Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic and Kidney Cyst Diseases, Renal and related cancers, Biomedical Research and Pathophysiology, and Genetic Syndromes and Imprinting.
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Design and Basic Characteristics of a National Patient-Powered Registry in ADPKD
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan
Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
Hair-Cell Mechanotransduction Persists in TRP Channel Knockout Mice
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism
A Pkd1-Fbn1 Genetic Interaction Implicates TGF-β Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease