Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases by Ho-Ming Luk

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Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug by Janet Ling, Wai Lan Yeung, Kam Lun Hon, Ivan F. M. Lo, Ho-Ming Luk, Cheuk Wing Fung, Alexander K. C. Leung

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“Using dried blood spots beyond newborn screening – is Hong Kong ready?”: navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture by Olivia Miu Yung Ngan, Cheuk Wing Fung, Mei Kwun Kwok, Eric Kin Cheong Yau, Shing Yan Robert Lee, Ho-Ming Luk, Kiran Moti Belaramani

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Case report: Treatment response of NF-1-associated bladder ganglioneuroma to trametinib by Marcus C. Y. Chan, Kevin K. F. Fung, Wai-Fu Ng, Ho-Ming Luk, Dennis T. L. Ku, Anthony P. Y. Liu, Anthony P. Y. Liu, Anthony P. Y. Liu

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ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell by Amy Wing-Sze Leung, Henry Chi-Ming Leung, Chak-Lim Wong, Zhen-Xian Zheng, Wui-Wang Lui, Ho-Ming Luk, Ivan Fai-Man Lo, Ruibang Luo, Tak-Wah Lam

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Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development by Yuenshan Sammi Wong, Yuenshan Sammi Wong, Ho Ming Luk, Ho Chung Yau, Lap Ming Wong, Sarah Wing Yiu Poon, Joanna Yuet Ling Tung, Yuk Him Tam, Yuk Him Tam

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Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis by Sheng Mou Lin, Ho Ming Luk, Ivan Fai Man Lo, Wai‐Keung Tam, Kelvin Yuen Kwong Chan, Hei‐Yee Tse, Wing Cheong Leung, Mary Hoi Yin Tang, Anita Sik Yau Kan

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A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the <i>OCLN</i> Gene: A Case Report by Vivian Kwun Sin Ng, Tze Kin Lau, Anita Sik Yau Kan, Brian Hon Yin Chung, Ho Ming Luk, Wai Fu Ng, Mengmeng Shi, Kwong Wai Choy, Ye Cao, Wing Cheong Leung

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Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong by Kiran Moti Belaramani, Cheuk Wing Fung, Anne Mei Kwun Kwok, Shing Yan Robert Lee, Eric Kin Cheong Yau, Ho Ming Luk, Chloe Miu Mak, Matthew Chun Wing Yeung, Olivia Miu Yung Ngan

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Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell by Henry C. M. Leung, Huijing Yu, Yifan Zhang, Wing Sze Leung, Ivan F. M. Lo, Ho Ming Luk, Wai-Chun Law, Ka Kui Ma, Chak Lim Wong, Yat Sing Wong, Ruibang Luo, Tak-Wah Lam

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Fibrodysplasia ossificans progressiva in Hong Kong—A case report series by Joshua Chun Ki Chan, Evelyn Eugenie Kuong, Evelyn Eugenie Kuong, Joyce Pui Kwan Chan, Joyce Pui Kwan Chan, Ho Ming Luk, Jasmine Lee Fong Fung, Joanna Yuet-ling Tung, Joanna Yuet-ling Tung, Brian Hon Yin Chung, Brian Hon Yin Chung

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Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders by Ye Cao, Ye Cao, Ye Cao, Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Zirui Dong, Zirui Dong, Kwong Wai Choy, Kwong Wai Choy, Ivan Fai Man Lo

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Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong by Claudia Ching Yan Chung, Kelvin Yuen Kwong Chan, Pui Wah Hui, Patrick Kwok Cheung Au, Wai Keung Tam, Samuel Kai Man Li, Gordon Ka Chun Leung, Jasmine Lee Fong Fung, Marcus Chun Yin Chan, Ho Ming Luk, Annisa Shui Lam Mak, Kwok Yin Leung, Mary Hoi Yin Tang, Brian Hon Yin Chung, Anita Sik Yau Kan

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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

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

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