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Article
Open AccessGenomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequenci...
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Article
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mu...
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Article
Open AccessMultidisciplinary investigation links backward-speech trait and working memory through genetic mutation
Case studies of unusual traits can provide unique snapshots of the effects of modified systems. In this study, we report on an individual from a Serbian family with the ability to rapidly, accurately and volun...
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Article
Open AccessA CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, play...
