Area of research
Nephrology · Genetics
Research interest
Research interests include Biology, Nephrotic syndrome, Gene knockdown, Genetics, Phenotype, and Medicine.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
Genetic testing in steroid-resistant nephrotic syndrome: when and how?
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome