ORCID Profile
0000-0002-5877-2164
Current Organisations
National Human Genome Research Institute
,
Queensland University of Technology (QUT)
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Publisher: Informa UK Limited
Date: 12-09-2015
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 05-2008
DOI: 10.1161/STROKEAHA.107.502930
Abstract: Background and Purpose— Evidence supports a substantial genetic contribution to the risk of intracranial aneurysm (IA). The purpose of this study was to identify chromosomal regions likely to harbor genes that contribute to the risk of IA. Methods— Multiplex families having at least 2 in iduals with “definite” or “probable” IA were ascertained through an international consortium. First-degree relatives of in iduals with IA who were at increased risk of an IA because of a history of hypertension or present smoking were offered cerebral magnetic resonance angiography. A genome screen was completed using the Illumina 6K SNP system, and the resulting data from 192 families, containing 1155 genotyped in iduals, were analyzed. Narrow and broad disease definitions were used when testing for linkage using multipoint model-independent methods. Ordered subset analysis was performed to test for a gene×smoking (pack-years) interaction. Results— The greatest evidence of linkage was found on chromosomes 4 (LOD=2.5 156 cM), 7 (LOD=1.7 183 cM), 8 (LOD=1.9 70 cM), and 12 (LOD=1.6 102 cM) using the broad disease definition. Using the average pack-years for the affected in iduals in each family, the genes on chromosomes 4 (LOD=3.5 P =0.03), 7 (LOD=4.1 P =0.01) and 12 (LOD=3.6 P =0.02) all appear to be modulated by the degree of smoking in the affected members of the family. On chromosome 8, inclusion of smoking as a covariate did not significantly strengthen the linkage evidence, suggesting no interaction between the loci in this region and smoking. Conclusions— We have detected possible evidence of linkage to 4 chromosomal regions. There is potential evidence for a gene×smoking interaction with 3 of the loci.
Publisher: Springer Science and Business Media LLC
Date: 14-10-2023
Publisher: SAGE Publications
Date: 13-01-2015
Abstract: Listening to and reflecting on the voices and personal stories of adolescent students with an autism spectrum disorder (ASD) is critically important to developing more inclusive approaches to their education. This article considers the experiences of nine adolescents with an ASD on their inclusive education in a large urban secondary school in Australia. These educational experiences were mapped onto four themes emanating from a similar study by Humphrey and Lewis from the United Kingdom. The results from both studies suggest that although students with ASD are having positive and enabling educational experiences, a number of common inhibitors continue to prevent them from taking full advantage of their schooling. By listening to the voices of students with ASD, specific enablers and inhibitors to promoting successful educational experiences are identified, and recommendations for practice are put forward to better support the education not only of students with ASD but all students.
Publisher: Cambridge University Press (CUP)
Date: 12-2011
Abstract: Supporting students with autism spectrum disorders (ASDs) in inclusive settings presents both opportunities and significant challenges to school communities. This study, which explored the lived experience of nine students with ASD in an inclusive high school in Australia, is based on the belief that by listening to the voices of students, school communities will be in a better position to collaboratively create supportive learning and social environments. The findings of this small-scale study deepen our knowledge from the student perspective of the inclusive educational practices that facilitate and constrain the learning and participation of students with ASD. The students' perspectives were examined in relation to the characteristics of successful inclusive schools identified by Kluth (2003). Implications for inclusive educational practice that meets the needs of students with ASD are presented.
