Categoría: Articulos
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New brain atlas shows neurons don’t inherit their identity—they build it in their first hours of life
A brain contains hundreds or thousands of different kinds of neurons, each with its own shape, connections and function. Yet all of them arise from a comparatively small pool of dividing neural stem cells. How does a newly-born cell know what kind of n…
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The effect of unique molecular identifier family size using tumor-informed circulating tumor-DNA analysis in childhood cancers
Analysis of circulating tumor-DNA (ctDNA) provides a molecular assessment that can complement routine imaging in childhood cancer management. Detailed monitoring of ctDNA levels may provide information on treatment efficacy and resistance, minimal resi…
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Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency
The complex CYP21A2 variants arising from high homology with its pseudogene CYP21A1P challenge the diagnosis of 21-hydroxylase deficiency (21-OHD). This study systematically evaluated long-read sequencing (LRS) for identifying complex structural varian…
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Professional bodies: how best to promote and support individuals working in human genetics and genomics
European Journal of Human Genetics, Published online: 11 September 2026; doi:10.1038/s41431-026-02032-xProfessional bodies: how best to promote and support individuals working in human genetics and genomics
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The brain’s blood vessels may hold a key to Alzheimer’s—and protection from it
Alzheimer’s disease is one of the most feared diagnoses among older adults, particularly for those who know they carry a high-risk gene that magnifies their odds. But even many people with this gene—APOE ε4—dodge the disease and stay mentally sharp int…
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The brain’s blood vessels may hold a key to Alzheimer’s—and protection from it
Alzheimer’s disease is one of the most feared diagnoses among older adults, particularly for those who know they carry a high-risk gene that magnifies their odds. But even many people with this gene—APOE ε4—dodge the disease and stay mentally sharp int…
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The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
European Journal of Human Genetics, Published online: 11 September 2026; doi:10.1038/s41431-026-02213-8The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
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Correction: Hemizygous loss-of-function variants of <i>EIF1AX</i> are associated with a syndromic neurodevelopmental disorder
European Journal of Human Genetics, Published online: 11 September 2026; doi:10.1038/s41431-026-02219-2Correction: Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
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Trio-based GWAS reveals loci associated with different forms of isolated cleft lip
Orofacial clefts (OFCs) are the most common craniofacial birth defect and comprise a diverse group of traits with complex and heterogeneous etiologies. Genetic studies of OFCs typically approach this diversity by stratifying cases into broad diagnostic classes, including cleft lip (CL), cleft palate (CP), and cleft lip with palate (CLP). Although this strategy has yielded…