SMC3 and Roifman syndrome: We thus identified 30 genes with phenotypes relevant to Roifman Syndrome (developmental, skeletal, immune, neurocognitive and retinal); of these, the most compelling candidates were ALG12, XRCC5 and SMC3. Their expression changes in Roifman Syndrome are summarized in Table 3, showing consensus detection of markedly increased minor intron retention and correctly spliced transcript isoform reduction; finally, for all three genes, minor intron retention is predicted to result into nonsense-mediated decay (Supplementary Data 4).