Publisher: Informa UK Limited
Date: 11-11-2019
Publisher: Informa UK Limited
Date: 14-05-2021
Publisher: Wiley
Date: 1998
DOI: 10.1002/(SICI)1098-2272(1998)15:4<391::AID-GEPI5>3.0.CO;2-5
Abstract: Alcohol-induced driving impairment can occur with any departure from a zero-blood alcohol concentration (BAC). Because intoxication is characterised by impaired judgement, drivers under the influence of alcohol may overestimate their capacity to safely operate a vehicle. This study examined the effects of alcohol on driving performance, four-choice reaction time (FCRT), and self-rated confidence in driving ability. It specifically focused on alcohol doses equal to commonly enforced legal BAC limits (i.e. 0.05% and 0.08%). A randomized, double-blind, placebo-controlled design was utilised. Seventeen participants were tested in three conditions: placebo and two alcohol conditions aiming for BACs of 0.05% and 0.08%. Participants underwent a baseline FCRT task and a 1-h simulated highway driving task before completing another FCRT task and rated their confidence in their driving ability. The high and low alcohol dose conditions resulted in a mean BAC of 0.07%, and 0.04%, respectively (n = 17). The high BAC treatment significantly increased standard deviation of lateral position (SDLP) by 4.06 ± 5.21 cm and standard deviation of speed (SDS) by 0.69 ± 0.17 km/h relative to placebo, while confidence in driving ability remained unchanged across treatments. FCRT performance was impaired by the high BAC treatment (all < 0.01), but there we no significant differences between placebo and low BAC conditions. The findings of this study show that driving performance and associated psychomotor functioning become significantly impaired below legally permissible driving limits in some jurisdictions. We identified a dissociation between driving performance and subjective awareness of impairment. Despite a significantly diminished driving ability at 0.07% BAC, drivers were unaware of their impairment.
Publisher: Elsevier BV
Date: 08-2004
DOI: 10.1086/422475
Publisher: Elsevier BV
Date: 08-2013
Publisher: Informa UK Limited
Date: 1995
Publisher: Informa UK Limited
Date: 03-02-2022
Publisher: Elsevier BV
Date: 04-2008
Publisher: Oxford University Press (OUP)
Date: 07-03-2013
DOI: 10.1093/HMG/DDT116
Publisher: Informa UK Limited
Date: 21-09-2021
Publisher: Springer Science and Business Media LLC
Date: 28-05-2018
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 28-04-2021
DOI: 10.1167/IOVS.62.5.7
Publisher: Springer Science and Business Media LLC
Date: 24-05-2011
DOI: 10.1038/MP.2011.59
Publisher: American Medical Association (AMA)
Date: 06-2021
Publisher: Informa UK Limited
Date: 03-2008
Publisher: Informa UK Limited
Date: 26-05-2017
Publisher: Springer Science and Business Media LLC
Date: 19-03-2020
DOI: 10.1038/S42003-020-0802-Y
Abstract: Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 in iduals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11 / FBLN2 rs2630445, RBP3 rs11204213) others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.
Publisher: Springer Science and Business Media LLC
Date: 23-01-2022
DOI: 10.1007/S12310-022-09501-W
Abstract: Tackling mental health difficulties in adolescents on the autism spectrum requires a comprehensive prevention approach. A 3-year multisite proof-of-concept longitudinal study implemented an evidence-based multilevel resilience intervention in schools to promote protective factors at the adolescent, parent, and school level. The intervention, consisting of the adolescent, parent and teacher components of the Resourceful Adolescent Program–Autism Spectrum Disorder (RAP-ASD) augmented with the Index for Inclusion, was implemented in 6 secondary schools with 30 adolescents with an autism diagnosis in Grades 7 and 8, 31 parents of 23 of the adolescents, and school staff. The intervention was implemented with good validity and acceptability. Quantitative data from adolescents and parents were analysed using the Reliable Change Index, and qualitative data were analysed using Consensual Qualitative Research. Triangulated quantitative and qualitative outcomes from the majority of adolescents and their parents showed some evidence for promoting resilience for adolescents with a diagnosis or traits of autism, as reflected in reliable improvements in coping self-efficacy and school connectedness, and a reduction in anxiety symptoms and emotional and behavioural difficulties. A reliable improvement in depressive symptoms was more modest and was only achieved by a small minority of adolescents. This multilevel, strength-focused, resilience-building approach represents a promising and sustainable school-based primary prevention program to improve the quality of life for adolescents on the spectrum by promoting their mental health and providing their families with much needed support.
