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Human Genomics|September 26, 2023
The causal relationship between COVID-19 and seventeen common digestive diseases: a two-sample, multivariable Mendelian randomization studyZhiqi Wang, Huanyu Zhou, Shurui Zhang, et al.Human Genomics|October 3, 2023
Mendelian randomization analysis reveals fresh fruit intake as a protective factor for urolithiasisYiwei Lin, Cheng Zhou, Yuqing Wu, et al.Human Genomics|September 16, 2024
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac deathMartina Modena, Alberto Giannoni, Alberto Aimo, et al.Human Genomics|September 10, 2024
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genesRahaf M Ahmad, Bassam R Ali, Fatma Al-Jasmi, et al.Human Genomics|September 7, 2024
Multi-regional genomic and transcriptomic characterization of a melanoma-associated oral cavity cancer provide evidence for CASP8 alteration-mediated field cancerizationShouvik Chakravarty, Arnab Ghosh, Chitrarpita Das, et al.Human Genomics|June 2, 2023
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia casesAlejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, et al.Human Genomics|August 31, 2025
A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature reviewDongye He, Yanan Luo, Shuoshuo Wei, et al.Human Genomics|November 23, 2024
SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidiesAnne Kristine Schack, M Carmen Garrido-Navas, David Galevski, et al.Human Genomics|October 19, 2024
Computational approaches to investigate the relationship between periodontitis and cardiovascular diseases for precision medicineSophia Duenas, Zachary McGee, Ishani Mhatre, et al.Human Genomics|May 13, 2026
Transcriptome and plasma proteome analyses identify susceptibility genes and proteins for alcohol-related hepatocellular carcinomaZhishuang Li, Menghan Liu, Jiacheng Li, et al.Pageof 112