Categoría: Articulos
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Impact of a digital platform on genetic counselling encounters in the screening context
European Journal of Human Genetics, Published online: 13 February 2026; doi:10.1038/s41431-026-02029-6Impact of a digital platform on genetic counselling encounters in the screening context
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Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context
BackgroundChildren with complex genetic diseases increasingly survive to adulthood, but adult health is poorly understood. Using a genetics-first approach we investigated the incidence and accrual of cardiovascular and other outcomes in people with mol…
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Delineating the Genetic Basis of <i>RNF213</i>-related vasculopathies: The association of <i>PKHD1</i> variants with bilateral cerebral vasculopathy
European Journal of Human Genetics, Published online: 12 February 2026; doi:10.1038/s41431-026-02030-zDelineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy
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Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case–control study in Chinese populations
BackgroundCell division cycle 27 (CDC27) gene expression is closely associated with the cell cycle and has been implicated in the pathogenesis of congenital heart disease (CHD) in animal models. This study focuses on investigating whether single-nucleo…
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CORRECTION
In the article entitled, “Enhanced Detection of Splice-Altering Variants in Hematologic Malignancies Using Targeted RNA-Sequencing Data” (Volume 28, pages 39–52 of the January 2026 issue of The Journal of Molecular Diagnostics; https://doi.org/10.1016/…
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Long-read whole-transcriptome sequencing and selective gene panel profiling enable sensitive detection of fusion oncogenes in pediatric B-cell acute lymphoblastic leukemia
Long-read whole-transcriptome sequencing (WTS) has the potential to precisely characterize fusion oncogenes that drive leukemia and other cancers. While there are a variety of general-purpose fusion detection algorithms that use modern long-read sequen…
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Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience
BackgroundThe availability of large volumes of data from genetic testing has enabled the interpretation of more DNA variants, contributing to a greater number of identified variants of uncertain significance (VUS). The growing number of VUS causes a bu…
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Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants
BackgroundHeterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in LDLR, APOB, APOE or PCSK9, leading to elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In the UK, HeFH affects ~1 in 288 ind…
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Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT
BackgroundPathogenic variants in the trafficking protein particle complex subunit 2 (TRAPPC2) gene are known to cause X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT), a rare hereditary cause of childhood short stature. Genetic diagnosis is …