Categoría: Articulos
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Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project
European Journal of Human Genetics, Published online: 28 September 2026; doi:10.1038/s41431-026-02234-3Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project
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The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles
PurposeBiallelic EYS variants are one of the frequent causes of autosomal recessive inherited retinal disease worldwide, yet the EYS mutational landscape of Eastern European and Northern Asian populations has not been systematically described. We chara…
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Clonal Relatedness Index – Practical and Reliable Tool for Establishing Clonal Relatedness in Gastrointestinal, Hepatopancreaticobiliary and Peritoneal Carcinomas
While accepted as gold standard, conventional morphology and immunohistochemistry-based methods of determining clonal relatedness between two neoplasms are inconclusive in a subset of patients. Though NGS data can be used for this purpose, this approac…
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Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study
European Journal of Human Genetics, Published online: 25 September 2026; doi:10.1038/s41431-026-02244-1Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study
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New brain tumor test could transform diagnosis and treatment
Scientists and doctors at Newcastle are among the first in the U.K. to use a pioneering brain tumor test with the potential to speed up diagnosis for patients—from weeks to hours.
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New brain tumor test could transform diagnosis and treatment
Scientists and doctors at Newcastle are among the first in the U.K. to use a pioneering brain tumor test with the potential to speed up diagnosis for patients—from weeks to hours.