Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Kerry A MillerStephen R F TwiggSimon J McGowanJulie M PhippsAimée L FenwickDavid JohnsonSteven A WallPeter NoonsKatie E M ReesElizabeth A TideyJudith CraftJohn TaylorJenny C TaylorJacqueline A C GoosSigrid M A SwagemakersIrene M J MathijssenPeter J van der SpekHelen LordTracy LesterNoina AbidDeirdre CilliersJane A HurstJenny E V MortonElizabeth SweeneyAstrid WeberLouise C WilsonAndrew O M WilkiePublished in: Journal of medical genetics (2016)
This substantial genetic heterogeneity, and the multiple actionable mutations identified, emphasises the benefits of exome/whole genome sequencing to identify causal mutations in craniosynostosis cases for which routine clinical testing has yielded negative results.