Slavica Trajkova
A5026342806- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Autism Spectrum Disorder Research
- Genomics and Chromatin Dynamics
- Congenital heart defects research
- Chromatin Remodeling and Cancer
- Chromosomal and Genetic Variations
- Congenital limb and hand anomalies
- Peptidase Inhibition and Analysis
- Stroke Rehabilitation and Recovery
- Caveolin-1 and cellular processes
- Retinal Development and Disorders
- Cardiovascular Health and Risk Factors
- Connective tissue disorders research
- Nutritional Studies and Diet
- Protein Kinase Regulation and GTPase Signaling
- Cellular transport and secretion
- RNA regulation and disease
- ATP Synthase and ATPases Research
- CRISPR and Genetic Engineering
- Ubiquitin and proteasome pathways
- Blood Pressure and Hypertension Studies
- Orthopedic Surgery and Rehabilitation
University of Turin
2017-2024
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
2024
University of Bologna
2022
University of Verona
2022
Icahn School of Medicine at Mount Sinai
2022
Piedmont Reference Center for Epidemiology and Cancer Prevention
2017
ABSTRACT Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDDs) often carry disruptive mutations in genes that are depleted of functional variation the broader population. We build upon this observation and exome sequencing from 154,842 individuals to explore allelic diversity rare protein-coding contributing risk for ASD NDDs. Using an integrative statistical model, we jointly analyzed protein-truncating variants (PTVs), damaging missense variants,...
Abstract Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It caused pathogenic variants in the PHIP gene that encodes for Pleckstrin homology domain-interacting protein, which part of an epigenetic modifier protein complex. Therefore, we hypothesized haploinsufficiency may impact genome-wide DNA methylation (DNAm). We assessed DNAm profiles affected individuals with likely Infinium...
Abstract USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of leads to neurodevelopmental disorders in males and females. While are impacted primarily by hemizygous partial loss-of-function missense variants, females de novo heterozygous complete mutations predominate, give rise the clinically recognisable -female syndrome. Here we provide evidence contribution small in-frame deletion variants syndrome also. We scrutinise pathogenicity eleven such ten...
Abstract Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2 , encoding transcription factor required for neurodevelopment. MOWS characterized intellectual disability, epilepsy, typical facial phenotype and other anomalies, such as short stature, Hirschsprung disease, brain heart defects. Despite some recognizable features, rarity phenotypic variability may complicate its diagnosis, particularly in the neonatal period. In order to define novel...
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated PTHS, prompting the investigation of DNA methylation (DNAm) "episignature" PTHS for diagnostic purposes variant reclassification functional insights into molecular pathophysiology this disorder. A cohort 67 individuals with genetically...
Abstract Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides‐Baraister syndrome that presents facial features of blepharophimosis, developmental delay, and disability. BIS caused by pathogenic variants in SMARCA2 , encodes the catalytic subunit superfamily II helicase group BRG1 BRM‐associated factors (BAF) forming BAF complex, chromatin remodeling complex involved transcriptional regulation. Individuals bearing within bipartite...
Analysis of genomic DNA methylation by generating epigenetic signature profiles (episignatures) is increasingly being implemented in genetic diagnosis. Here we report our experience using episignature analysis to resolve both uncomplicated and complex cases neurodevelopmental disorders (NDDs). We analyzed 97 NDDs divided into (1) a validation cohort 59 patients with likely pathogenic/pathogenic variants characterized known (2) test 38 harboring unknown significance or unidentified variants....
Neurodevelopmental disorder with or without autism seizures (NEDAUS) is a neurodevelopmental characterized by global developmental delay, speech seizures, autistic features, and/or behavior abnormalities. It caused CUL3 (Cullin-3 ubiquitin ligase) haploinsufficiency. We collected clinical and molecular data from 26 individuals carrying pathogenic variants of uncertain significance (VUS) in the gene, including 20 previously unreported cases. By comparing their DNA methylation (DNAm)...
ABSTRACT Rubinstein–Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs toes, short stature, various degrees intellectual disability. The clinical presentation RSTS notably variable, making it challenging establish clear genotype–phenotype correlation, except for specific variants which cause the allelic...
Abstract Despite major technical and genetic advances, more than half of the neurodevelopmental disorders (NDDs) cases remain undiagnosed. We explored frequency non-random XCI in mothers male patients affected females from a clinically heterogeneous cohort unsolved NDD cases, negative at FRAXA, chromosomal microarray analysis Trio Exome Sequencing. hypothesize that an unbalanced could unmask previously discarded variants on X chromosome connected both to NDD. A multiplex...