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Human Genomics cover

Human Genomics

IF4.3
Papers1039
Citations2604
Journal Papers 1260
Publication Date
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Clinical utility of next‑generation sequencing-based newborn screening in a prospective cohort of 1125 newborns in China
deleteHuman Genomics
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
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
deleteHuman Genomics
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
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
deleteHuman Genomics
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
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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IBI-DT as a complementary framework for prioritizing candidate genes, interactions, and pathways in congenital heart disease
deleteHuman Genomics
IF4.3
delete2026-09-22
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deleteMd Asad Rahman; Jin Ren; Gregory F. Cooper; Xinghua Lu; Jinling Liu
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A-to-I RNA editing remodeling across CD11b/CD14/CD16-defined synovial monocyte-macrophage cell states
deleteHuman Genomics
IF4.3
delete2026-09-19
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deleteYingming Chu; Boyang Yi; Xinyue Cao; Yuange Duan; Qi Cao
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Development and validation of a multiplex targeted PCR-sequencing assay for opioid pharmacogenes genotyping
deleteHuman Genomics
IF4.3
delete2026-09-16
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deleteLiting Wu; Ting Xu; Zhumeng Li; Wenfang Zhuang; Jia Li
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Shared genetic architecture between PMOS and MASLD: a transcriptome-wide association study prioritizes candidate hepatic genes
deleteHuman Genomics
IF4.3
delete2026-09-15
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deleteEnting Ji; Shuting Ning; Ze Wang; Yao Lu; Guowei Xue; Min Hu; Juan Li; Shumin Li; Hongxia Ma
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Machine learning and multi-omics clustering to map cellular rewiring and immune evasion in ccRCC
deleteHuman Genomics
IF4.3
delete2026-09-15
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deleteZhe Wang; YingJian Wang; Jiayi Zhang; Yuechang Zhang; Shaoyang Xv; Long Zhang; Feng Wang; Dao Xin
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AI-powered histopathology classifiers identify transcriptomic biomarkers associated with cell cycle regulation and increased mitotic activity in poorly differentiated neuroendocrine carcinoma
deleteHuman Genomics
IF4.3
delete2026-09-15
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deleteTimothy Khumpan; Kasonde Chewe; Namrata Vijayvergia; Eric Eleam; Juan Nicolas Quiñones-Romero; Suraj Peri; Gong Yulan; Paul F. Engstrom; Kathy Q. Cai; Jianming Pei; Gulnaz D. Alekbaeva; Kerry S. Campbell; Johnathan R. Whetstine; Igor Astsaturov; Hayan Lee
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Receptor tyrosine kinase families: a central hub of cellular signaling and involvement in human health and disease
deleteHuman Genomics
IF4.3
delete2026-09-14
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deleteAnjana Raj; Fadia Abu-Sailik; Aseel A. Jawabri; Batool M. Ahmad; Feda E. Mohamed; Bassam R. Ali
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Correction: Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders
deleteHuman Genomics
IF4.3
delete2026-09-12
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deleteRiman Alafghani; Deema Aljeaid; Noor Ahmad Shaik; Babajan Banaganapalli; Ramu Elango; Ghayah Khard; Wisam Habhab; Ghada Jadkarim; Dalal Sameer Alshaer; Mahmoud Almutadares; Nuha Mohammad Alrayes; Noha M. Issa
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Identifying causal genes of neutrophil extracellular traps in chronic obstructive pulmonary disease pathogenesis
deleteHuman Genomics
IF4.3
delete2026-09-11
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deleteKai-Shu Ma; Dan-Dan Liu; Li-Na Li; Ru-Liu Fan; Gang Chen; Xu-Dong Zhao; Lin Fu; Kai-Xin Qu
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A reproducible transcriptomic signature supports interpretation of metatranscript-only TTN variants in recessive titinopathy
deleteHuman Genomics
IF4.3
delete2026-09-11
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deleteYanmin Zhang; Ling Xu; Yao Lei; Ronnie S. L. Ho; Ho Yin Leo Chu; Yuan Gao; Wanling Yang; Paul A. Koljonen; Carsten G. Bönnemann; Sophelia H. S. Chan; Asif Javed
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Prevalence and spectrum of MECP2 variants in patients clinically diagnosed with cerebral palsy
deleteHuman Genomics
IF4.3
delete2026-09-10
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deleteYu Su; Ye Cheng; Yimeng Qiao; Hongyuan Sun; Jingzhou Li; Changlian Zhu; Lin He; Qinghe Xing; Jin Zhang
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Transcriptomic signatures of hydroxyurea response in sickle cell disease
deleteHuman Genomics
IF4.3
delete2026-09-05
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deleteMatthis Tinguely; Lennart Opitz; Markus Schmugge; Francesca D. Franzoso
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The impact of coronary heart disease-associated genetic variants on heart rate dynamics
deleteHuman Genomics
IF4.3
delete2026-09-02
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deleteHabib Al Ashkar; Nihad Kharrat Helu; Nora Kovacs; Gergo Turi; Szilvia Fiatal; Roza Adany; Peter Piko
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Population pharmacogenomics in Russia: insights from 6102 exomes and implications for genomic medicine
deleteHuman Genomics
IF4.3
delete2026-08-30
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deleteAnastasiia A. Buianova; Valery V. Cheranev; Anna O. Shmitko; Alina F. Samitova; Anna А. Kuznetsova; Iuliia A. Vasiliadis; Oleg N. Suchalko; Mikhail Iu. Kuznetsov; Zhanna A. Repinskaia; Vera A. Belova; Denis V. Rebrikov; Dmitriy O. Korostin
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