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American Journal of Human Genetics|June 3, 2008
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arraysSeyedmehdi Shojaee, Farzad Sina, Setareh Sadat Banihosseini, et al.
American Journal of Human Genetics|June 3, 2008
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid functionLisette Arnaud-Lopez, Gianluca Usala, Graziano Ceresini, et al.
American Journal of Human Genetics|June 3, 2008
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsyMiyabi Tanaka, Richard W Olsen, Marco T Medina, et al.
American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
American Journal of Human Genetics|April 15, 2025
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variantsNitsan Rotenberg, Cristina Fortuno, Matthew J Varga, et al.
American Journal of Human Genetics|June 6, 2025
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretationMin Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
American Journal of Human Genetics|June 6, 2025
Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical researchMateus H Gouveia, Karlijn A C Meeks, Victor Borda, et al.
American Journal of Human Genetics|June 6, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientistsSophie Allen, Alice Garrett, Charlie F Rowlands, et al.
American Journal of Human Genetics|August 21, 2025
Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK BiobankShanlee M Davis, Aoxing Liu, Craig C Teerlink, et al.
American Journal of Human Genetics|February 13, 2026
Rare-variant aggregation highlights disease-linked genes associated with brain volume variationDouglas P Wightman, Bernardo A P C Maciel, Rachel M Brouwer, et al.
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