In this Review, we summarize the literature for the nine disorders in Table 1 with particular emphasis on the findings that appear to meet community standards for replication in human genetics (i.e., robustly significant with consistent effects across samples). 6 We highlight new hypotheses that have emerged across the allelic spectrum including de novo and rare exonic mutations, rare SV, and common variation from GWAS. Critically, these results provide empirical insights into the genetic architectures of these disorders, data that are essential to guiding future work in this area.
