- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genetics in Medicine. 2019 Academic Article GET IT
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genetics in Medicine.
Times cited: 24
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
Times cited: 99