Project description:Expression profiling of lymphoblast cell lines of autisms from Simons Simplex Families. This experiment aims to utilize blood expression data to study the functional impact and to prioritize rare variants potentially associated with autism. Total RNA obtained from lmyphoblast cell lines derived from 439 Simons Simplex Families.
Project description:Expression profiling of lymphoblast cell lines of autisms from Simons Simplex Families. This experiment aims to utilize blood expression data to study the functional impact and to prioritize rare variants potentially associated with autism.
Project description:Comparison of whole genome exome array CGH to a commercial SNP array for detection of de novo and homozygous copy number variants in 99 autism simplex trios. Will update once manuscript is prepared.
Project description:Whole Exome sequencing of two patients with Cardiac angiosarcoma in Li-Fraumeni-like families discovers that a mutation in the pot1 gene is responsible for cardiac angiosarcoma in tp53-negative li-fraumeni-like families
