Area of research
Molecular Biology · Surgery
Research interest
Research interests include Biology, Genetics, Kidney development, Urinary system, Kidney disease, and Medicine.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
Heterozygous <i>FGF8</i> mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
Genome‐wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformations
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association