CREBBP and Neurodevelopmental delay: For example, we identified a potential mosaic LGD variant in MACF1, which is highly constrained (pLI = 1), plays essential roles in neurodevelopment, functions through the previously implicated Wnt signaling pathway,24 and has been recently suggested as a candidate gene based on a dnLGD variant in a Japanese ASD cohort.25 In CREBBP, which reached genome-wide significance in a recent NDD meta-analysis,16 we identified a potential mosaic missense variant, in addition to two other germline de novo missense variants in SPARK, adding to the evidence that it is an ASD/NDD risk factor.