Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases

por Lin, Qiongfen, Tam, Paul Kwong-Hang, Tang, Clara Sze-Man
Publicado 2023

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

por Hu, Pengzhi, Wu, Song, Yuan, Lamei, Lin, Qiongfen, Zheng, Wen, Xia, Hong, Xu, Hongbo, Guan, Liping, Deng, Hao
Publicado 2017

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

por Deng, Hao, Lu, Qian, Xu, Hongbo, Deng, Xiong, Yuan, Lamei, Yang, Zhijian, Guo, Yi, Lin, Qiongfen, Xiao, Jingjing, Guan, Liping, Song, Zhi
Publicado 2016

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

por Yuan, Yongyi, Li, Qi, Su, Yu, Lin, Qiongfen, Gao, Xue, Liu, Hankui, Huang, Shasha, Kang, Dongyang, Todd, N. Wendell, Mattox, Douglas, Zhang, Jianguo, Lin, Xi, Dai, Pu
Publicado 2019

Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss

por Wang, Hongyang, Guan, Jing, Guan, Liping, Yang, Ju, Wu, Kaiwen, Lin, Qiongfen, Xiong, Wenping, Lan, Lan, Zhao, Cui, Xie, Linyi, Yu, Lan, Dan Bing, Zhao, Lidong, Wang, Dayong, Wang, Qiuju
Publicado 2018

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