Area of research
Nephrology · Molecular Biology
Research interest
Research interests include Renal Diseases and Glomerulopathies, Renal and related cancers, Chronic Kidney Disease and Diabetes, and Genomics and Rare 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
A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( <i>DSP</i> ) Truncating Variant
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
A working partnership: A review of shared <scp>decision‐making</scp> in nephrology
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
MAGI2 Mutations Cause Congenital Nephrotic Syndrome
Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence
Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome