Categoría: Articulos
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Two siblings with <i>CCDC32</i>-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02023-yTwo siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
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The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02025-wThe potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
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Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02028-7Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
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Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders
Acquired TERT promoter (TERTp) variants are found in the blood of patients with telomere biology disorders (TBDs) and carry diagnostic and prognostic significance. Detection of these variants is challenging due to low variant allele frequencies (VAFs) …
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Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population
ObjectiveRare subtypes of congenital adrenal hyperplasia (CAH) often present with heterogeneous and overlapping clinical features, leading to substantial diagnostic delays and misclassification. This study aimed to characterize the clinical, biochemica…
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Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities
IntroductionComprehensive care for autistic youth with severe symptoms and language impairment includes genetic testing to find underlying causes. Identifying a genetic diagnosis helps determine prognosis, guide treatment, assess recurrence risk, and c…
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Mitonuclear Discordance and Gout, Type 2 Diabetes and Chronic Kidney Disease in Aotearoa New Zealand Indigenous Māori and Pacific People
Annals of Human Genetics, EarlyView.