Categoría: EurJHumGen
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Mainstreaming genomic testing for mitochondrial disease in Australia
European Journal of Human Genetics, Published online: 26 February 2026; doi:10.1038/s41431-026-02053-6Mainstreaming genomic testing for mitochondrial disease in Australia
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Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project
European Journal of Human Genetics, Published online: 25 February 2026; doi:10.1038/s41431-026-02048-3Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screeni…
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Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome
European Journal of Human Genetics, Published online: 25 February 2026; doi:10.1038/s41431-026-02034-9Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome
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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
European Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02054-5Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decis…
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Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
European Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02036-7Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
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“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02041-w“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health educatio…
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A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02047-4A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
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Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02046-5Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
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Flexible and rapid validation of structural variation using adaptive sampling
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02039-4Flexible and rapid validation of structural variation using adaptive sampling
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Personal utility of genomic results: Application and validation of the PrU scale to the Australian context
European Journal of Human Genetics, Published online: 21 February 2026; doi:10.1038/s41431-026-02052-7Personal utility of genomic results: Application and validation of the PrU scale to the Australian context