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Parental age, birth order and neurodevelopmental disorders
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Open AccessDisrupted in schizophrenia 1 (DISC1) L100P mutants have impaired activity-dependent plasticity in vivo and in vitro
Major neuropsychiatric disorders are genetically complex but share overlap** etiology. Mice mutant for rare, highly penetrant risk variants can be useful in dissecting the molecular mechanisms involved. The ...
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Article
Open AccessThe phenotypic manifestations of rare genic CNVs in autism spectrum disorder
Significant evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder (ASD); however, most of this work has focused solely on the diagnosis of ASD. There is limited u...
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Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic region...
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Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2
We and others have previously reported linkage to schizophrenia on chromosome 10q25–q26 but, to date, a susceptibility gene in the region has not been identified. We examined data from 3606 single-nucleotide p...
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DAOA ARG30LYS and verbal memory function in schizophrenia
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Confirmation and refinement of an ‘at-risk’ haplotype for schizophrenia suggests the EST cluster, Hs.97362, as a potential susceptibility gene at the Neuregulin-1 locus
Two recent association studies have implicated the neuregulin-1 gene (NRG1) at chromosome 8p21–22 as a susceptibility gene for schizophrenia. Stefansson et al identified three ‘at-risk’ haplotypes (HapA, B and C)...