Area of research
Genetics · Nephrology
Research interest
Research interests include Renal and related cancers, Renal Diseases and Glomerulopathies, Genomics and Rare Diseases, and Genetic and Kidney Cyst Diseases.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
Genomic Testing in Patients with Kidney Failure of an Unknown Cause
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Missense variants in <i>TAF1</i> and developmental phenotypes: Challenges of determining pathogenicity
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant