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Human Genomics|July 27, 2025
A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysisHiba Alblooshi, Noor Mustafa, Azeem Abdul Khalam, et al.
Human Genomics|June 28, 2025
Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasiaKangyu Liu, Yu Chen, Yunlong Meng, et al.
Human Genomics|December 25, 2025
Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigreesYi-Feng Xu, Jing Zhang, Tian-Ying Wei, et al.
Human Genomics|February 12, 2026
Exon skipping as a potential diagnostic biomarker in colorectal cancer: an integrated epigenomic-transcriptomic analysis​Lili Zhang, Jian Cui, Jinxin Shi, et al.
Human Genomics|February 12, 2026
Genetic findings in ten Ecuadorian patients with suspected Wilson's diseaseVanessa I Romero, Martina Armas Samaniego, Paúl León, et al.
Human Genomics|December 15, 2025
Sleep patterns, genetic factors and the risk of cirrhosis: a prospective cohort studyFei Lin, Haoyu Zhang, Hongwei Xu, et al.
Human Genomics|December 5, 2025
Biological aging and lifespan in men and women using a Mendelian randomization studyC M Schooling, Shun Li, Zhu Liduzi Jiesisibieke
Human Genomics|December 4, 2025
Molecular mechanisms of air pollution-induced carcinogenesis and the emerging role of microplasticsJulia Vu, Kari Nadeau, Maya Kasowski
Human Genomics|November 29, 2025
Multi-region spatial transcriptomics reveals region specific differences in response to amyloid beta (Aβ) plaque induced changes in Alzheimer's disease (AD)Odmaa Bayaraa, Michael Aksu, Evon DeBose-Scarlett, et al.
Human Genomics|June 20, 2025
Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation toolsYu-An Chen, Tzu-Hang Yuan, Jia-Hsin Huang, et al.
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