Area of research
Genetics · Molecular Biology
Research interest
Research interests include Medicine, Autosomal dominant polycystic kidney disease, Polycystic kidney disease, Kidney disease, Intensive care medicine, and Nephrology.
KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
Antibiotic Prophylaxis in Infants with Grade III, IV, or V Vesicoureteral Reflux
Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease
Serum Creatinine Patterns in Neonates Treated with Therapeutic Hypothermia for Neonatal Encephalopathy
Polycystic Kidney Disease Drug Development: A Conference Report
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
In-Hospital Outcomes of Acute Kidney Injury After Pediatric Cardiac Surgery: A Meta-Analysis
Risk factors for acute kidney injury after pediatric cardiac surgery: a meta-analysis
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
Renal Precision Medicine in Neonates and Acute Kidney Injury: How to Convert a Cloud of Creatinine Observations to Support Clinical Decisions
Establishing a Core Outcome Set for Autosomal Dominant Polycystic Kidney Disease: Report of the Standardized Outcomes in Nephrology–Polycystic Kidney Disease (SONG-PKD) Consensus Workshop
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
Oxidative stress in chronic kidney disease
Prevalence of Hypertension in Children with Early-Stage ADPKD
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
Activation of Calcium-Sensing Receptor increases intracellular calcium and decreases cAMP and mTOR in PKD1 deficient cells
Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity
Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?
Altered mTOR signalling in nephropathic cystinosis
Development and validation of a CE-MS method for the targeted assessment of amino acids in urine