Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

por Luk, Ho-Ming
Publicado 2016

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism

por Wong, Wai Yu, Wong, Lap Ming, Tam, Yuk Him, Luk, Ho Ming
Publicado 2023

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

por Luk, Ho‐Ming, Ivan Lo, Fai‐Man, Sano, Shinichiro, Matsubara, Keiko, Nakamura, Akie, Ogata, Tsutomu, Kagami, Masayo
Publicado 2016

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

por Man, Elim, Tung, Yuet-Ling, Luk, Ho-Ming, Lo, Fai-Man Ivan, Lam, Tak-Sum Stephen, Cheung, Pik-To
Publicado 2013

Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug

por Ling, Janet, Yeung, Wai Lan, Hon, Kam Lun, Lo, Ivan F. M., Luk, Ho-Ming, Fung, Cheuk Wing, Leung, Alexander K. C.
Publicado 2022

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

Fibrodysplasia ossificans progressiva in Hong Kong—A case report series

por Chan, Joshua Chun Ki, Kuong, Evelyn Eugenie, Chan, Joyce Pui Kwan, Luk, Ho Ming, Fung, Jasmine Lee Fong, Tung, Joanna Yuet-ling, Chung, Brian Hon Yin
Publicado 2023

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

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

Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong

por Belaramani, Kiran Moti, Fung, Cheuk Wing, Kwok, Anne Mei Kwun, Lee, Shing Yan Robert, Yau, Eric Kin Cheong, Luk, Ho Ming, Mak, Chloe Miu, Yeung, Matthew Chun Wing, Ngan, Olivia Miu Yung
Publicado 2023

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

Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell

por Leung, Henry C. M., Yu, Huijing, Zhang, Yifan, Leung, Wing Sze, Lo, Ivan F. M., Luk, Ho Ming, Law, Wai-Chun, Ma, Ka Kui, Wong, Chak Lim, Wong, Yat Sing, Luo, Ruibang, Lam, Tak-Wah
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

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

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

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

por Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.
Publicado 2018

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

por Wong, Tsz-sum, Belaramani, Kiran M., Chan, Chun-kong, Chan, Wing-ki, Chan, Wai-lun Larry, Chang, Shek-kwan, Cheung, Sing-ngai, Cheung, Ka-yin, Cheung, Yuk-fai, Chong, Shuk-ching Josephine, Chow, Chi-kwan Jasmine, Chung, Hon-yin Brian, Fan, Sin-ying Florence, Fok, Wai-ming Joshua, Fong, Ka-wing, Fung, Tsui-hang Sharon, Hui, Kwok-fai, Hui, Ting-hin, Hui, Joannie, Ko, Chun-hung, Kwan, Min-chung, Kwok, Mei-kwan Anne, Kwok, Sung-shing Jeffrey, Lai, Moon-sing, Lam, Yau-on, Lam, Ching-wan, Lau, Ming-chung, Law, Chun-yiu Eric, Lee, Wing-cheong, Lee, Han-chih Hencher, Lee, Chin-nam, Leung, Kin-hang, Leung, Kit-yan, Li, Siu-hung, Ling, Tsz-ki Jacky, Liu, Kam-tim Timothy, Lo, Fai-man, Lui, Hiu-tung, Luk, Ching-on, Luk, Ho-ming, Ma, Che-kwan, Ma, Karen, Ma, Kam-hung, Mew, Yuen-ni, Mo, Alex, Ng, Sui-fun, Poon, Wing-kit Grace, Rodenburg, Richard, Sheng, Bun, Smeitink, Jan, Szeto, Cheuk-ling Charing, Tai, Shuk-mui, Tse, Choi-ting Alan, Tsung, Li-yan Lilian, Wong, Ho-ming June, Wong, Wing-yin Winnie, Wong, Kwok-kui, Wong, Suet-na Sheila, Wong, Chun-nei Virginia, Wong, Wai-shan Sammy, Wong, Chi-kin Felix, Wu, Shun-ping, Wu, Hiu-fung Jerome, Yau, Man-mut, Yau, Kin-cheong Eric, Yeung, Wai-lan, Yeung, Hon-ming Jonas, Yip, Kin-keung Edwin, Young, Pui-hong Terence, Yuan, Gao, Yuen, Yuet-ping Liz, Yuen, Chi-lap, Fung, Cheuk-wing
Publicado 2023