Saima Riazuddin

This study shows that MSRB3 is essential for maintaining inner ear structure and hair bundle integrity in mice, with its antioxidant activity protecting actin redox dynamics.

The paper investigates the distinct roles of CIB2 and whirlin in cochlear stereocilia development and shows that CIB2 has independent functions from whirlin in maintaining the staircase pattern.

The paper shows that CIB2/3 and TMC1/2 form complexes essential for hair-cell mechanotransduction in vertebrates, supported by structural and functional analyses.

This study investigates the role of CIB2 in mechanotransducer channels of cochlear outer hair cells, finding that a mutation alters channel properties and force sensitivity.

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

The paper describes a potential therapy for PCDH15-associated Usher syndrome using exogenous retinoids in a mouse model, showing improved ERG amplitudes.

The paper identifies four novel pathogenic variants in COCH causing autosomal recessive nonsyndromic hearing loss and shows non-truncating variants affect RNA-splicing.