Categoría: EurJHumGen
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The globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
European Journal of Human Genetics, Published online: 10 July 2026; doi:10.1038/s41431-026-02184-wThe globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
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Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study
European Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02179-7Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DD…
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Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement
European Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02178-8Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement
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Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders
European Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02182-yWhole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental dis…
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Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project
European Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02177-9Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project
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Drawing lines: how the public defines “Serious” genetic conditions for reproductive testing
European Journal of Human Genetics, Published online: 08 July 2026; doi:10.1038/s41431-026-02170-2Drawing lines: how the public defines “Serious” genetic conditions for reproductive testing
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Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review
European Journal of Human Genetics, Published online: 08 July 2026; doi:10.1038/s41431-026-02153-3Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review
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Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasia
European Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-wConfirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
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Summer highlights from EJHG
European Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02172-0Summer highlights from EJHG
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Summer highlights from EJHG
European Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02172-0Summer highlights from EJHG