Author

A. Sabo

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Review Open access Sep 2026

Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort

Purpose Children with suspected rare genetic disorders often remain undiagnosed after exome, gene panel, or chromosomal microarray testing. We sought to define recurrent missed-diagnosis mechanisms and evaluate an integrated clinical-genomic reanalysis framework. Methods We studied 75 participants with rare or striking...

Hong-Qiu Gu, A. Sabo, S. Jangam et al. · medRxiv · 0 citations

Meta-analysis of 49(cid:0)549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

This study illustrates that GWAS with high-scale imputation may still help to unravel the biological mechanism behind circulating lipid levels and identifies more new rare and low-frequency functional variants associated with circulating lipid levels.

E. V. van Leeuwen, A. Sabo, J. Bis et al. · 0 citations