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Journal of Human Genetics
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Last updated 2 days ago
Correction: A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient
2 days ago
Journal of Human Genetics, Published online: 21 July 2026; doi:10.1038/s10038-026-01495-6Correction: A trio-based...
Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant
8 days ago
Journal of Human Genetics, Published online: 16 July 2026; doi:10.1038/s10038-026-01493-8Clinical and molecular...
Novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and non-obstructive azoospermia
11 days ago
Journal of Human Genetics, Published online: 13 July 2026; doi:10.1038/s10038-026-01492-9Novel variants in...
Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey
18 days ago
Journal of Human Genetics, Published online: 06 July 2026; doi:10.1038/s10038-026-01491-wTowards sustainable hereditary...
Age-dependent association of the METTL23 c.84+60delAT variant with normal-tension glaucoma
21 days ago
Journal of Human Genetics, Published online: 03 July 2026; doi:10.1038/s10038-026-01490-xAge-dependent association of...
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations
23 days ago
Journal of Human Genetics, Published online: 01 July 2026; doi:10.1038/s10038-026-01489-4Haplotype analysis of...
Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy
25 days ago
Journal of Human Genetics, Published online: 29 June 2026; doi:10.1038/s10038-026-01488-5Activation of cryptic...
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI
30 days ago
Journal of Human Genetics, Published online: 24 June 2026; doi:10.1038/s10038-026-01485-8The importance of...
A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient
about 1 month ago
Journal of Human Genetics, Published online: 22 June 2026; doi:10.1038/s10038-026-01487-6A trio-based long-read...
Functional effect predictions for ion channel missense variants using a protein language model
about 1 month ago
Journal of Human Genetics, Published online: 22 June 2026; doi:10.1038/s10038-026-01484-9Functional effect predictions...
Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches
about 1 month ago
Journal of Human Genetics, Published online: 19 June 2026; doi:10.1038/s10038-026-01486-7Recombinant GBA1 alleles...
Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study
about 2 months ago
Journal of Human Genetics, Published online: 04 June 2026; doi:10.1038/s10038-026-01483-wNeonatal cytogenetic validation...