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

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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants by Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung

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

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Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients by Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan

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