Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic and Kidney Cyst Diseases, Renal and related cancers, Renal Diseases and Glomerulopathies, and Pediatric Urology and Nephrology Studies.
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants
Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group
Epigenetic silencing and CRISPR-mediated reactivation of tight junction protein claudin10b (CLDN10B) in renal cancer
SGLT2-Inhibition in Patients With Alport Syndrome
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140
Kidney transplantation in patients with polycystic kidney disease: increased risk of infection does not compromise graft and patient survival
Renal Recovery for Patients with ANCA-Associated Vasculitis and Low eGFR in the ADVOCATE Trial of Avacopan
The impact of treatment with avacopan on health-related quality of life in antineutrophil cytoplasmic antibody-associated vasculitis: a post-hoc analysis of data from the ADVOCATE trial
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
Urinary stone disease: closing the heritability gap by challenging conventional Mendelian inheritance
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
Cystinuria: clinical practice recommendation
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
FAT1 mutations cause a glomerulotubular nephropathy
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association
<i>IFT81</i>, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis