Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept von Lee, Mianne, Kwong, Anna K. Y., Chui, Martin M. C., Chau, Jeffrey F. T., Mak, Christopher C. Y., Au, Sandy L. K., Lo, Hei Man, Chan, Kelvin Y. K., Yépez, Vicente A., Gagneur, Julien, Kan, Anita S. Y., Chung, Brian H. Y.

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Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses von Chui, Martin M C, Mak, Christopher C Y, Yu, Mullin H C, Wong, Sandra Y Y, Lun, Kin-Shing, Yung, Tak-Cheung, Kwong, Anna K Y, Chow, Pak-Cheong, Chung, Brian H Y

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Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report von Kong, C W, Li, Y Y, Au, S L K, Kan, A S Y, Chui, M M C, Chung, B H Y, Ho, Y C, To, W W K

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Whole genome sequencing in paediatric channelopathy and cardiomyopathy von Kwok, Sit Yee, Kwong, Anna Ka Yee, Shi, Julia Zhuo, Shih, Connie Fong Ying, Lee, Mianne, Mak, Christopher C Y, Chui, Martin, Tsao, Sabrina, Chung, Brian Hon Yin

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A programmable integrated digital controller for switching converters with dual-band switching and complex pole-zero compensation von Chui, M.Y.-K., Wing-Hung Ki, Chi-Ying Tsui

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O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors von Klinkhammer, Hannah, Lesmann, Hellen, Moosa, Shahida, Hustinx, Alexander, Javanmardi, Behnam, Li, Jing-Mei, Chui, Martin M.C., Mak, Christopher C.Y., Averdunk, Luisa, Distelmaier, Felix, Hon-Yin Chung, Brian, Krawitz, Peter, Hsieh, Tzung-Chien

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Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment von Lai, Sophie H.Y., Duque, Jaime S. Rosa, Chung, Brian Hon-Yin, Chung, Tom Wai-Hin, Leung, Daniel, Ho, Ronnie Siu-Lun, Lee, Raymand, Poon, Rosana W.S., Chua, Gilbert T., Cheong, Kai-Ning, Chui, Martin Man Chun, Lee, Mianne, Tam, Sidney, Him, Andrew Ho Cheuk, Cheng, King-Fai, Ho, Wilson Wai-Shing, Yuen, Kwok-Yung, Lee, Pamela, Lau, Yu-Lung

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O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis von Hon-Yin Chung, Brian, Yee Kwong, Anna Ka, Chun Chui, Martin Man, CY Mak, Christopher, Scheller, Ines, Suet-Na Wong, Sheila, Fung, Cheuk-Wing, Yépez, Vicente

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Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis von Chau, Jeffrey Fong Ting, Lee, Mianne, Chui, Martin Man Chun, Yu, Mullin Ho Chung, Fung, Jasmine Lee Fong, Mak, Christopher Chun Yu, Chau, Christy Shuk-Kuen, Siu, Ka Ka, Hung, Jacqueline, Yeung, Kit San, Kwong, Anna Ka Yee, O'Callaghan, Christopher, Lau, Yu Lung, Lee, Chun-Wai Davy, Chung, Brian Hon-Yin, Lee, So-Lun

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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature von Booth, Kevin, Jangam, Sharayu, Man Chun Chui, Martin, Treat, Kayla, Graziani, Lorenzo, Soldano, Alessia, White, Kerry, Christensen, Celanie, Lynnes, Ty, Yamamoto, Shinya, Kanca, Oguz, Tsang, Mandy, Lynch, Sally, Mullegama, Sureni, Baptista, Julia, Iancu, Daniela, Joss, Shelag, CY Mak, Christopher, Kwong, Anna, Bellen, Hugo, Conboy, Erin, Sanges, Remo, Wangler, Michael F., Hon-Yin Chung, Brian, Vetrini, Francesco

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

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Abstract 14506: Re-Evaluating Clinically Relevant Genes in Conotruncal Cardiac Defects by Burden Analyses of Rare and Ultra-Rare Protein-Altering Variants von Chui, Martin Man Chun, Mak, Christopher C.Y., Yu, Mullin, Chau, Fong Ting Jeffrey, Lun, K.S., Yung, T.C., Kwong, Anna K.Y., Chow, Pak-cheong, Chung, Brian H.Y.

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PO-03-148 WHOLE GENOME SEQUENCING IN PEDIATRIC CHANNELOPATHY AND CARDIOMYOPATHY von Kwok, Sit-Yee, Shi, Julia Z., Kwong, Anna K., Shih, Fong-Ying, Leung, Hei To, Lee, Mianne, Mak, Christopher, Chui, Martin, Chen, Robin H., Lun, Kin-Shing, Yung, Tak-Cheung, Tsao, Sabrina S., Hon-Yin Chung, Brian

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eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia von Treat, Kayla, Jangam, Sharayu, Yamamoto, Shinya, White, Kerry, Kanca, Oguz, Christensen, Celanie, Lynch, Sally, Baptista, Julia, Tsang, Mandy HY, Jay, Kristy, Chung, Brian HY, Yuen, Liz YP, Chui, Martin MC, Bellen, Hugo, Wangler, Michael, Conboy, Erin, Vetrini, Francesco

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Measurement of the Porous Microstructure of Hydrogels by Nuclear Magnetic Resonance von Chui, Martin M., Phillips, Ronald J., McCarthy, Michael J.

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SYSTEM AND METHOD FOR PLAYING LICENSED MUSIC BASED ON BLUETOOTH COMMUNICATION CROSS-REFERENCE TO RELATED APPLICATION von GAO Mingkun, CHUI Martin

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

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Method for Bluetooth mode switching, Bluetooth system and electronic device von Fu, Yunhe, Wang, Mid, Chui, Martin Yeung-Kei

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Method and system for bluetooth communication, and electronic device von Fu, Yunhe, Wang, Mid, Chui, Martin Yeung-Kei

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METHOD AND SYSTEM FOR BLUETOOTH COMMUNICATION, AND ELECTRONIC DEVICE von Fu, Yunhe, Wang, Mid, Chui, Martin Yeung-Kei

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