Qiongfen Lin

Qiongfen Lin

University of Hong Kong - Pok Fu Lam / Hong Kong
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5396012
香港大學
person_outline Qiongfen Lin's MOST POPULAR ARTICLES
1-) Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controlsY Yuan, Q Li, Y Su, Q Lin, X Gao, H Liu, S Huang, D Kang, NW Todd, ...European Journal of Human Genetics 28 (2), 231-243, 2020362020
2-) Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing lossX Gao, YY Yuan, QF Lin, JC Xu, WQ Wang, YH Qiao, DY Kang, D Bai, ...Journal of medical genetics 55 (5), 298-306, 2018252018
3-) Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1P Hu, S Wu, L Yuan, Q Lin, W Zheng, H Xia, H Xu, L Guan, H DengJournal of cellular and molecular medicine 21 (7), 1388-1393, 2017252017
4-) Further evidence for “gain-of-function” mechanism of DFNA5 related hearing lossH Wang, J Guan, L Guan, J Yang, K Wu, Q Lin, W Xiong, L Lan, C Zhao, ...Scientific reports 8 (1), 8424, 2018242018
5-) Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type Ic using exome sequencingH Deng, T Tan, Q He, Q Lin, Z Yang, A Zhu, L Guan, J Xiao, Z Song, ...Molecular medicine reports 16 (1), 473-477, 2017172017