Irene Lee

TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).

TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.

TL;DR: It is discovered that a single OXTR polymorphism accounted for up to 10% of variation in their test performance, in both UK and Finnish populations, implying that a critical role for the oxytocin system in social recognition has been conserved across perceptual boundaries through evolution, from olfaction in rodents to visual memory in humans.

TL;DR: TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance are identified and defined as an integral component of the evolutionarily conserved retrograde IFT machinery.

TL;DR: SPCD may have clinical utility for identifying people with autistic traits that are insufficiently severe for ASD diagnosis, but who nevertheless require support, and appears to lie on the borderlands of the autism spectrum.