Author

N. Shomron

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Open access Sep 2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

INTRODUCTION Rapid 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 gene therapy trials that require genetic diagnosis. Biobanks and elect...

Zippora Brownstein, Lara Kamal, Yazeed Zoabi et al. · Journal of Medical Genetics · 0 citations

Open access Aug 2026

Cross-species analysis of GNB1 I80T encephalopathy: conserved developmental, epileptic and neuronal transcriptome signatures

The integrated analysis establishes the first cross-species model for GNB1E, suggests common neurological mechanisms and molecular pathways linked to GNB1E, and provides a framework for mechanistic and therapeutic studies.

Haritha P. Reddy, Vigneshwar Ranjan, Merav Klo et al. · bioRxiv · 1 citation