Categoría: EurJHumGen
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When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants
European Journal of Human Genetics, Published online: 01 July 2026; doi:10.1038/s41431-026-02174-yWhen truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants
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Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening
European Journal of Human Genetics, Published online: 30 June 2026; doi:10.1038/s41431-026-02152-4Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening
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Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfecta
European Journal of Human Genetics, Published online: 30 June 2026; doi:10.1038/s41431-026-02164-0Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfecta
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Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
European Journal of Human Genetics, Published online: 27 June 2026; doi:10.1038/s41431-026-02158-ySystematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive diso…
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Australian parents’ perspectives on extended genomic screening: what information to return and when?
European Journal of Human Genetics, Published online: 27 June 2026; doi:10.1038/s41431-026-02168-wAustralian parents’ perspectives on extended genomic screening: what information to return and when?
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Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
European Journal of Human Genetics, Published online: 27 June 2026; doi:10.1038/s41431-026-02158-ySystematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive diso…
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Perspectives on phenotype in genetic testing for early-onset atrial fibrillation
European Journal of Human Genetics, Published online: 26 June 2026; doi:10.1038/s41431-026-02163-1
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How parents decide whether to have genomic newborn screening: experiences from BabyScreen+
European Journal of Human Genetics, Published online: 26 June 2026; doi:10.1038/s41431-026-02159-xHow parents decide whether to have genomic newborn screening: experiences from BabyScreen+
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Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result
European Journal of Human Genetics, Published online: 26 June 2026; doi:10.1038/s41431-026-02167-xPsychosocial outcomes of reproductive genetic carrier screening up to five years post-result
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Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools
European Journal of Human Genetics, Published online: 26 June 2026; doi:10.1038/s41431-026-02162-2Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools