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Human Genetics - 2025
12 articles | Last updated: 2025-12-03 14:12:56
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Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants
Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance
Conventional and genetic association between migraine and stroke with druggable genome-wide Mendelian randomization
Human organoids for rapid validation of gene variants linked to cochlear malformations
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns