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American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
American Journal of Human Genetics|September 30, 2025
Local ancestry-informed GWAS of warfarin dose requirement in African Americans identifies a CYP2C19 splicing QTLAnmol Singh, Cristina Alarcon, Edith A Nutescu, et al.
American Journal of Human Genetics|July 11, 2025
Efficient Mendelian randomization analysis with self-adaptive determination of sample structure and multiple pleiotropic effectsLiye Zhang, Lu Liu, Jiadong Ji, et al.
American Journal of Human Genetics|July 9, 2025
Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populationsGeyu Zhou, Israel Yolou, Yuhan Xie, et al.
American Journal of Human Genetics|July 4, 2025
Genetic contributions to epigenetic-defined endotypes of allergic phenotypes in childrenEmma E Thompson, Xiaoyuan Zhong, Peter Carbonetto, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Human Genetics|December 24, 2025
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonismAlan Mejia Maza, Madison Hincher, Kevin Correia, et al.
American Journal of Human Genetics|February 6, 2026
Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research ProgramShuyan Cheng, Austin Hammermeister Suger, Louisa B Goss, et al.
American Journal of Human Genetics|April 30, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experienceThiloka Ratnaike, Ida Paramonov, Catarina Olimpio, et al.
American Journal of Human Genetics|April 15, 2025
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidenceLobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez, et al.
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