A5070242626- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Ion channel regulation and function
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Cutaneous lymphoproliferative disorders research
- CRISPR and Genetic Engineering
- T-cell and Retrovirus Studies
- Protein Degradation and Inhibitors
- Neuroblastoma Research and Treatments
- Chronic Lymphocytic Leukemia Research
- Epigenetics and DNA Methylation
- Cancer, Hypoxia, and Metabolism
University of Bologna
2020-2024
Instituto Nacional de Neurología y Neurocirugía
1990
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) SNP-array analysis identify both sequence copy number (SNVs CNVs) 435 individuals from 116 ASD families. identified 37 potentially damaging de novo SNVs (pdSNVs) the cases ( n = 144). Interestingly, two of them (one stop-gain one missense variant) occurred same...
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental condition with complex and heterogeneous genetic etiology. While proportion of ASD risk attributable to common variants, rare copy-number variants (CNVs) protein-disrupting single-nucleotide (SNVs) have been shown significantly contribute We analyzed homogeneous cohort 127 Italian families genotyped the Illumina PsychArray, perform an integrated analysis CNVs SNVs assess their contribution risk. observed higher burden CNVs,...
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with strong genetic component. The architecture complex, consisting of combination common low-risk and more penetrant rare variants. Voltage-gated calcium channels (VGCCs or Cav) genes have been implicated as high-confidence susceptibility for ASD, in accordance the relevant role signaling neuronal function. In order to further investigate involvement VGCCs variants ASD susceptibility, we performed whole...
Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with strong, albeit complex, genetic basis. The architecture ASD includes different models, from monogenic transmission at one end, to polygenic risk given by thousands common variants small effects the other end. mitochondrial DNA (mtDNA) was also proposed as modifier for ASD, mostly focusing on maternal mtDNA, since paternal mitogenome not transmitted offspring. We extensively studied...
Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of subset cases (~15%-30%) presenting rare large-effect variant. However, clinical interpretation in these often complicated incomplete penetrance, variable expressivity and different neurodevelopmental trajectories. NRXN1 intragenic deletions represent prototype such ASD-associated susceptibility variants. From chromosomal microarrays analysis 104 ASD individuals, we identified an...
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with strong genetic component in which rare variants contribute significantly to risk. We have performed whole genome and/or exome sequencing (WGS and WES) SNP-array analysis identify both sequence copy number (SNVs CNVs) 435 individuals from 116 ASD families. identified 37 potentially damaging de novo SNVs (pdSNVs) cases (n = 144). Interestingly, two of them (one stop-gain one missense variant) occurred the...