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Human Genetics 封面图

Human Genetics

IF3.6
论文数4797
被引数8857
期刊论文 4797
发表时间
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The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects全国叶酸强化对圆锥动脉干心脏缺陷相关遗传变异的影响
deleteHuman Genetics
IF3.6
delete2026-10-22
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deleteOAAI
deleteSarah U. Morton; Enrique Mondragon-Estrada; Rui Qian; Omobola O. Oluwafemi; Kit Sing Au; Hope Northrup; Wendy K. Chung; A. J. Agopian; Tina O. Findley
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A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals1,040名中国个体认知障碍的全基因组关联研究
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IF3.6
delete2026-10-17
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deleteMaggie Haitian Wang; Yexian Zhang; Rui Sun; Fudong Li; Tao Zhang; Xue Gu; Jingzhi Lou; Lirong Cao; Shimin Su; Hong Zheng; Caiqi Liu; Marc Ka Chun Chong; William Ka Kei Wu; Jun Yu; Benny Chung-Ying Zee; Junfen Lin
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Gene-based association analysis of depression risk among European ancestry Parkinson’s disease patients基于基因的欧洲血统帕金森病患者中抑郁症风险的关联分析
deleteHuman Genetics
IF3.6
delete2026-10-17
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deleteHanwen Wang; Kimberly Paul; Cynthia Kusters; Christina M. Lill; Jin Zhou; Jeff Bronstein; Beate Ritz
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Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics临床细胞遗传学中观察者间可靠性及染色体结构异型的数字形态测量表征
deleteHuman Genetics
IF3.6
delete2026-10-17
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PREAI
deleteOmar Casadiego; Jennifer Castro; Aura Mantilla; Thomas Vanegas; Nathaly Ramírez-García; Laura Fernanda Neira Fuentes; Norma Serrano
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Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants巴基斯坦队列中伴有或不伴有骨骼发育不全的家族性矮身材特征分析揭示了始祖突变以及新变异
deleteHuman Genetics
IF3.6
delete2026-10-14
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PREAI
deleteTayyaba Ishaq; Amatul Raqeeb Jawaid; Samina Yasin; Noor ul Ain; Ambreen Faryal; Memoona Shaukat; Muhammad Noman; Niaz Muhammad; Muddassar Iqbal; Fatema Alzahrani; Anum Shafique; Rimsha Zulfiqar; Ambreen Kanwal; Fowzan S. Alkuraya; Elizabeth Wohler; Nara Sobreira; Go Hun Seo; Outi Makitie; Sadaf Naz
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Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island地理屏障促进了新几内亚岛母系和父系谱系的多样性
deleteHuman Genetics
IF3.6
delete2026-10-09
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deleteMariko Isshiki; Augustinus Soemantri; Ryutaro Ohtsuka; Minato Nakazawa; Takafumi Ishida; Jun Ohashi
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Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients80例埃及患者先天性糖基化障碍的临床与分子谱
deleteHuman Genetics
IF3.6
delete2026-10-09
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PREAI
deleteMohamed S. Abdel-Hamid; Sherif F. Abdel-Ghafar; Mahmoud Y. Issa; Walaa ElNaggar; Hasnaa M. Elbendary; Karima Rafat; Nagwa Gaboon; Mahmoud M. Noureldeen; Ziad N. Rezk; Nour Elkhateeb; Laila Selim; Joseph G. Gleeson; Maha S. Zaki
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Annual average exposure to ambient air pollution, polygenic risk, and incidence of major chronic diseases: a large-scale prospective cohort study长期暴露于环境空气污染、多基因风险与主要慢性病发病率的关联：一项大规模前瞻性队列研究
deleteHuman Genetics
IF3.6
delete2026-10-05
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deleteJing Tian; Sicong Wang; Xinyi Chang; Yi Han
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Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China中国严重联合免疫缺陷的临床、免疫学和分子特征
deleteHuman Genetics
IF3.6
delete2026-09-26
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PREAI
deleteFeifan Xiao; Qinhua Zhou; Chenghao Wang; Haili Yao; Jia Hou; Bijun Sun; Wenjing Ying; Xiaoying Hui; Lipin Liu; Liangyan Zou; Luyao Liu; Ying Wang; Xiaowen Qian; Xiaowen Zhai; Bingbing Wu; Wenhao Zhou; Jinqiao Sun; Wenjie Wang; Xiaochuan Wang
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Association of apolipoprotein E gene with risk, cognition, and prognosis of epilepsy载脂蛋白E基因与癫痫风险、认知功能和预后的关联
deleteHuman Genetics
IF3.6
delete2026-09-26
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PREAI
