Categoría: Articulos
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The ten-year evolution of Sherloc, a points-based framework for genetic variant classification
Variant classification underpins the clinical utility of genetic testing. Sherloc is a refinement of the 2015 ACMG/AMP guidelines that implements a structured, points-based scoring framework. It has been applied to 2.6 million variants through 19 versi…
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The difficulties of developing guidelines for rare disease: where consensus, evidence-based medicine and screening principles conflict
European Journal of Human Genetics, Published online: 21 September 2026; doi:10.1038/s41431-026-02241-4The difficulties of developing guidelines for rare disease: where consensus, evidence-based medicine and screening principles conflict
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Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients
Background Objective Methods Results Conclu…
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Emerging genetic mechanisms of glomerular proteinuria: a podocyte-centered multi-layer network perspective
Podocyte injury is widely recognized as a central driver of glomerular proteinuria and progression to chronic kidney disease. Although proteinuria can originate from multiple components of the glomerular filtration barrier, genetic and experimental stu…
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Study reveals surprising cause of immune challenges in people with Down syndrome
Getting sick can look very different for people with Down syndrome (DS); illnesses that are mild for most people may lead to serious complications, including pneumonia, hospitalization or the need for intensive care.
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Study reveals surprising cause of immune challenges in people with Down syndrome
Getting sick can look very different for people with Down syndrome (DS); illnesses that are mild for most people may lead to serious complications, including pneumonia, hospitalization or the need for intensive care.
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Clinical features and management of a series of duodenal duplication cysts in children
Instructions Materials and methods Results C…
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Cortical gyrification abnormalities are coupled with white matter microstructural disruption in dentatorubral-pallidoluysian atrophy
Background Methods Results Conclusions …
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A variance QTL approach to uncover gene-fish oil supplement interaction loci for 14 circulating unsaturated fatty acid traits
Gene-environment interactions (GEIs) contribute to circulating polyunsaturated fatty acid (PUFA) and monounsaturated fatty acid (MUFA) profiles. GEIs may partly explain differences in trait variance across genotype groups. To identify GEIs for circulating unsaturated fatty acids, we adopted a two-stage strategy. First, we detected quantitative trait loci associated with trait variance (vQTLs). Second, we tested these…
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Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
European Journal of Human Genetics, Published online: 18 September 2026; doi:10.1038/s41431-026-02236-1Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?