Ruchi Jain

This study shows that Kv2.1 subunits are essential for zebrafish hatching gland development and function, with their loss causing delayed hatching and secretion defects.

This study shows that Kv2.1 subunit mutations in zebrafish impair inhibitory signaling and alter visual circuit dynamics, leading to behavioral and electrophysiological changes.

The paper introduces AVDB, a database of genetic variants from Arab populations, providing pathogenicity classifications and disease burden metrics to improve genomic screening and diagnostics.

The paper shows Kv2.1 negatively regulates Scospondin secretion and Reissner fiber assembly in zebrafish through interactions with cholesterol and signaling pathways.

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

This study shows that propionate and butyrate protect neurons from hypoxia-reperfusion injury in cell and zebrafish models by reducing ROS and upregulating FABP7.

The paper studies two mutations in the zebrafish Kcng4b gene, showing how they affect Kv channel function and lead to distinct developmental defects in ear development.

This study evaluates genomic diagnostic yield and clinical impact in rare disease patients from the Middle East, finding higher yields with sequencing than microarrays and highlighting diagnostic delays due to limited access.

This study identifies rare genetic variants associated with severe COVID-19 in young Asian and Middle Eastern patients using whole exome sequencing.

This study identifies rare genetic variants in MIS-C patients from the Middle East, linking them to disease onset and treatment resistance.

The paper highlights the importance of Middle Eastern genetic variation in improving clinical genome annotation and variant interpretation by presenting a new database with unique variants not found in existing resources.

The paper identifies molecular signatures and dysregulated pathways in COVID-19 patients with varying disease severity using transcriptome sequencing of nasopharyngeal swabs.

This study identifies gene expression patterns in testicular germ cells from azoospermia patients and links disruptions to spermatogenic arrest and male infertility.