Categoría: Articulos
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Maternal perspectives on sharing newborn genomic data
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02258-9Maternal perspectives on sharing newborn genomic data
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Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02255-yUterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications
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RNA sequencing significantly improves <i>HYDIN</i> diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02243-2RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
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RNA sequencing significantly improves <i>HYDIN</i> diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02243-2RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
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Adult presentation of SLC29A3-related disorder spectrum with marked hypogammaglobulinemia due to a recurrent homozygous pathogenic variant (G437R): a case report
BackgroundSLC29A3-related disorder spectrum encompasses rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. The cl…
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Genotype distribution and identification of rare variants in α/β-thalassemia in chengdu: including the first report of HBA1:c.300+48C > G
ObjectiveThalassemia is among the most common inherited diseases worldwide. We aimed to analyze the genotype and frequency distribution of thalassemia in a general hospital in Chengdu and provide a reference for genetic counseling and prenatal diagnosi…
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AI tool helps identify harmful epilepsy genetic variants
A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood epilepsy will cause disease, according to a study pub…
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AI tool helps identify harmful epilepsy genetic variants
A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood epilepsy will cause disease, according to a study pub…
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Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing
Accurate detection of rare somatic mutations is essential for studying human development, aging, and disease. Based on this study, we provide recommendations for sample quality assessment and best practices for somatic mutation discovery using deep bul…
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Case Report: Prenatal diagnosis and genetic counseling for a homozygous segment spanning chromosome 6q25.3q27 with normal phenotype
BackgroundRuns of Homozygosity (ROH) are long, uninterrupted stretches of the genome in which an individual is homozygous at virtually every assayed variant. Uniparental disomy (UPD) is an epigenetic anomaly in which both copies, or a portion of a pair…