Area of research
Molecular Biology · Genetics
Research interest
Research interests include Genetic and Kidney Cyst Diseases, Renal and related cancers, RNA Research and Splicing, and Kruppel-like factors research.
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes