Area of research
Urology · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Biology, Gene, Myocardin, Phenotype, Transactivation, and Serum response factor.
Deletion of <i>CH25H</i> and <i>LIPA</i> Genes in Human Abolishes Biosynthesis of 25-Hydroxycholesterol but not of 7α,25-Dihydroxysterols and Enhances Non-enzymatic Cholesterol Oxidation: Metabolic Changes are Partially Reversed by Hematopoietic Stem Cell Transplant <sup>‡</sup>
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
Biallelic <scp> <i>TMEM260</i> </scp> variants cause truncus arteriosus, with or without renal defects
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development