Categoría: Articulos
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Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report
IntroductionGastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare autosomal dominant familial gastric cancer syndrome. GAPPS is caused by pathogenic variant in the regulatory region of APC. This study describes the first Korean…
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Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
BackgroundPotocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion of this same region is responsibl…
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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
European Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02054-5Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decis…
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Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
European Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02036-7Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
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Genetic Bases of Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures in two or more body areas resulting from reduced or absent fetal movements. AMC exhibits marked phenotypic and genetic heterogeneity, as it is a symptom rather t…
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A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02047-4A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
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“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02041-w“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health educatio…
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Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02046-5Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
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Flexible and rapid validation of structural variation using adaptive sampling
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02039-4Flexible and rapid validation of structural variation using adaptive sampling