2024

Single-cell RNA-sequencing of Stria Vascularis Cell Types in the Slc26a4-/- Mouse

Improving Genetic Diagnosis Yield for Hearing Loss Through Reclassification of ClinGen Limited Evidence Genes

Using Quantitative Variant Classification to Tackle the VUS Problem in Genetic Hearing Loss

2023

Copy Number Variants in Genetic Hearing Loss

Identification of the First Pathogenic Synonymous DFNA5 Variant

TMC1 p.D569N Mutation Induces Tip-Link Aberrant Morphology & Outer Hair Cell Loss

Dual Diagnoses of Genetic Hearing Loss Identified on Multigene Panels - Considerations for Clinical Care and Genetic Counseling

2022

Defining the Genetic Landscape of STRC - Related Hearing Loss

Investigations of In Silico splice Prediction Tools in the Context of SLC26A4 Related Hearing Loss

Defining the Genetic Landscape of OTOA-Related Hearing Loss

Single-Cell RNA Sequencing Reveals Age-Associated Patterns of Hair Bundle Gene Expression

Transcriptome Profiling and Novel Isoform of the Cochlear Slc26a4-Expressing Cells

Mutation Agnostic RNA Interference with Concomitant Engineered Gene Replacement Rescues Hearing in a Mature Murine Model of DFNA36

De Novo Mutation is a Common Cause of Genetic Hearing Loss

2020

Integrating Phenotypic and Genotypic Data to Enhance Diagnosis and Clinical Care of Persons with Hearing Loss

Genetic Counselors are Critical in Providing Comprehensive and Tailored Care for Individuals with Hearing Loss and Their Families

Genetic Background Impacts the Severity of Hearing Loss in Tecta Mutant Mice

2019

Exploring Ethical and Professional Challenges Encountered by Clinical Genetic Counselors Who Are Engaged in Research