| Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing XF Huang, F Huang, KC Wu, J Wu, J Chen, CP Pang, F Lu, J Qu, ZB Jin Genetics in Medicine 17 (4), 271, 2015 | 219 | 2015 |
| Genetic signatures of high-altitude adaptation in Tibetans J Yang, ZB Jin, J Chen, XF Huang, XM Li, YB Liang, JY Mao, X Chen, ... Proceedings of the National Academy of Sciences 114 (16), 4189-4194, 2017 | 210 | 2017 |
| SLC7A14 linked to autosomal recessive retinitis pigmentosa ZB Jin, XF Huang, JN Lv, L Xiang, DQ Li, J Chen, C Huang, J Wu, F Lu, ... Nature communications 5 (1), 3517, 2014 | 94 | 2014 |
| Trio-based exome sequencing arrests de novo mutations in early-onset high myopia ZB Jin, J Wu, XF Huang, CY Feng, XB Cai, JY Mao, L Xiang, KC Wu, ... Proceedings of the National Academy of Sciences 114 (16), 4219-4224, 2017 | 93 | 2017 |
| Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing XF Huang, J Wu, JN Lv, X Zhang, ZB Jin Genetics in Medicine 17 (4), 307, 2015 | 76 | 2015 |
| Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families XF Huang, P Xiang, J Chen, DJ Xing, NA Huang, Q Min, F Gu, Y Tong, ... PloS one 8 (5), e63832, 2013 | 76 | 2013 |
| Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy FQ Rao, XB Cai, FF Cheng, W Cheng, XL Fang, N Li, XF Huang, LH Li, ... Investigative Ophthalmology & Visual Science 58 (5), 2623-2629, 2017 | 68 | 2017 |
| ‘RetinoGenetics’: a comprehensive mutation database for genes related to inherited retinal degeneration X Ran, WJ Cai, XF Huang, Q Liu, F Lu, J Qu, J Wu, ZB Jin Database 2014, bau047, 2014 | 63 | 2014 |
| Periodontal disease increases the host susceptibility to COVID-19 and its severity: a Mendelian randomization study Y Wang, H Deng, Y Pan, L Jin, R Hu, Y Lu, W Deng, W Sun, C Chen, ... Journal of translational medicine 19, 1-9, 2021 | 49 | 2021 |
| Genomewide association study of acute anterior uveitis identifies new susceptibility loci XF Huang, Z Li, E De Guzman, P Robinson, L Gensler, MM Ward, ... Investigative Ophthalmology & Visual Science 61 (6), 3-3, 2020 | 48 | 2020 |
| Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing DJ Xing, HX Zhang, N Huang, KC Wu, XF Huang, F Huang, Y Tong, ... PloS one 9 (3), e90599, 2014 | 48 | 2014 |
| Progress in the genetics of uveitis XF Huang, MA Brown Genes & Immunity 23 (2), 57-65, 2022 | 37 | 2022 |
| REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival S Veleri, J Nellissery, B Mishra, SH Manjunath, MJ Brooks, L Dong, ... Human molecular genetics 26 (12), 2218-2230, 2017 | 30 | 2017 |
| Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract XF Huang, L Xiang, W Cheng, FF Cheng, KW He, BW Zhang, SS Zheng, ... Experimental & molecular medicine 50 (4), 1-11, 2018 | 29 | 2018 |
| Genome-wide detection of copy number variations in unsolved inherited retinal disease XF Huang, JY Mao, ZQ Huang, FQ Rao, FF Cheng, FF Li, QF Wang, ... Investigative ophthalmology & visual science 58 (1), 424-429, 2017 | 25 | 2017 |
| Causal relationships between glycemic traits and myopia FF Li, MC Zhu, YL Shao, F Lu, QY Yi, XF Huang Investigative Ophthalmology & Visual Science 64 (3), 7-7, 2023 | 24 | 2023 |
| Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa XF Huang, L Xiang, XL Fang, WQ Liu, YY Zhuang, ZJ Chen, RJ Shen, ... Human Mutation 40 (8), 1039-1045, 2019 | 24 | 2019 |
| CFI-rs7356506 is a genetic protective factor for acute anterior uveitis in Chinese patients Y Wang, XF Huang, MM Yang, WJ Cai, MQ Zheng, G Mao, CP Pang, ... British Journal of Ophthalmology 98 (11), 1592-1596, 2014 | 23 | 2014 |
| Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families B Lin, XB Cai, ZL Zheng, XF Huang, XL Liu, J Qu, ZB Jin Scientific Reports 6 (1), 35414, 2016 | 21 | 2016 |
| Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations XF Huang, ZQ Huang, D Lin, ML Dai, QF Wang, ZJ Chen, ZB Jin, Y Wang Scientific reports 7 (1), 9064, 2017 | 17 | 2017 |
