Categoría: EurJHumGen
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Reduced penetrance of <i>COL1A1/2</i> pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
European Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02118-6Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
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Transcription-based identification of uncharacterized genes in the human immune response
European Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02117-7Transcription-based identification of uncharacterized genes in the human immune response
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Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1
European Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02105-xDistinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1
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EMQN Best Practice Guidelines for Genetic Testing and Reporting in <i>RYR1</i>-related disorders
European Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02121-xEMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders
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Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1
European Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02127-5Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1
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Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implications
European Journal of Human Genetics, Published online: 08 May 2026; doi:10.1038/s41431-026-02108-8Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implications
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Genomic newborn screening: data retention for research and clinical reuse
European Journal of Human Genetics, Published online: 06 May 2026; doi:10.1038/s41431-026-02120-yGenomic newborn screening: data retention for research and clinical reuse
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Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screening
European Journal of Human Genetics, Published online: 06 May 2026; doi:10.1038/s41431-026-02123-9Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screening
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Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type
European Journal of Human Genetics, Published online: 02 May 2026; doi:10.1038/s41431-026-02124-8Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type
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Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation
European Journal of Human Genetics, Published online: 30 April 2026; doi:10.1038/s41431-026-02119-5Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation