Area of research
Genetics · Molecular Biology
Research interest
Research interests include Kidney disease, Medicine, PKD1, Autosomal dominant polycystic kidney disease, Polycystic kidney disease, and Tamm–Horsfall protein.
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
#3166 RECOGNITION OF RENAL TUBULAR DYSGENESIS IN ADOLESCENT CKD BY BIALLELIC AGT VARIANTS REQUIRED BROAD GENETIC ANALYSIS
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin