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Human Genomics|October 22, 2025
Targeted modification of cis-elements in the CUL3 gene to restore exon 9 inclusion for treating Gordon syndromeXiaomeng Shi, Shanshan Lu, Qian Tang, et al.
Human Genomics|October 7, 2025
Identification of C4BPA as a genetically informed drug target in NSCLC: an integrative single-cell and multi-omics study based on the druggable genesZhihan Xiao, Xinji Liu, Wei Tang, et al.
Human Genomics|October 7, 2025
Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findingsЕkaterina Nuzhnaya, Andrey Marakhonov, Nikolai Prokhorov, et al.
Human Genomics|November 15, 2022
Differential upregulation of AU-rich element-containing mRNAs in COVID-19Tala Bakheet, Khalid S A Khabar, Edward G Hitti
Human Genomics|February 4, 2026
Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohortFang Fu, Xing Wei, Chen Chen, et al.
Human Genomics|June 28, 2025
Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncologyMarwa Shekfeh, Mariam M Konaté, Julia Krushkal
Human Genomics|June 18, 2025
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genesJianying Guo, Yali Fan, Zifan Song, et al.
Human Genomics|March 19, 2025
Serine/threonine kinase 11 (STK11) associated adnexal tumors: from biology to therapeutic impactGuanxiang Huang, Wenyu Lin, Tingting Jiang, et al.
Human Genomics|March 22, 2025
Establishment and validation of a DIP panel for forensic ancestry inference and personal identificationShuanglin Li, Shuyan Mei, Yanfang Liu, et al.
Human Genomics|April 21, 2025
Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3Lianni Mei, Chunchun Hu, Guangbo Jin, et al.
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