https://ogma.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Alternative diffusion anisotropy measures for the investigation of white matter alterations in 22q11.2 deletion syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:43757 Wed 28 Sep 2022 15:23:21 AEST ]]> Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46821 CRKL. A total of 45 of the 62 variants were associated with increased risk for CTDs (odds ratio [OR) ranges: 1.64–4.75). Associations of four variants were replicated in a meta-analysis of three genome-wide association studies of CTDs in affected individuals without 22q11.2DS. One of the replicated variants, rs178252, is located in an open chromatin region and resides in the double-elite enhancer, GH22J020947, that is predicted to regulate CRKL (CRK-like proto-oncogene, cytoplasmic adaptor) expression. Approximately 23% of patients with nested LCR22C-D deletions have CTDs, and inactivation of Crkl in mice causes CTDs, thus implicating this gene as a modifier. Rs178252 and rs6004160 are expression quantitative trait loci (eQTLs) of CRKL. Furthermore, set-based tests identified an enhancer that is predicted to target CRKL and is significantly associated with CTD risk (GH22J020946, sequence kernal association test (SKAT) p = 7.21 × 10−5) in the 22q11.2DS cohort. These findings suggest that variance in CTD penetrance in the 22q11.2DS population can be explained in part by variants affecting CRKL expression.]]> Wed 13 Mar 2024 15:07:07 AEDT ]]> Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45604 Wed 02 Nov 2022 14:06:59 AEDT ]]> Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:40876 Thu 28 Jul 2022 15:46:17 AEST ]]> Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38442 Thu 18 Nov 2021 10:15:18 AEDT ]]> Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 deletion syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:17582 Sat 24 Mar 2018 08:03:58 AEDT ]]> Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:24111 Sat 24 Mar 2018 07:11:41 AEDT ]]> Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:41596 Fri 05 Aug 2022 14:58:18 AEST ]]>