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Human Genomics 封面图

Human Genomics

IF4.3
论文数1274
被引数2604
期刊论文 1274
发表时间
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Cross-tissue transcriptomic analysis identifies molecular signatures of GPR143 deficiency in ocular albinism type 1跨组织转录组学分析鉴定了眼白化病1型中GPR143缺乏的分子特征
deleteHuman Genomics
IF4.3
delete2026-10-29
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deleteQiaohua Li; Jiajie Wang; Jinying Yan; Jin He; Jingxing Gao; Suyun Li; Jinman Zhang; Baosheng Zhu; Yan Mei; Hong Shi
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Genome-wide association study identifies age-related genetic effects on childhood refractive error and myopia risk全基因组关联研究确定了与年龄相关的遗传效应对儿童屈光不正和近视风险的影响
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IF4.3
delete2026-10-28
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deleteYuyao Wang; Yuelan Gao; Danli Shi; Yuen Ting Ho; Yuzhou Zhang; Charlene C. Yim; Ka Wai Kam; Alvin L. Young; Clement C. Tham; Chi Pui Pang; Mingguang He; Jason C. Yam; Li Jia Chen
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GED-DMpred: prediction of pathogenic missense mutations in genetic eye diseases using a two-step strategyGED-DMpred：基于两步策略预测遗传性眼病中的致病性错义突变
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IF4.3
delete2026-10-26
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deleteBing Zeng; Dongcheng Liu; Siting Zhou; Zhonghui Cui; Bo Qin; Weiwei Dai
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FRMD6 is associated with peripheral fat distribution in Qinghai TibetansFRMD6与青海藏族外周脂肪分布相关
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IF4.3
delete2026-10-26
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deleteWen Qi; Hongxiao Jiao; An Zhou; Yangrui Zhang; Yubiao Zhong; Bin Zhang; Youfa Wang; Wen Peng; Wei-Dong Li
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Expanding BRCA1/BRCA2 genomic diversity in the Caribbean: insights from the first national cohort in the Dominican Republic扩展加勒比地区的BRCA1/BRCA2基因组多样性：来自多米尼加共和国首个全国队列的见解
deleteHuman Genomics
IF4.3
delete2026-10-23
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deleteNoelia Parra; Isabel C. Lucero; Elizabeth Castell; Marianna Figueroa; Thais E. Reyes; Eileen Riego
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Cross-population robustness of polygenic risk scores: a controlled evaluation across two biobanks and traits多基因风险评分的跨人群稳健性：一项在两个生物银行和性状中的受控评估
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IF4.3
delete2026-10-22
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deleteAi-Ru Hsieh; Szu-Wen Chen
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Electroclinical and genetic profiling of Tunisian families with malformations of cortical development: report of novel DENND5A mutation, functional DYNC1H/DCX variants and structural correlates突尼斯皮质发育畸形家庭的电临床和遗传特征分析：报道一种新型DENND5A突变、功能性的DYNC1H/DCX变异及其结构相关性
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IF4.3
delete2026-10-17
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deleteMarwa Kharrat; Afif Ben-Mahmoud; Wafa Bouchaala; Abir Ben Issa; Vijay Gupta; Khalid Ouararhni; Thasni Karedath; Abdelaziz Tlili; Faiza Fakhfakh; Fatma Kamoun; Jouke-Jan Hottenga; Chahnez Triki
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Conceptual and translational pitfalls of modified messenger RNA drug design with public health impact公共卫生影响下修饰信使RNA药物设计的概念与转化陷阱
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IF4.3
delete2026-10-16
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deleteLászló G. Boros; Carlo Brogna; Carole H. Browner; Marina Piscopo; Anthony M. Kyriakopoulos; Stephanie Seneff
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Identification of a novel IGBP1 L49F variant in X‑linked intellectual disability鉴定X连锁智力障碍中的一种新型IGBP1 L49F变异
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IF4.3
delete2026-10-15
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deleteJianmei Huang; Zhenglong Guo; Wenke Yang; Weili Shi; Zhaokun Wang; Xiaoliang Xia; Chenyang Wang; Jinming Wang; Yibing Lv; Shixiu Liao
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Concatenated mitochondrial segments in human genetic disorders: a case study串联的线粒体片段在人类遗传障碍中的研究：一个病例分析
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IF4.3
delete2026-10-15
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deleteJing Duan; Shirang Pan; Tao Fu; Xianping jiang; Guixiang Liu; Juanjuan Chen; Li Chen; Jiahui Mai; Liqin Liu; Jianxiang Liao; Zhuo Li; Xinguo Lu; Xufeng Luo
