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American Journal of Human Genetics|June 22, 2024
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromesDavid Heimdörfer, Alexander Vorleuter, Alexander Eschlböck, et al.
American Journal of Human Genetics|June 25, 2024
GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomasJian Ren, Ziwei Cui, Chendan Jiang, et al.
American Journal of Human Genetics|June 26, 2024
Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophreniaJonatan L Hervoso, Kofi Amoah, Jack Dodson, et al.
American Journal of Human Genetics|June 18, 2024
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementiaClaudia Manzoni, Demis A Kia, Raffaele Ferrari, et al.
American Journal of Human Genetics|May 9, 2024
Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortiaS Taylor Head, Felipe Dezem, Andrei Todor, et al.
American Journal of Human Genetics|May 17, 2024
Genome-wide DNA methylation changes in human spermatogenesisLara M Siebert-Kuss, Verena Dietrich, Sara Di Persio, et al.
American Journal of Human Genetics|May 15, 2024
Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variationZhi Ming Xu, Gnimah Eva Gnouamozi, Sina Rüeger, et al.
American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
American Journal of Human Genetics|May 22, 2024
Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancerMary Pat Reeve, Mari Vehviläinen, Shuang Luo, et al.
American Journal of Human Genetics|April 18, 2024
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metricQuan Sun, Yingxi Yang, Jonathan D Rosen, et al.
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