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1. Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

2. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

3. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

4. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

5. Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.

6. Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

7. Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.

8. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

9. Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.

11. Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

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