Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

por 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.
Publicado 2022

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis

por Yu, Mullin Ho Chung, Chau, Jeffrey Fong Ting, Au, Sandy Leung Kuen, Lo, Hei Man, Yeung, Kit San, Fung, Jasmine Lee Fong, Mak, Christopher Chun Yu, Chung, Claudia Ching Yan, Chan, Kelvin Yuen Kwong, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Publicado 2021

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

por 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
Publicado 2022