https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:574 Thu 25 Jul 2013 09:10:29 AEST ]]> The adult phenotype in Costello syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:619 Thu 25 Jul 2013 09:10:22 AEST ]]> A polygenic resilience score moderates the genetic risk for schizophrenia: Replication in 18,090 cases and 28,114 controls from the Psychiatric Genomics Consortium https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:54811 Thu 14 Mar 2024 14:24:56 AEDT ]]> Gene profiling in the amygdala in schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:3035 Sat 24 Mar 2018 08:30:00 AEDT ]]> Altered expression of brain related genes in lymphocytes in schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:3070 Sat 24 Mar 2018 08:29:16 AEDT ]]> Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:29641 Sat 24 Mar 2018 07:41:54 AEDT ]]> Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47570 Mon 23 Jan 2023 13:46:48 AEDT ]]> A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42814 Mon 05 Sep 2022 14:06:54 AEST ]]> Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42186 n = 3,473) by performing identity-by-descent (IBD) mapping followed by exome sequencing of individuals identified as sharing risk haplotypes to search for rare risk variants in coding regions. We identified 45 rare haplotypes (>1 cM) that were significantly more common in cases than controls. By exome sequencing 105 haplotype carriers, we investigated these haplotypes for functional coding variants that could be tested for association in independent GWAS samples. We identified one rare missense variant in PCNT but did not find statistical support for an association with schizophrenia in a replication analysis. However, IBD mapping can prioritize both individual samples and genomic regions for follow-up analysis but genome rather than exome sequencing may be more effective at detecting risk variants on rare haplotypes.]]> Fri 26 Aug 2022 10:49:17 AEST ]]>