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    J.L. Cross, J. Iben, C.L. Simpson, A. Thurm, S. Swedo, E. Tierney, J.E. Bailey-Wilson, L.G. Biesecker, F.D. Porter, C.A. Wassif, Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets, Clinical Genetics, 2015, 87, 1