Area of research
Pediatrics, Perinatology and Child Health · Nephrology
Research interest
Research focused on Phenotype and Atypical hemolytic uremic syndrome, with related work in Proteinuria, Genetics, Focal segmental glomerulosclerosis. Notable publications include 'Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome', 'Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function', and 'Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies'.
Biallelic known and novel <scp><i>DCDC2</i></scp> variants in cholestatic liver disease: Phenotype–genotype observations in four children
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome
Infants Requiring Maintenance Dialysis: Outcomes of Hemodialysis and Peritoneal Dialysis
Inverted formin 2‐related Charcot‐Marie‐Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies