Publications by authors named "Utku Norman"
The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases.
View Article and Find Full Text PDFArticle Synopsis
- The largest exome sequencing study of autism spectrum disorder (ASD) analyzed 35,584 samples, including 11,986 individuals diagnosed with ASD.
- Researchers identified 102 risk genes linked to the disorder, with a focus on how these genes behave differently in those with severe neurodevelopmental delays versus those with ASD.
- Most of these risk genes are involved in regulating gene expression and neuronal communication, suggesting that mutations can lead to neurodevelopmental issues and an imbalance between excitatory and inhibitory neurons in the brain.
Motivation: Whole exome sequencing (WES) studies for autism spectrum disorder (ASD) could identify only around six dozen risk genes to date because the genetic architecture of the disorder is highly complex. To speed the gene discovery process up, a few network-based ASD gene discovery algorithms were proposed. Although these methods use static gene interaction networks, functional clustering of genes is bound to evolve during neurodevelopment and disruptions are likely to have a cascading effect on the future associations.
View Article and Find Full Text PDF