, Choy, Kwong Wai, Lo, Ivan Fai Man
Publicado 2022

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental de...

por Wong, Chi Wai, Or, Penelope Mei Yu, Wang, Yubing, Li, Lisha, Li, Jing, Yan, Mingfei, Cao, Ye, Luk, Ho Ming, Tong, Tony Ming For, Leslie, Nick R., Lo, Ivan Fai‐Man, Choy, Kwong Wai, Chan, Andrew Man Lok
Publicado 2018

HKG: an open genetic variant database of 205 Hong Kong cantonese exomes

por Ou, Min, Leung, Henry Chi-Ming, Leung, Amy Wing-Sze, Luk, Ho-Ming, Yan, Bin, Liu, Chi-Man, Tong, Tony Ming-For, Mok, Myth Tsz-Shun, Ko, Wallace Ming-Yuen, Law, Wai-Chun, Lam, Tak-Wah, Lo, Ivan Fai-Man, Luo, Ruibang
Publicado 2022