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.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
Whole-genome sequencing of patients with rare diseases in a national health system
Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome
Germline selection shapes human mitochondrial DNA diversity.
LDL-apheresis-induced remission of focal segmental glomerulosclerosis recurrence in pediatric renal transplant recipients
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
B cell–derived IL-4 acts on podocytes to induce proteinuria and foot process effacement
FAT1 mutations cause a glomerulotubular nephropathy
MAGI2 Mutations Cause Congenital Nephrotic Syndrome
Genes and Podocytes – New Insights into Mechanisms of Podocytopathy
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease
Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence
Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome
Acute Presentation and Persistent Glomerulonephritis Following Streptococcal Infection in a Patient With Heterozygous Complement Factor H–Related Protein 5 Deficiency