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Journal of Human Genetics
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Last updated 1 day ago
Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort
1 day ago
Journal of Human Genetics, Published online: 08 September 2026; doi:10.1038/s10038-026-01514-6Broadening the Okur-Chung...
Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome
5 days ago
Journal of Human Genetics, Published online: 04 September 2026; doi:10.1038/s10038-026-01511-9Beyond in silico...
Biallelic nonsense variants in GAS8 associated with asthenoteratozoospermia and PCD-like symptoms
5 days ago
Journal of Human Genetics, Published online: 04 September 2026; doi:10.1038/s10038-026-01512-8Biallelic nonsense variants...
THE1 repeats: Ancient endogenous retroviruses rampaging behind sarcoid myopathy
6 days ago
Journal of Human Genetics, Published online: 03 September 2026; doi:10.1038/s10038-026-01510-wTHE1 repeats: Ancient...
Cross-biobank comparison of ASCVD heritability and genetic correlation
12 days ago
Journal of Human Genetics, Published online: 28 August 2026; doi:10.1038/s10038-026-01508-4Cross-biobank comparison of...
Systematic genotype–phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22–q23 deletions
12 days ago
Journal of Human Genetics, Published online: 27 August 2026; doi:10.1038/s10038-026-01507-5Systematic genotype–phenotype mapping...
Clinical significance of miRNAs and exosomal miRNAs in non-small cell lung cancer: diagnostic, prognostic, and therapeutic perspectives
19 days ago
Journal of Human Genetics, Published online: 18 August 2026; doi:10.1038/s10038-026-01505-7Clinical significance of...
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32
19 days ago
Journal of Human Genetics, Published online: 18 August 2026; doi:10.1038/s10038-026-01504-8Clinical features of...
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies
19 days ago
Journal of Human Genetics, Published online: 19 August 2026; doi:10.1038/s10038-026-01506-6Identification and characterisation...
Professional bodies: how best to promote and support individuals working in human genetics and genomics
23 days ago
Journal of Human Genetics, Published online: 17 August 2026; doi:10.1038/s10038-026-01458-xProfessional bodies: how...
Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification
23 days ago
Journal of Human Genetics, Published online: 14 August 2026; doi:10.1038/s10038-026-01503-9Biallelic SLC20A2 loss-of-function...
Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA
27 days ago
Journal of Human Genetics, Published online: 13 August 2026; doi:10.1038/s10038-026-01501-xComprehensive characterization and...