Department Of Translational Genomics 1

1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
3. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
4. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
5. Apoptotic cell death in disease—Current understanding of the NCCD 2023
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