Psychiatry (Scholarly Publications): Recent submissions
Now showing items 41-60 of 363
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Basal forebrain volume, but not hippocampal volume, is a predictor of global cognitive decline in patients with alzheimer's disease treated with cholinesterase inhibitors
(2018)Background: Predicting the progression of cognitive decline in Alzheimer's disease (AD) is important for treatment selection and patient counseling. Structural MRI markers such as hippocampus or basal forebrain volumes ... -
Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis
(2018)While psychotic experiences (PEs) are assumed to represent psychosis liability, general population studies have not been able to establish significant associations between polygenic risk scores (PRS) and PEs. Previous work ... -
Inferring the model and onset of natural selection under varying population size from the site frequency spectrum and haplotype structure
(2019)A fundamental question about adaptation in a population is the time of onset of the selective pressure acting on beneficial alleles. Inferring this time, in turn, depends on the selection model. We develop a framework of ... -
Comment on "Nuclear genomic sequences reveal that polar bears are an old and distinct bear lineage".
(2013)Based on nuclear and mitochondrial DNA, Hailer et al. (Reports, 20 April 2012, p. 344) suggested early divergence of polar bears from a common ancestor with brown bears and subsequent introgression. Our population genetic ... -
A NOS1 variant implicated in cognitive performance influences evoked neural responses during a hight density EEG study of early visual perception.
(Wiley Open Access, 2012)Background: The nitric oxide synthasase‐1 gene (NOS1) has been implicated in mental disorders including schizophrenia and variation in cognition. The NOS1 variant rs6490121 identified in a genome wide association study of ... -
Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction
(2012)We have used a translational convergent functional genomics (CFG) approach to identify and prioritize genes involved in schizophrenia, by gene-level integration of genome-wide association study data with other genetic and ... -
A randomized controlled trial of cognitive remediation for a national cohort of forensic patients with schizophrenia or schizoaffective disorder
(2019)Background: Evidence is accumulating that Cognitive Remediation Training (CRT) is effective for ameliorating cognitive deficits experienced by patients with schizophrenia and accompanying functional impairment. There has ... -
Prospective observational cohort study of 'treatment as usual' over four years for patients with schizophrenia in a national forensic hospital.
(2018)Background: We evaluated change in response to multi-modal psychosocial ‘treatment as usual’ programs offered within a forensic hospital. Methods: Sixty nine patients with a diagnosis of schizophrenia or schizoaffective ... -
Cortical Brain Abnormalities in 4474 Individuals With Schizophrenia and 5098 Control Subjects via the Enhancing Neuro Imaging Genetics Through Meta Analysis (ENIGMA) Consortium
(2018)Background: The profile of cortical neuroanatomical abnormalities in schizophrenia is not fully understood, despite hundreds of published structural brain imaging studies. This study presents the first meta-analysis of ... -
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
(2018)Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. ... -
Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood
(Elsevier (Cell Press), 2018)Genetic correlation is a key population parameter that describes the shared genetic architecture of complex traits and diseases. It can be estimated by current state-of-art methods, i.e., linkage disequilibrium score ... -
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
(Oxford University Press, 2010)We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS. Replication was attempted in an additional cohort of 1039 ... -
Cortical patterning of abnormal morphometric similarity in psychosis is associated with brain expression of schizophrenia-related genes
(2019)Despite significant research, the biological mechanisms underlying schizophrenia are still unclear. We shed light on structural brain differences in psychosis using an approach called morphometric similarity mapping, which ... -
He said, she said: Autism spectrum diagnosis and gender differentially affect relationships between executive functions and social communication
(2019)Autism spectrum disorder is characterized by difficulties with social communication, with a preponderance in males. Evidence supports a relationship between metacognitive executive functions (e.g. planning, ... -
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
(2019)Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the ... -
Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis
(2019)Background Sequencing studies have pointed to the involvement in schizophrenia of rare coding variants in neuronally expressed genes, including activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-D-aspartate ... -
Transcriptome level analysis in Rett syndrome using human samples from different tissues
(BMC, 2018)The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to understand the ... -
Transcriptomic analysis of Mecp2 mutant mice reveals differentially expressed genes and altered mechanisms in both blood and brain
(2019)Rett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abnormalities, and seizures. The clinical presentation is typically associated ... -
Clinical and Genetic Rett Syndrome Variants are Defined by Stable Electrophysiological Profiles
(2018)Background: Rett Syndrome (RTT) is a complex neuro developmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld ...