Categoría: Articulos
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Personal utility of genomic results: Application and validation of the PrU scale to the Australian context
European Journal of Human Genetics, Published online: 21 February 2026; doi:10.1038/s41431-026-02052-7Personal utility of genomic results: Application and validation of the PrU scale to the Australian context
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Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinent
European Journal of Human Genetics, Published online: 20 February 2026; doi:10.1038/s41431-026-02056-3Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinent
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Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review
BackgroundHereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a progressive multisystem disorder caused by pathogenic TTR variants. Aim of this study is to delineate the clinical and genetic feature of ATTRv-PN in China and to evalua…
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<i>TMC6/8</i>-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome
European Journal of Human Genetics, Published online: 18 February 2026; doi:10.1038/s41431-026-02043-8TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposit…
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An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease
European Journal of Human Genetics, Published online: 18 February 2026; doi:10.1038/s41431-026-02027-8An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease
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Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families
The DMD gene, the largest gene in the human genome, is particularly prone to exonic deletions or duplications due to recombination events during gametogenesis, with frameshift deletions typically seen in Duchenne muscular dystrophy (DMD) and in-frame d…
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High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with extensive allelic heterogeneity. Although RNA-based assays can increase sensitivity, their cost and complexity limit their routine use. A DNA-only tiered diagnostic approach wa…
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Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections
BackgroundHeterozygous variants in the ZEB2 gene are known to cause Mowat–Wilson syndrome (MWS). The classical clinical spectrum of MWS includes characteristic facial features, intellectual disability, epilepsy, Hirschsprung disease (HSCR), and various…
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A homozygote mutation in <i>RPA2</i> associated with bone marrow failure, immunodeficiency, and telomere biology disorder
European Journal of Human Genetics, Published online: 17 February 2026; doi:10.1038/s41431-026-02035-8A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder