First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing

por Shu, Wendy, Cheng, Shirley S. W., Xue, Shuwen, Chan, Lin Wai, Soong, Sung Inda, Kan, Anita Sik Yau, Cheung, Sunny Wai Hung, Choy, Kwong Wai
Publicado 2021

Expanded Carrier Screening in Chinese Population – A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women

por Cheng, Hiu Yee Heidi, Wong, Grace Ching Yin, Chan, Yuen-Kwong Kelvin, Lee, Chin Peng, Tang, Mary Hoi Yin, Ng, Ernest Hung-Yu, Kan, Anita Sik-Yau
Publicado 2020

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

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report

por Ng, Vivian Kwun Sin, Lau, Tze Kin, Kan, Anita Sik Yau, Chung, Brian Hon Yin, Luk, Ho Ming, Ng, Wai Fu, Shi, Mengmeng, Choy, Kwong Wai, Cao, Ye, Leung, Wing Cheong
Publicado 2021

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

por 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
Publicado 2020

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis

por 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
Publicado 2021

Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

por So, Po Lam, Hui, Annie Shuk Yi, Ma, Teresa Wei Ling, Shu, Wendy, Hui, Amelia Pui Wah, Kong, Choi Wah, Lo, Tsz Kin, Kan, Amanda Nim Chi, Kan, Elaine Yee Ling, Chong, Shuk Ching, Chung, Brian Hon Yin, Luk, Ho Ming, Choy, Kwong Wai, Kan, Anita Sik Yau, Leung, Wing Cheong
Publicado 2022

Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy

por 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
Publicado 2018

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong

por Chung, Claudia Ching Yan, Chan, Kelvin Yuen Kwong, Hui, Pui Wah, Au, Patrick Kwok Cheung, Tam, Wai Keung, Li, Samuel Kai Man, Leung, Gordon Ka Chun, Fung, Jasmine Lee Fong, Chan, Marcus Chun Yin, Luk, Ho Ming, Mak, Annisa Shui Lam, Leung, Kwok Yin, Tang, Mary Hoi Yin, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Publicado 2020

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

por 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
Publicado 2022

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 2017

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

por 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
Publicado 2022