Gene Discovery in Mendelian Brain Disorders

Gene Discovery in Mendelian Brain Disorders - A Center for Mendelian Genomics gene discovery study is presented that utilizes genomic approaches, which detect rare variant—single nucleotide variants (SNVs) and copy number variants (CNVs)—combined with neuroimaging and in silico analyses in human subjects with various cortical abnormalities. By analyzing a large cohort of families, several novel potential candidate genes are identified; the study allows for a better understanding of genetic netw