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Journal of Human Genetics|October 17, 2023
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian CohortDebashish Danda, Ruchika Goel, Jayakanthan Kabeerdoss, et al.Journal of Human Genetics|July 3, 2026
Age-dependent association of the METTL23 c.84+60delAT variant with normal-tension glaucomaYang Pan, Kazutoshi Yoshitake, Naoko Minematsu, et al.Journal of Human Genetics|June 4, 2026
Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center studyShiho Uchida, Yuki Mizuguchi, Suguru Sato, et al.Journal of Human Genetics|May 19, 2026
Transfer RNA-derived small RNAs: from biogenesis to regulatory roles in male reproductive systemXiaodan Jiang, Xinliang Gu, Yang Li, et al.Journal of Human Genetics|August 3, 1999
Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineageT Shinka, K Tomita, T Toda, et al.Journal of Human Genetics|August 9, 2026
Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction couplingYukari EndoJournal of Human Genetics|August 12, 2026
Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVADione A Holder, Betul Celik, Sampurna Saikia, et al.Journal of Human Genetics|September 15, 2026
Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosisZoe N Zussa, Andrew N Smith, Joke J F A van Vugt, et al.Journal of Human Genetics|September 28, 2026
Which R2 should be used to benchmark polygenic score performance against heritability?Ciaran Michael KellyJournal of Human Genetics|September 28, 2026
Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic reviewFatemeh Ghermezcheshmeh, Nazila Malekian, Aida Ghasemi, et al.Pageof 353