Area of research
Genetics · Sensory Systems
Research interest
Research interests include Computational biology, Genetics, Disease, Biology, Gene, and Hearing loss.
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource