title: Using iPSCs and genomics to catch CNVs in the act.
abstract: Large copy number variants (CNVs) are strongly associated with morphogenetic processes and common neurodevelopmental disorders. A new study uses the example of Williams-Beuren syndrome (WBS) and Williams-Beuren region duplication syndrome to illustrate how induced pluripotent stem cells (iPSCs) and next-generation genomics can lead to a better understanding of complex genetics.
authors: Departments of Psychiatry and Behavioral Sciences and the Department of Genetics, Stanford University, Stanford, California, USA.
authors: Alexander Eckehart
authors: AE
authors: Urban
authors: Departments of Psychiatry and Behavioral Sciences and the Department of Genetics, Stanford University, Stanford, California, USA.
authors: Carolin
authors: C
authors: Purmann
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D056915:DNA Copy Number Variations; D005786:Gene Expression Regulation / Q000235:genetics*; D006801:Humans; D039904:Pluripotent Stem Cells / Q000502:physiology*; D019473:Transcription Factors, TFII / Q000235:genetics*; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: C104259:GTF2I protein, human; D019473:Transcription Factors, TFII