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Article
Open AccessPCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia
The neuronal primary cilium and centriolar satellites have functions in neurogenesis, but little is known about their roles in the postnatal brain. We show that ablation of pericentriolar material 1 in the mou...
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Article
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
The influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remain unclear. We performed a systematic secondary-va...
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Article
Open AccessMutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as o...
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Article
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
Genome-wide association studies (GWAS) have identified over 100 risk loci for schizophrenia, but the causal mechanisms remain largely unknown. We performed a transcriptome-wide association study (TWAS) integra...
