Molecular and Genetic Medicine

Crisafulli C

Publications

• Research Article
  Genetic Insights from a Molecular Pathway Analysis on Two Independent Samples of Autistic Patients
  Author(s): Drago A, Calabro M, Crisafulli C and Rasmussen SKDrago A, Calabro M, Crisafulli C and Rasmussen SK
  
  Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by limited interest and lacking ability in social interactions, repetitive behavior and dysfunction in social communication. ASD runs in families. Twin studies suggest a strong genetic basis for ASD. The complete definition of a genetic profile at risk for ASD is nevertheless currently lacking. Methods: NIHM-Autism datasets 3 and 4 (n=1233 and n=2890 respectively) were analyzed. A molecular pathway analysis was conducted. Quality analysis was run as usual (λ values). Plink and R (ReactomePA and Bioconductor packages) served for TDT, association tests and the molecular pathway analysis. Results and Discussion: The “Adherens junctions’ interactions pathway” and “Axon guidance” were enriched in the .. Read More»
  DOI: 10.4172/1747-0862.1000326

  Abstract PDF