Categoría: EurJHumGen
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Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up
European Journal of Human Genetics, Published online: 03 March 2026; doi:10.1038/s41431-026-02062-5Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up
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Tumor patterns and cancer risk in carriers of <i>TP53</i> exonic germline variants that alter mRNA splicing
European Journal of Human Genetics, Published online: 03 March 2026; doi:10.1038/s41431-026-02061-6Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing
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A prioritization framework for <i>BRCA1/2</i> variants of uncertain significance identified by comprehensive genomic profiling
European Journal of Human Genetics, Published online: 02 March 2026; doi:10.1038/s41431-026-02058-1A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling
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Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations
European Journal of Human Genetics, Published online: 02 March 2026; doi:10.1038/s41431-026-02040-xChallenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations
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Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation
European Journal of Human Genetics, Published online: 02 March 2026; doi:10.1038/s41431-026-02051-8Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation
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Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators
European Journal of Human Genetics, Published online: 02 March 2026; doi:10.1038/s41431-026-02060-7Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facil…
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A multi-dimensional framework for establishing and managing a genomic newborn screening program
European Journal of Human Genetics, Published online: 28 February 2026; doi:10.1038/s41431-026-02045-6A multi-dimensional framework for establishing and managing a genomic newborn screening program
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Black parents’ views and understanding of prenatal genetic testing: a cross-sectional survey of attitudes, knowledge and trust in UK healthcare
European Journal of Human Genetics, Published online: 28 February 2026; doi:10.1038/s41431-026-02059-0Black parents’ views and understanding of prenatal genetic testing: a cross-sectional survey of attitudes, knowledge and trust in UK …
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Variant-specific functional effects of <i>CTNNA1</i> in a humanized <i>Drosophila</i> model
European Journal of Human Genetics, Published online: 27 February 2026; doi:10.1038/s41431-026-02055-4Variant-specific functional effects of CTNNA1 in a humanized Drosophila model
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Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review
European Journal of Human Genetics, Published online: 27 February 2026; doi:10.1038/s41431-026-02038-5Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review