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Human Genomics|November 13, 2025
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnosesMahalia S B Frank, Melissa K Bennett, Thuong T Ha, et al.
Human Genomics|October 23, 2025
The role of ABCB1 and CES1 genotypes on the efficacy and safety of dabigatran: a systematic review and meta-analysisWeam Aldiban, Nada G Hamam, Nereen A Almosilhy, et al.
Human Genomics|October 23, 2025
Association between hot spring residency and dry eye disease: a crossover gene-environment interaction (GxE) study in TaiwanHsin-Yu Wu, Kao-Jung Chang, Wei Chiu, et al.
Human Genomics|June 25, 2025
Pharmacists' perspectives on integrating pharmacogenetics in clinical practiceNajmaddin A H Hatem, Wafa Badullah, Seena A Yousuf, et al.
Human Genomics|July 4, 2025
HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancerAnna-Lena Katzke, Marvin Doebel, Jan Hauke, et al.
Human Genomics|February 29, 2024
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathyYuqiao Ju, Tianhui Chen, Lu Ruan, et al.
Human Genomics|March 16, 2024
A genome-wide association study of neutrophil count in individuals associated to an African continental ancestry group facilitates studies of malaria pathogenesisAndrei-Emil Constantinescu, David A Hughes, Caroline J Bull, et al.
Human Genomics|March 21, 2024
Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disordersHo Heon Kim, Dong-Wook Kim, Junwoo Woo, et al.
Human Genomics|March 15, 2024
Statistical methods for assessing the effects of de novo variants on birth defectsYuhan Xie, Ruoxuan Wu, Hongyu Li, et al.
Human Genomics|July 19, 2024
Genetic distance and ancestry proportion modify the association between maternal genetic risk score of type 2 diabetes and fetal growthTesfa Dejenie Habtewold, Prabhavi Wijesiriwardhana, Richard J Biedrzycki, et al.
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