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American Journal of Human Genetics|April 16, 2024
CAG repeat mosaicism is gene specific in spinocerebellar ataxiasRadhia Kacher, François-Xavier Lejeune, Isabelle David, et al.
American Journal of Human Genetics|April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingShenglan Li, Sen Zhao, Jefferson C Sinson, et al.
American Journal of Human Genetics|January 14, 2026
Genetic regulation of fatty acid content in adipose tissueXinyu Yan, Amy L Roberts, Julia S El-Sayed Moustafa, et al.
American Journal of Human Genetics|January 21, 2026
A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studiesYanyu Liang, Festus Nyasimi, Hae Kyung Im
American Journal of Human Genetics|January 28, 2026
AncientProxy: A catalog of ancient proxies for modern genetic variantsColin M Brand, John A Capra
American Journal of Human Genetics|December 5, 2025
Improving polygenic risk prediction performance by integrating electronic health records through phenotype embeddingLeqi Xu, Wangjie Zheng, Jiaqi Hu, et al.
American Journal of Human Genetics|November 25, 2025
Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanksDavid R Blair, Neil Risch
American Journal of Human Genetics|December 3, 2025
Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer preventionQing Li, Qingyuan Song, Zhishan Chen, et al.
American Journal of Human Genetics|December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, et al.
American Journal of Human Genetics|December 17, 2024
TEMR: Trans-ethnic mendelian randomization method using large-scale GWAS summary datasetsLei Hou, Sijia Wu, Zhongshang Yuan, et al.
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