A random forest-based framework for genotyping and accuracy assessment of copy number variations

por Zhuang, Xuehan, Ye, Rui, So, Man-Ting, Lam, Wai-Yee, Karim, Anwarul, Yu, Michelle, Ngo, Ngoc Diem, Cherny, Stacey S, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè, Tang, Clara Sze-man, Sham, Pak Chung
Publicado 2020

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors

por Tang, Clara Sze Man, Mononen, Mimmi, Lam, Wai-Yee, Jin, Sheng Chih, Zhuang, Xuehan, Garcia-Barcelo, Maria-Mercè, Lin, Qiongfen, Yang, Yujia, Sahara, Makoto, Eroglu, Elif, Chien, Kenneth R., Hong, Haifa, Tam, Paul Kwong Hang, Gruber, Peter J.
Publicado 2022

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

por Lam, Wai-Yee, Tang, Clara Sze-Man, So, Man-Ting, Yue, Haibing, Hsu, Jacob Shujui, Chung, Patrick Ho-Yu, Nicholls, John M., Yeung, Fanny, Lee, Chun-Wai Davy, Ngo, Diem Ngoc, Nguyen, Pham Anh Hoa, Mitchison, Hannah M., Jenkins, Dagan, O'Callaghan, Christopher, Garcia-Barceló, Maria-Mercè, Lee, So-Lun, Sham, Pak-Chung, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang
Publicado 2021