Categoría: Articulos
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Prevalence of <i>BRCA1/2</i> variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
European Journal of Human Genetics, Published online: 03 September 2026; doi:10.1038/s41431-026-02161-3Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
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Healthy aging shaped by more varied biology than previously thought
Molecular changes in aging are far more unique than previously thought, meaning two healthy individuals of identical age can experience significantly different aging journeys.
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Healthy aging shaped by more varied biology than previously thought
Molecular changes in aging are far more unique than previously thought, meaning two healthy individuals of identical age can experience significantly different aging journeys.
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All of Us Research Program year in review: 2025
The All of Us Research Program1 released its first genomic dataset (Curated Data Repository version 5 [CDRv5]) of almost 100,000 participants in 2022. Since then, All of Us has continued to expand the scale of its genomic offerings, releasing short-rea…
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This month in The Journal
In genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…
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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
Pilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens …
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Test-retest reliability and associations of strength and functional outcome measures in adults with spinal muscular atrophy
Background Results Conclusions
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A phenotypic paradigm for cerebral palsy genetics
Cerebral palsy (CP) is frequently linked to Mendelian disease-associated genes, but no accepted model of its genetic architecture exists. We present a phenotypic model showing statistical evidence of association for only a minority of 515 candidate gen…
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Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
IntroductionRapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of inherited cases remain unsolved, limiting eligibility for gen…
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Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
IntroductionRapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of inherited cases remain unsolved, limiting eligibility for gen…