Publications by authors named "E Sukarova-Angelovska"
Article Synopsis
- The study investigates the use of genomic DNA methylation analysis, or episignature profiling, in diagnosing neurodevelopmental disorders (NDDs) by evaluating two cohorts of patients: one with known pathogenic variants and another with uncertain mutations.
- In the validation group of 59 patients, 90% exhibited expected episignatures, although some variants displayed overlapping profiles due to similar clinical symptoms.
- In the test cohort of 38 patients, five cases identified novel pathogenic variants and confirmed diagnoses for conditions such as Cornelia de Lange syndrome, highlighting the potential of episignature analysis to tackle complex genetic diagnosis challenges.
Article Synopsis
- - Neurofibromatosis type 1 (NF1) is a genetic disorder that causes skin changes, tumors, and issues with the nervous system, linked to over 3,100 reported mutations in the NF1 gene.
- - A study in North Macedonia analyzed 30 patients suspected of having NF1, identifying 28 unique mutations, 10 of which were new to science, and found connections between gene variants and cognitive impairment.
- - This research highlights the importance of genetic testing for accurate diagnosis in NF1, especially for younger individuals, and adds valuable data to the understanding of NF1 mutations globally.
Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after extensive evaluation. A point in case is our clinically heterogeneous cohort of NDD patients that remained undiagnosed after FRAXA testing, chromosomal microarray analysis and trio exome sequencing (ES). In this study, we explored the frequency of non-random X chromosome inactivation (XCI) in the mothers of male patients and affected females, the rationale being that skewed XCI might be masking previously discarded genetic variants found on the X chromosome.
View Article and Find Full Text PDFIndividuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies.
View Article and Find Full Text PDFThe knowledge about genetic involvement in neurodevelopmental disorders, and especially in autism, is currently rising. To date, more than 100 gene mutations related to autistic syndromes have been described. Some disorders that affect multiple family members are caused by gene mutations, which can be inherited.
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