A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders by Wenjuan Zhu, Chen Wang, Nandita Mullapudi, Yanan Cao, Lin Li, Ivan Fai Man Lo, Stephen Kwok-Wing Tsui, Xiao Chen, Yong Lei, Shen Gu

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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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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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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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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey by Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung

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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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