Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing
Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefania Bigoni, Stefania Boni, Ombretta Carlet, Susanna Negrin, Isabella Mammi, Donatella Milani, Angela Peron, Stefano Sartori, , Emanuela Leonardi
The paper develops a low-cost NGS gene panel for diagnosing intellectual disability and autism spectrum disorder, achieving a 27% diagnostic yield in 150 patients.
Human Mutation · Jun 18, 2019Peer-reviewedGenetics