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Prenatal genetic diagnosis of fetal ventricular septal defects: diagnostic yield, genomic hotspots and pregnancy outcomes胎儿室间隔缺损的产前基因诊断：诊断效率、基因组热点及妊娠结局
deleteHuman Genomics
IF4.3
delete2026-10-14
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deleteFagui Yue; Yuanyuan Zhang; Ruizhi Liu; Yuting Jiang
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Analysis of contribution of cellular composition and cell type specific gene expression to age-related and genetic variation in aortic distensibility分析细胞组成和细胞类型特异性基因表达对主动脉顺应性年龄相关和遗传变异的贡献
deleteHuman Genomics
IF4.3
delete2026-10-10
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deleteMehak Chopra; Niamh Hynes; Cathal Seoighe
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Prenatal detection of TSC gene positivity: a nine-year echocardiographic and genetic study of 87 fetuses产前检测TSC基因阳性：87例胎儿的九年产前超声心动图和遗传学研究
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IF4.3
delete2026-10-08
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deleteJiaqi Fan; Hairui Sun; Xiaoyan Hao; Siyao Zhang; Ye Zhang; Jiancheng Han; Xiaoyan Gu; Yihua He
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Diagnostic yield of long-read sequencing in short-read-negative patients: a systematic review and meta-analysis长读测序在短读测序阴性患者中的诊断效率：一项系统评价和荟萃分析
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IF4.3
delete2026-10-08
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deleteAli Babazade; M. Fatih Mulayim; Yusuf Bahap; Mehmet Ali Ergun; Meral Yirmibes Karaoguz
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Clinical utility of next‑generation sequencing-based newborn screening in a prospective cohort of 1125 newborns in China基于下一代测序的新生儿筛查在中国1125例前瞻性队列中的临床应用
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IF4.3
delete2026-10-06
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deletePengbo Yuan; Hongling Wei; Chang Liu; Xunke Gu; Qianqian Du; Aiping Mao; Yang Gao; Yuan Wei; Tongyan Han; Jie Qiao
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Multi-omics profiling coupled with SHAP analysis and molecular dynamics simulation identifies PIM1 as a therapeutic target in PET-MPs-associated gastric cancer多组学分析结合SHAP分析和分子动力学模拟鉴定PIM1为PET-MPs相关胃癌的治疗靶点
deleteHuman Genomics
IF4.3
delete2026-10-06
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deleteBo Yan; Guilin Gao; Wangzhao Tian; Xiaoqiang Yang; Li Yang; Zixi Wu; Xinyuan Xie; Fanrong Zhao; Rui Lei; Pengfei Chen
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Human genomics in Europe: from national and pan-European initiatives to genomic medicine欧洲人类基因组学：从国家和泛欧洲倡议到基因组医学
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IF4.3
delete2026-10-04
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deleteŠpela Gruden; Lucija Raspor Dall’Olio; John M. Hancock; Alja Zottel; Cene Skubic; Alja Videtič Paska; Tadeja Režen; Petra Hudler; Jernej Kovač; Barbara Jenko Bizjan; Tadej Battelino; Damjana Rozman
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Machine learning combined with multidimensional validation identifies SNCA and NR2F2 as key hubs implicated in paraquat and rotenone co-exposure-induced Parkinson’s disease机器学习结合多维验证识别SNCA和NR2F2为百草枯和鱼藤酮联合暴露诱导帕金森病中的关键枢纽
deleteHuman Genomics
IF4.3
delete2026-09-26
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deleteYanjie Jiang; Wenshan Li; Hanyu Wang; Xingyi He; Shipeng Zhang; Xinlang Yu; Zhihui Jin; Man Lu; Rui Fu; Qinwei Fu; Xiaoyu Zhu; Xin Sun; Yan Lu
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Whole-exome sequencing of Iranian families identifies novel variants underlying congenital hearing loss伊朗家庭全外显子组测序鉴定出导致先天性耳聋的新型变异
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IF4.3
delete2026-09-25
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deleteErfan Akbarpoor; Emran Esmaeilzadeh; Fateme Zahedi Abghari; Niloofar Bazazzadegan; Hossein Ghasemi; Marzieh Mohseni; Reza Najafipour
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Clinical utility of carrier screening using whole genome sequencing (WGS) for reproductive risk assessment使用全基因组测序（WGS）进行携带者筛查在生殖风险评估中的临床应用
deleteHuman Genomics
IF4.3
delete2026-09-24
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deleteSara Ciria-Abad; Sara Razquin-Sola; Leslie Matalonga; Virginia García-Solaesa; Fernando Alvira-Iraizoz; María Miranda-Pérez; Jesús Zabaleta-Jurío; Ángel Alonso-Sánchez
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