J3-8205 — Final report
1.
De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise

We discovered a new gen for premature aging.

COBISS.SI-ID: 30967847
2.
Mutations in SCN3A cause early infantile epileptic encephalopathy

We discovered a new gene for early infantile epileptic encephalopathy

COBISS.SI-ID: 4688812
3.
An organismal CNV mutator phenotype restricted to early human development

We participated in description of the CNV mutator phenotype restricted in the early human development.

COBISS.SI-ID: 3827116
4.
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease

We described an impact of inclusion of several bioinformatic tools for the improvement of diagnostic yield using exome sequencing.

COBISS.SI-ID: 4601516
5.
The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

We demonstrated that CNVs contribute additional 7% to the etiology of congenital anomalies.

COBISS.SI-ID: 6760876