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American Journal of Human Genetics|October 17, 2024
Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligoGenevieve H L Roberts, Pamela R Fain, Stephanie A Santorico, et al.
American Journal of Human Genetics|September 6, 2024
Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafnessLuoying Jiang, Shao Wei Hu, Zijing Wang, et al.
American Journal of Human Genetics|August 21, 2024
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of biasColin A Ellis, Karen L Oliver, Rebekah V Harris, et al.
American Journal of Human Genetics|August 6, 2024
A novel multivariable Mendelian randomization framework to disentangle highly correlated exposures with application to metabolomicsLap Sum Chan, Mykhaylo M Malakhov, Wei Pan
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
American Journal of Human Genetics|July 25, 2024
An integrative multi-context Mendelian randomization method for identifying risk genes across human tissuesYihao Lu, Ke Xu, Nathaniel Maydanchik, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
American Journal of Human Genetics|July 30, 2024
Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brainCaroline Dias, Alisa Mo, Chunhui Cai, et al.
American Journal of Human Genetics|August 15, 2024
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditionsKendall A Flaharty, Ping Hu, Suzanna Ledgister Hanchard, et al.
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