日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Excess folic acid intake increases DNA de novo point mutations

过量摄入叶酸会增加DNA新发点突变。

Cao, Xuanye; Xu, Jianfeng; Lin, Ying L; Cabrera, Robert M; Chen, Qiuying; Zhang, Chaofan; Steele, John W; Han, Xiao; Gross, Steven S; Wlodarczyk, Bogdan J; Lupski, James R; Li, Wei; Wang, Hongyan; Finnell, Richard H; Lei, Yunping

Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants

利用全外显子组评估孤立性胆道闭锁:一项来自国家出生缺陷预防研究的报告,该研究采用儿童-父母三联体和病例对照设计来识别新的罕见变异

Sok, Pagna; Sabo, Aniko; Almli, Lynn M; Jenkins, Mary M; Nembhard, Wendy N; Agopian, A J; Bamshad, Michael J; Blue, Elizabeth E; Brody, Lawrence C; Brown, Austin L; Browne, Marilyn L; Canfield, Mark A; Carmichael, Suzan L; Chong, Jessica X; Dugan-Perez, Shannon; Feldkamp, Marcia L; Finnell, Richard H; Gibbs, Richard A; Kay, Denise M; Lei, Yunping; Meng, Qingchang; Moore, Cynthia A; Mullikin, James C; Muzny, Donna; Olshan, Andrew F; Pangilinan, Faith; Reefhuis, Jennita; Romitti, Paul A; Schraw, Jeremy M; Shaw, Gary M; Werler, Martha M; Harpavat, Sanjiv; Lupo, Philip J

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

系统生物学对人类基因组的分析揭示了导致脊柱裂风险的关键通路。

Aguiar-Pulido, Vanessa; Wolujewicz, Paul; Martinez-Fundichely, Alexander; Elhaik, Eran; Thareja, Gaurav; Abdel Aleem, Alice; Chalhoub, Nader; Cuykendall, Tawny; Al-Zamer, Jamel; Lei, Yunping; El-Bashir, Haitham; Musser, James M; Al-Kaabi, Abdulla; Shaw, Gary M; Khurana, Ekta; Suhre, Karsten; Mason, Christopher E; Elemento, Olivier; Finnell, Richard H; Ross, M Elizabeth

Maternal Hypertension-Related Genotypes and Congenital Heart Defects

母体高血压相关基因型与先天性心脏缺陷

Lei, Yunping; Ludorf, Katherine L; Yu, Xiao; Benjamin, Renata H; Gu, Xue; Lin, Ying; Finnell, Richard H; Mitchell, Laura E; Musfee, Fadi I; Malik, Sadia; Canfield, Mark A; Morrison, Alanna C; Hobbs, Charlotte A; Van Zutphen, Alissa R; Fisher, Sarah; Agopian, A J

Gene Environment Interactions in the Etiology of Neural Tube Defects

基因与环境的相互作用在神经管缺陷病因学中的作用

Finnell, Richard H; Caiaffa, Carlo Donato; Kim, Sung-Eun; Lei, Yunping; Steele, John; Cao, Xuanye; Tukeman, Gabriel; Lin, Ying Linda; Cabrera, Robert M; Wlodarczyk, Bogdan J

Correction to: Genetic analysis of Wnt/PCP genes in neural tube defects

更正:神经管缺陷中 Wnt/PCP 基因的遗传分析

Chen, Zhongzhong; Lei, Yunping; Cao, Xuanye; Zheng, Yufang; Wang, Fang; Bao, Yihua; Peng, Rui; Finnell, Richard H; Zhang, Ting; Wang, Hongyan

Approaches to studying the genomic architecture of complex birth defects

研究复杂出生缺陷基因组结构的方法

Taiwo, Toluwani E; Cao, Xuanye; Cabrera, Robert M; Lei, Yunping; Finnell, Richard H

Dominant negative GPR161 rare variants are risk factors of human spina bifida

显性负性GPR161罕见变异是人类脊柱裂的风险因素

Kim, Sung-Eun; Lei, Yunping; Hwang, Sun-Hee; Wlodarczyk, Bogdan J; Mukhopadhyay, Saikat; Shaw, Gary M; Ross, M Elizabeth; Finnell, Richard H

Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13

中国人群的全基因组关联研究在12q13.13处发现了一个新的与尿道下裂风险相关的基因位点

Chen, Zhongzhong; Lin, Xiaoling; Lei, Yunping; Chen, Haitao; Finnell, Richard H; Wang, Yaping; Xu, Jianfeng; Lu, Daru; Xie, Hua; Chen, Fang

Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring

母体遗传标记与乳糜泻风险及其与后代神经管缺陷的潜在关联

Hoang, Thanh T; Lei, Yunping; Mitchell, Laura E; Sharma, Shreela V; Swartz, Michael D; Waller, D Kim; Finnell, Richard H; Benjamin, Renata H; Browne, Marilyn L; Canfield, Mark A; Lupo, Philip J; McKenzie, Paige; Shaw, Gary M; Agopian, A J