Area of research
Genetics · Molecular Biology
Research interest
Research interests include Medicine, Tamm–Horsfall protein, Biology, Endoplasmic reticulum, Internal medicine, and Kidney disease.
Nephronophthisis: a pathological and genetic perspective
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes
Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies