Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic and Kidney Cyst Diseases, Hedgehog Signaling Pathway Studies, Genetic Syndromes and Imprinting, and Renal and related cancers.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders