Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Valerie WeitensteinerRong ZhangJulia BungenbergMatthias MarksJan GehlenDamian J RalserAlina C HilgerAmit SharmaJohannes SchumacherUlrich GembruchWaltraut M MerzAlbert BeckerJanine AltmüllerHolger ThieleBernhard G HerrmannBenjamin OdermattMichael LudwigHeiko Martin ReutterPublished in: Birth defects research (2018)
In syndromic brain malformations, WES is likely to identify causative mutations when chromosomal microarray analysis is unremarkable. Our findings suggest BAZ1A as a possible new candidate gene.