Categoría: EurJHumGen
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The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02025-wThe potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
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Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02028-7Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
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Advancing genomic medicine: Guidelines, risk scores, and disease discovery
European Journal of Human Genetics, Published online: 30 January 2026; doi:10.1038/s41431-026-02021-0Advancing genomic medicine: Guidelines, risk scores, and disease discovery
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Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarcinoma
European Journal of Human Genetics, Published online: 29 January 2026; doi:10.1038/s41431-026-02020-1Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarci…
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Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium
European Journal of Human Genetics, Published online: 29 January 2026; doi:10.1038/s41431-026-02014-zNon-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM co…
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De novo heterozygous variants of the <i>RSF1</i> gene are responsible for a syndromic neurodevelopmental disorder
European Journal of Human Genetics, Published online: 28 January 2026; doi:10.1038/s41431-026-02017-wDe novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
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Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling
European Journal of Human Genetics, Published online: 26 January 2026; doi:10.1038/s41431-025-01995-7Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling
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Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
European Journal of Human Genetics, Published online: 22 January 2026; doi:10.1038/s41431-026-02019-8Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
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The relationship between uncertainty and trust in genomic medicine and research: A literature review and thematic analysis
European Journal of Human Genetics, Published online: 21 January 2026; doi:10.1038/s41431-026-02018-9The relationship between uncertainty and trust in genomic medicine and research: A literature review and thematic analysis
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New year, new insights in genomic medicine
European Journal of Human Genetics, Published online: 19 January 2026; doi:10.1038/s41431-025-02011-8New year, new insights in genomic medicine