Maroofian R 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. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
4. Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
5. Phenotypic continuum of NFU1-related disorders
6. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
7. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
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