Frederick G. Otieno

TL;DR: Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.

TL;DR: It is suggested that novel variations involving the processes of synaptic transmission contribute to the genetic susceptibility of schizophrenia.

TL;DR: The studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene and further studies of the crosstalk between PDG FRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM.

TL;DR: This study represents one of the first whole-genome sequencing studies in autism leveraging a large family-based pedigree and identifies seven candidate genes shared by the two probands and identifies 33 prioritized non-coding variants such as those near SMG6 and COQ5, based on evolutionary constraint and experimental evidence from ENCODE.

TL;DR: This study identified a family quartet with two children, both affected with a previously unreported disease, characterized by progressive muscular weakness and cardiomyopathy, with normal intelligence, with the most likely candidate gene, RBCK1, a gene encoding an E3 ubiquitin-protein ligase, with two protein-truncating mutations in probands in the first family.