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Human Genomics|November 25, 2025
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locusNicholas Katsanis, Niki Mourtzi, Consuelo D Quinto-Cortés, et al.
Human Genomics|November 25, 2025
Integrative transcriptomic profiling and machine learning reveal hypoxia-associated molecular signatures for precision diagnosis in thyroid eye diseaseWeijin Qian, Tianyi Zhu, Jin Liu, et al.
Human Genomics|December 25, 2025
IGF2BP3-STAT3-METTL3 axis promotes malignant progression in hepatocellular carcinoma (HCC)Yang Xu, Yu Cao, Jingbo Yang, et al.
Human Genomics|December 30, 2025
Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and miceYongjie Chen, Lin Li, Ranran Meng, et al.
Human Genomics|November 19, 2025
Assessing the clinical application value of SNP-array in fetal central nervous system malformationsWei Li, Jiasun Su, Weiliang Lu, et al.
Human Genomics|May 9, 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?Fiona Lynch, Stephanie Best, Clara Gaff, et al.
Human Genomics|April 16, 2024
The causal associations of circulating lipids with Barrett's Esophagus and Esophageal Cancer: a bi-directional, two sample mendelian randomization analysisBaofeng Li, Meng Li, Xiao Qi, et al.
Human Genomics|April 16, 2024
FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness predictionMatsvei Tsishyn, Gabriel Cia, Pauline Hermans, et al.
Human Genomics|June 16, 2026
Smoking exposure alters splicing of the nicotinic acetylcholine receptor subunit CHRNA5Maxwell H Hogshead, Atuahene Adu-Gyamfi, Brenen W Papenberg, et al.
Human Genomics|July 2, 2026
Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan familiesAssia Idyahia, Salaheddine Redouane, Fatima Ezzahra Chentoufi, et al.
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