deleteShengyi Liu; Lingjie Fan; Zihua He; Tong Yi; Jiaqi Wang; Junhan Zhao; Josemir W. Sander; Dong Zhou; Jinmei Li
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A case-control study on IL-8 gene polymorphisms and serum IL-8 levels in patients with age-related macular degeneration in India印度年龄相关性黄斑变性患者中IL-8基因多态性与血清IL-8水平的病例对照研究
deleteHuman Genetics
IF3.6
delete2026-09-26
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PREAI
deleteAnshu Yadav; Jitender Phogat; Manoj Yadav; Aarti Bhardwaj; Vishal Panghal; Supreme Goel; Mamta Verma; Sapna Sharma; Mayank Singh; Rakesh Kumar; Mukesh Tanwar
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Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling线粒体功能障碍驱动Gitelman综合征中的代谢重编程：来自蛋白质组学和同源建模的见解
deleteHuman Genetics
IF3.6
delete2026-09-21
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deleteHonghan Zhang; Wenqian Zhao; Lanxin Ma; Xueli Yang; Jinghua Gao; Xiaoling Liu; Y.-G. Xie; Ying Hu; Heng Luo; Jian Han
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Polygenic risk scores in human genetics for study design discovery and translation人类遗传学中的多基因风险评分用于研究设计发现和转化
deleteHuman Genetics
IF3.6
delete2026-09-19
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deleteHui-Qi Qu; Hakon Hakonarson
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Genetic variation in BDNF is associated with opioid use disorder severityBDNF基因变异与阿片类药物使用障碍严重程度相关
deleteHuman Genetics
IF3.6
delete2026-09-19
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deleteDara M. Kusic; Matthew Salzman; Jessica Heil; Struan F. A. Grant; Khanh B. Trang; Stefan Zajic; Jozef Madzo; Christian Brown; Jaroslav Jelinek; Gennaro Calendo; Roland Schwarting; Jean-Pierre J. Issa; Laura B. Scheinfeldt
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Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders光学基因组作图提高了综合征性遗传病和神经遗传病中结构变异的检测与表征
deleteHuman Genetics
IF3.6
delete2026-09-10
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deleteRosa Catalina Lederbogen; Sabine Hoffjan; Cornelia Köhler; Charlotte Thiels; Ulrike Angelika Mau-Holzmann; Sylke Singer; Sabrina Schreiber; Anne Purczeld; Rebecca Buchert; Maria Viktorovna Yusenko; Hoa Huu Phuc Nguyen; Wanda Maria Gerding
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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation开发针对RS1特异性ACMG/AMP变异分类标准的试点变异筛选
deleteHuman Genetics
IF3.6
delete2026-09-04
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deleteSarah Hull; M. Mero; W. Hankey; K. Lee; L. S. Sullivan; R. Ayyagari; M. D. Benson; L. Haer-Wigman; R. B. Hufnagel; H. M. J. Hussain; K. Kämpjärvi; P. A. Sieving; M. Wang; G. Wang; C. Zeitz; R. A. Lewis; R. Chen; K. C. Worley
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Integrating genetic, historical, and demographic evidence to reconstruct Argentina’s matrilineal ancestry整合遗传、历史和人口学证据以重建阿根廷的母系祖先
deleteHuman Genetics
IF3.6
delete2026-08-30
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PREAI
deleteF. Gagliardi; R. Fernández; V. Genoud; F. Picado; S. Biagini; N. Furman; M. Herrera Piñero; A. C. Mayordomo
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From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort从靶向SCN1A分析到全外显子测序：匈牙利儿科癫痫队列的临床应用和新遗传发现
deleteHuman Genetics
IF3.6
delete2026-08-29
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deleteRenata Szalai; Agnes Till; Krisztina Galimurka; Zsolt Banfai; Anna Zsigmond; Kinga Hadzsiev
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Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer转移性前列腺癌中遗传咨询和生殖系基因检测的预期成本与效益
deleteHuman Genetics
IF3.6
delete2026-08-29
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deleteMichiel Vlaming; Lambertus A. L. M. Kiemeney; Wouter Koole; Inge M. van Oort; Eveline M. A. Bleiker; Margreet G. E. M. Ausems; Geert W. J. Frederix
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Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China历史金陵南人群的基因组特征：对东亚遗传连续性和跨欧亚信号的认识
deleteHuman Genetics
IF3.6
delete2026-08-25
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PREAI
deleteShuyi Li; Yuchun Wang; Qu Shen; Jinguo Zan; Mengying Han; Zishuai Huang; Rui Wang; Xinyi Wang; Haifeng He; Le Tao; Hao Ma; Kongyang Zhu; Yetao Zou; Huangzhen Huang; Haodong Chen; Li Jin; Hui Li; Chuan-Chao Wang
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