| Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls Y 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, 2020 | 37 | 2020 |
| Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1 P Hu, S Wu, L Yuan, Q Lin, W Zheng, H Xia, H Xu, L Guan, H Deng Journal of cellular and molecular medicine 21 (7), 1388-1393, 2017 | 25 | 2017 |
| Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss X Gao, YY Yuan, QF Lin, JC Xu, WQ Wang, YH Qiao, DY Kang, D Bai, ... Journal of medical genetics 55 (5), 298-306, 2018 | 24 | 2018 |
| Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss H Wang, J Guan, L Guan, J Yang, K Wu, Q Lin, W Xiong, L Lan, C Zhao, ... Scientific reports 8 (1), 8424, 2018 | 22 | 2018 |
| Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type Ic using exome sequencing H Deng, T Tan, Q He, Q Lin, Z Yang, A Zhu, L Guan, J Xiao, Z Song, ... Molecular medicine reports 16 (1), 473-477, 2017 | 17 | 2017 |
| Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing L Yuan, J Yi, Q Lin, H Xu, X Deng, W Xiong, J Xiao, C Jiang, X Yuan, ... QJM: An International Journal of Medicine 109 (11), 731-735, 2016 | 15 | 2016 |
| Whole exome sequencing identifies a novel mutation in the PITX3 gene, causing autosomal dominant congenital cataracts in a Chinese family H Liu, H Liu, J Tang, Q Lin, Y Sun, C Wang, H Yang, MR Khan, ... Annals of Clinical & Laboratory Science 47 (1), 92-95, 2017 | 13 | 2017 |
| Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing H Deng, Q Lu, H Xu, X Deng, L Yuan, Z Yang, Y Guo, Q Lin, J Xiao, ... PLoS One 11 (5), e0155908, 2016 | 13 | 2016 |
| Identified OAS 3 gene variants associated with coexistence of HB sAg and anti‐HB s in chronic HBV infection S Wang, J Wang, MJ Fan, TY Li, H Pan, X Wang, HK Liu, QF Lin, ... Journal of viral hepatitis 25 (8), 904-910, 2018 | 12 | 2018 |
| Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors CSM Tang, M Mononen, WY Lam, SC Jin, X Zhuang, MM Garcia-Barcelo, ... JCI insight 7 (2), 2022 | 9 | 2022 |
| Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome L Wang, QF Lin, HY Wang, J Guan, L Lan, LY Xie, L Yu, J Yang, C Zhao, ... Chinese Medical Journal 130 (06), 703-709, 2017 | 8 | 2017 |
| Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases Q Lin, PKH Tam, CSM Tang Frontiers in Pediatrics 11, 1203289, 2023 | 2 | 2023 |
| Mining risk regulatory variants of Tetralogy of Fallot using deep learning models Q Lin, H Hong, PJ Gruber, SM Tang, K Chien, PKH Tam ASHG Virtual Meeting October 18-22, 2021: American Society of Human Genetics …, 2021 | | 2021 |
| Genome-wide association analysis implicates dysregulation of Wnt signaling pathway in biliary atresia SM Tang, WY Lam, Q Lin, MM Garcia-Barcelo, PKH Tam The 71st Annual Meeting of the American Society of Human Genetics (Virtual …, 2021 | | 2021 |
| 不同数量的 2kD 富苯丙氨酸碱性短肽 (BOP) 和乙醇酸氧化酶结合 陈雪敏， 林琼芬， 林子衍， 林巧贤， 王海风， 夏明航， 朱琳， 郑冬阳， 漆亚乔， ... 中国生物化学与分子生物学报 29 (3), 276-284, 2013 | | 2013 |
