We discovered a new gen for premature aging.
COBISS.SI-ID: 30967847
We discovered a new gene for early infantile epileptic encephalopathy
COBISS.SI-ID: 4688812
We participated in description of the CNV mutator phenotype restricted in the early human development.
COBISS.SI-ID: 3827116
We described an impact of inclusion of several bioinformatic tools for the improvement of diagnostic yield using exome sequencing.
COBISS.SI-ID: 4601516
We demonstrated that CNVs contribute additional 7% to the etiology of congenital anomalies.
COBISS.SI-ID: 6760876