Gladys E. Zapata

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

This study evaluates ultra-high-depth RNA-seq for Mendelian disorder diagnostics, showing improved detection of low-abundance transcripts and splicing variants, and introduces a resource to guide sequencing depth selection.

Clinical validation of RNA sequencing for Mendelian disorder diagnostics

This study validates a clinical RNA-seq test for diagnosing Mendelian disorders using 150 samples, achieving over 99% sensitivity and specificity.

Histone proteoform analysis reveals epigenetic changes in adult mouse brown adipose tissue in response to cold stress

The paper quantifies histone modifications and DNA methylation in mouse BAT under different cold conditions, revealing epigenetic changes linked to thermogenic response.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

Capture-based DNA methylation sequencing facilitates diagnosis and reveals potential pathogenic mechanisms in teratogenic diabetes exposure

This study uses DNA methylation analysis to identify diagnostic biomarkers and pathogenic mechanisms in diabetic embryopathy.