Qiongfen Lin

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

Yongyi Yuan, Qi Li, Yu Su et al. · European Journal of Human Genetics · 2019 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Hongyang Wang, Jing Guan, Liping Guan et al. · Scientific Reports · 2018 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Compound heterozygous <i><scp>POMT</scp>1</i> mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

Pengzhi Hu, Song Wu, Lamei Yuan et al. · Journal of Cellular and Molecular Medicine · 2017 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutation of <i>IFNLR1</i>, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss

Xue Gao, Qiongfen Lin, Jin‐Cao Xu et al. · Journal of Medical Genetics · 2018 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Clara Sze-Man Tang, Mimmi Mononen, Wai-Yee Lam et al. · JCI Insight · 2021 · 16 citations · Full text

Life Sciences, Cardiology, Genetics +17