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Human Genetics cover

Human Genetics

IF3.6
Papers4594
Citations8857
Journal Papers 4790
Publication Date
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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
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
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
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
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
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
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 severity
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
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
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
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
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
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
deleteHuman Genetics
IF3.6
delete2026-08-25
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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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Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia
deleteHuman Genetics
IF3.6
delete2026-08-17
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PREAI
deleteDan Xia; Xiaofang Peng; Zihao Deng; Shuyun Deng; Zhanwen He; Jieming Zhang; Xiaoqin Xiao; Xi Sun; Xiao Qian; Xueyuan Zhang; Liyang Liang; Xiaojuan Li
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CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs
deleteHuman Genetics
IF3.6
delete2026-08-12
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deleteDawid Skoczek; Jerzy Hohendorff; Maciej T. Malecki; Alicia Roig-Merino; Rasmus O. Bak; Neli Kachamakova-Trojanowska
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TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing
deleteHuman Genetics
IF3.6
delete2026-08-10
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PREAI
deleteS Rehan Ahmad; Md. Zeyaullah; Mohammad Suhail Khan; Abdelrhman A. G. Altijani; Ali Mohieldin; Khursheed Muzammil
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The Russian FSHD registry: a first look at the cohort
deleteHuman Genetics
IF3.6
delete2026-08-08
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deleteAnna Kuchina; Darya Sherstyukova; Artem Borovikov; Margarita Soloshenko; Nikolay Zernov; Dmitrii Subbotin; Elena Dadali; Inna Sharkova; Galina Rudenskaya; Sergey Kutsev; Mikhail Skoblov; Aysylu Murtazina
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Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension
deleteHuman Genetics
IF3.6
delete2026-08-07
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PREAI
deleteLin Yan; Yang Qiu; Zhiwen Mo; Mingli Li; Xueran Huang; Yongfen Gao; Boteng Yan; Qiantu Hu; Haiying Zhang; Zengnan Mo; Rui Lin
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Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations
deleteHuman Genetics
IF3.6
delete2026-08-07
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PREAI
deleteWendi Dang; Xiaoming Wu; Jing Zhao; Song Lin; Xirui Wang; Xiaomin Yang; Jin Sun; Tielin Yang; Chuan-Chao Wang; Hu-Qin Zhang
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α-Thalassemia in Oraons—indigenous tribal population from Jharkhand, India: insights to common deletions
deleteHuman Genetics
IF3.6
delete2026-07-30
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PREAI
deleteShaikh Roshan; Nadkarni Anita; Kerketta Lily; Ghosh Kanjaksha; Gorakshakar Ajit
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