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Journal of Human Genetics|July 1, 2026
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populationsKatsuki Eguchi, Satoko Miyatake, Asako Takei, et al.Journal of Human Genetics|June 28, 2026
Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathyGuangyu Wang, Guiguan Yang, Yaru Wang, et al.Journal of Human Genetics|June 19, 2026
Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approachesYoun-Ji Hong, Mi-Ae Jang, Dongmin Yang, et al.Journal of Human Genetics|July 29, 2026
VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencingMina Kashima, Hiroshi Tsubamoto, Tomoko Ueda, et al.Journal of Human Genetics|June 8, 2001
Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosisT Watanabe, I Imoto, Y Kosugi, et al.Journal of Human Genetics|August 20, 2026
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomaliesSerdar Bozlak, Cuneyd Yavas, Yusuf Seflekci, et al.Journal of Human Genetics|August 14, 2026
Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcificationMehmet Burak Mutlu, Abdullah Sezer, Elif Özdemir, et al.Journal of Human Genetics|September 12, 2026
Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathyMark Mencias, Meneka Kanagaratnam, Emma MatthewsJournal of Human Genetics|September 4, 2026
THE1 repeats: Ancient endogenous retroviruses rampaging behind sarcoid myopathyAritoshi Iida, Shunsuke Funaguma, Ichizo NishinoJournal of Human Genetics|September 7, 2026
Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohortÇağrı Doğan, Alper Gezdirici, Hatice Özışık, et al.Pageof 353