Marie Shaw

TL;DR: Twenty-five genes showing a bias for autism versus intellectual disability and a network associated with high-functioning autism are highlighted, and clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.

TL;DR: It is suggested that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X- Chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.

TL;DR: This is the first XLMR gene to be reported that encodes a posttranslational modification enzyme, palmitoyltransferase, and it suggests that alterations in the concentrations and cellular distribution of target proteins are sufficient to cause disease.

TL;DR: To diagnose patients with ID in the absence of parental DNA, it is recommended that investigation of all LoF variants in known genes that cause ID and assessment of a limited list of proven pathogenic missense variants in these genes are investigated.