| Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ... Nature genetics 41 (2), 228-233, 2009 | 213 | 2009 |
| Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract T Zhang, R Hua, W Xiao, KP Burdon, SS Bhattacharya, JE Craig, D Shang, ... Human mutation 30 (5), E603-E611, 2009 | 118 | 2009 |
| Leptin and coronary heart disease: a systematic review and meta-analysis SB Chai, F Sun, XL Nie, J Wang Atherosclerosis 233 (1), 3-10, 2014 | 96 | 2014 |
| Copy-number mutations on chromosome 17q24. 2-q24. 3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia M Sun, N Li, W Dong, Z Chen, Q Liu, Y Xu, G He, Y Shi, X Li, J Hao, Y Luo, ... The American Journal of Human Genetics 84 (6), 807-813, 2009 | 77 | 2009 |
| Non‐invasive prenatal diagnostic testing for β‐thalassaemia using cell‐free fetal DNA and next generation sequencing L Xiong, AN Barrett, R Hua, TZ Tan, SSY Ho, JKY Chan, M Zhong, ... Prenatal Diagnosis 35 (3), 258-265, 2015 | 67 | 2015 |
| A novel prostate cancer therapeutic strategy using icaritin-activated arylhydrocarbon-receptor to co-target androgen receptor and its splice variants F Sun, IR Indran, ZW Zhang, MHE Tan, Y Li, ZLR Lim, R Hua, C Yang, ... Carcinogenesis 36 (7), 757-768, 2015 | 62 | 2015 |
| Human cataract mutations in EPHA2 SAM domain alter receptor stability and function JE Park, AI Son, R Hua, L Wang, X Zhang, R Zhou PloS one 7 (5), e36564, 2012 | 52 | 2012 |
| Non‐invasive prenatal testing for fetal inheritance of maternal β‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study L Xiong, AN Barrett, R Hua, SSY Ho, L Jun, KCA Chan, Z Mei, M Choolani BJOG: An International Journal of Obstetrics & Gynaecology 125 (4), 461-468, 2018 | 40 | 2018 |
| Chronic exposure to mono‐(2‐ethylhexyl)‐phthalate causes endocrine disruption and reproductive dysfunction in zebrafish Y Zhu, R Hua, Y Zhou, H Li, S Quan, Y Yu Environmental toxicology and chemistry 35 (8), 2117-2124, 2016 | 35 | 2016 |
| Measurement of fetal fraction in cell-free DNA from maternal plasma using a panel of insertion/deletion polymorphisms AN Barrett, LI Xiong, TZ Tan, HV Advani, R Hua, C Laureano-Asibal, ... PLoS One 12 (10), e0186771, 2017 | 26 | 2017 |
| Detection of aneuploidy from single fetal nucleated red blood cells using whole genome sequencing R Hua, AN Barrett, TZ Tan, Z Huang, AP Mahyuddin, S Ponnusamy, ... Prenatal Diagnosis 35 (7), 637-644, 2015 | 26 | 2015 |
| 长方案垂体降调节行 IVF-ET 时雌二醇水平变化的意义 倪郝， 陈雷宁， 全松， 李红， 华芮， 高瑞花， 陈思梅， 罗琛 南方医科大学学报 31 (2), 365-368, 2011 | 16 | 2011 |
| Three novel mutations of the EDA gene in Chinese patients with X‐linked hypohidrotic ectodermal dysplasia J Zhao, R Hua, X Zhao, Y Meng, Y Ao, Q Liu, D Shang, M Sun, WHY Lo, ... British Journal of Dermatology 158 (3), 614-617, 2008 | 14 | 2008 |
| 基础窦卵泡数与高生育年龄患者 IVF/ICSI-ET 结局的关系及经济学评价 倪郝， 陈雷宁， 李红， 邱卓琳， 华芮， 高瑞花， 谭洪川， 贺玲， 全松 实用妇产科杂志 28 (2), 124-127, 2012 | 4 | 2012 |
| 眼脑肾综合征一家系的 OCRL 基因致病突变检测 华芮， 杨威， 孙念怙， 张学 中华眼科杂志 47 (9), 801-805, 2011 | 3 | 2011 |
| 我国诺里病家系 NDP 基因的突变分析 张天晓， 赵秀丽， 华芮， 张劲松， 张学 中华眼科杂志 48 (9), 815-818, 2012 | 2 | 2012 |
| 常染色体显性遗传核性白内障合并小角膜的 CRYAA 基因突变研究 梁小芳， 肖伟， 石磊， 华芮， 张学 中华眼科杂志 47 (4), 310-313, 2011 | 2 | 2011 |
| Erratum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (Nature Genetics (2009) 41 (228-233)) Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ... Nature Genetics 41 (6), 762, 2009 | 2 | 2009 |
| 一常染色体显性遗传性白内障家系致病基因的排除性定位 梁小芳， 华芮， 石磊， 肖伟 眼科研究 28 (8), 745-748, 2010 | 1 | 2010 |
| 野生型 ADAR1 蛋白与其 R916W 突变体在哺乳动物细胞中相互作用的研究 刘扬， 柳青， 赵谨， 吕丹， 华芮， 罗阳， 张学 山东大学学报: 医学版 45 (5), 450-454, 2007 | 1 | 2007 |
Xue ZhangProfessor of Medical Genetics, Peking Union Medical CollegeVerified email at pumc.edu.cn
