| TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, ... New England Journal of Medicine 372 (4), 341-350, 2015 | 303 | 2015 |
| TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene … J Liu, N Wu, ... Genetics in Medicine 21 (7), 1548-1558, 2019 | 69 | 2019 |
| TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice N Yang, N Wu, L Zhang, Y Zhao, J Liu, X Liang, X Ren, W Li, W Chen, ... Human molecular genetics 28 (4), 539-547, 2019 | 57 | 2019 |
| Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration JZ Chuang, N Yang, N Nakajima, W Otsu, C Fu, HH Yang, MP Lee, ... Nature communications 13 (1), 374, 2022 | 29 | 2022 |
| Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11. 2 microdeletion syndrome N Yang, N Wu, S Dong, L Zhang, Y Zhao, W Chen, R Du, C Song, X Ren, ... Kidney international 98 (4), 1020-1030, 2020 | 28 | 2020 |
| Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice X Ren, N Yang, N Wu, X Xu, W Chen, L Zhang, Y Li, RQ Du, S Dong, ... Journal of medical genetics 57 (6), 371-379, 2020 | 27 | 2020 |
| Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies L Wang, Y Zhang, X Fu, S Dong, S Tang, N Zhang, C Song, N Yang, ... Cell Research 30 (1), 91-94, 2020 | 17 | 2020 |
| Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract S Dong, C Wang, X Li, Q Shen, X Fu, M Wu, C Song, N Yang, Y Wu, ... Molecular Genetics and Genomics 294, 493-500, 2019 | 10 | 2019 |
| A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability L Zhang, X Xu, K Sun, J Sun, Y Wang, Y Liu, N Yang, C Tao, B Cai, G Shi, ... American Journal of Medical Genetics Part A 179 (6), 936-939, 2019 | 7 | 2019 |
| Mutant mice with rod-specific VPS35 deletion exhibit retinal α-synuclein pathology-associated degeneration C Fu, N Yang, JZ Chuang, N Nakajima, S Iraha, N Roy, Z Wu, Z Jiang, ... Nature Communications 15 (1), 5970, 2024 | 2 | 2024 |
| Perturbation of endocytic trafficking in rods causes retinitis pigmentosa-like phenotypes and non-A2E lipofuscin accumulation CH Sung, C Fu, N Yang, N Nakajima, S Iraha, N Roy, W Otsu, Z Jiang, ... Investigative Ophthalmology & Visual Science 65 (7), 4772-4772, 2024 | | 2024 |
Li JinProfessor of Genetics, Fudan University在 fudan.edu.cn 的电子邮件经过验证
