Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations
Chung, Claudia C.Y., Hue, Shirley P.Y., Ng, Nicole Y.T., Doong, Phoenix H.L., Chu, Annie T.W., Chung, Brian H.Y.
Published in Genetics in medicine (01.09.2023)
Published in Genetics in medicine (01.09.2023)
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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Lee, Mianne, Lui, Adrian C. Y., Chan, Joshua C. K., Doong, Phoenix H. L., Kwong, Anna K. Y., Mak, Christopher C. Y., Li, Raymond H. W., Kan, Anita S. Y., Chung, Brian H. Y.
Published in Human genomics (05.10.2023)
Published in Human genomics (05.10.2023)
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