Publisher: Informa UK Limited
Date: 1995
Publisher: Springer Science and Business Media LLC
Date: 16-02-2010
DOI: 10.1038/MP.2010.6
Abstract: Attention-Deficit/Hyperactivity Disorder (ADHD) has a very high heritability (0.8), suggesting that about 80% of phenotypic variance is due to genetic factors. We used the integration of statistical and functional approaches to discover a novel gene that contributes to ADHD. For our statistical approach, we started with a linkage study based on large multigenerational families in a population isolate, followed by fine mapping of targeted regions using a family-based design. Family- and population-based association studies in five s les from disparate regions of the world were used for replication. Brain imaging studies were performed to evaluate gene function. The linkage study discovered a genome region harbored in the Latrophilin 3 gene (LPHN3). In the world-wide s les (total n=6360, with 2627 ADHD cases and 2531 controls) statistical association of LPHN3 and ADHD was confirmed. Functional studies revealed that LPHN3 variants are expressed in key brain regions related to attention and activity, affect metabolism in neural circuits implicated in ADHD, and are associated with response to stimulant medication. Linkage and replicated association of ADHD with a novel non-candidate gene (LPHN3) provide new insights into the genetics, neurobiology, and treatment of ADHD.
Publisher: SAGE Publications
Date: 1996
DOI: 10.1177/01454455960201003
Abstract: Functional communication training was used to replace multiply determined problem behavior in two boys with autism. Experiment 1 involved a functional analysis of several topographies of problem behavior using a variation of the procedures described by lwata, Dorsey, Slifer, Bauman, and Richman. Results suggested that aggression, self-injury, and disruption were multiply determined (i.e., maintained by both attention and access to preferred objects). Experiment 2 involved a multiple-baseline design across subjects. The focus of intervention was to replace aggression, self-injury, and disruption with functionally equivalent communicative alternatives. Both boys were taught altemative "mands" to recruit attention and request preferred objects. Acquisition of these altemative communication skills was associated with concurrent decreases in aggression, self-injury, and disruption. Results suggest that multiply determined challenging behavior can be decreased by teaching an alternative communication skill to replace each assessed function of the problem behavior.
Publisher: Springer Science and Business Media LLC
Date: 05-06-2012
Publisher: IEEE
Date: 11-2013
Publisher: Public Library of Science (PLoS)
Date: 18-09-2014
Publisher: Springer Science and Business Media LLC
Date: 03-04-2015
Publisher: Informa UK Limited
Date: 30-04-2019
Publisher: Springer Science and Business Media LLC
Date: 31-08-2014
DOI: 10.1038/NG.3087
Publisher: Springer Science and Business Media LLC
Date: 03-01-2023
DOI: 10.1038/S42003-022-04323-7
Abstract: Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. In iduals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP , the circadian rhythm gene PER3 , and P4HTM , which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions.
Publisher: Springer Science and Business Media LLC
Date: 06-09-2022
DOI: 10.1007/S40489-022-00341-7
Abstract: School buses facilitate access to education for many children. This research aimed to systematically review factors associated with safe school bus transportation for children with neurodevelopmental disorders (NDDs). Searches of 5 databases, combining terms denoting NDDs and school buses, for English publications since 2000, yielded only 12 relevant articles among 1524 records. Literature was limited to parent-based studies, guidelines, reviews or commentaries. There was scant attention to the immediate roles of bus drivers and aides. Literature recommendations included increased attention to the needs of children with NDDs and improved communication, collaboration, support and training across all key stakeholders, particularly to improve implementation of in idual child safety plans. Further research is needed on this critical support service for many families.
Publisher: Informa UK Limited
Date: 31-01-2021
Publisher: Bentham Science Publishers Ltd.
Date: 16-05-2018
DOI: 10.2174/1389200219666180305151011
Abstract: The plant Nardostachys jatamansi from Valerianaceae family is a well known antidepressant plant and has historically been used in traditional medicine. As N. jatamansi contains many different compounds, to identify its mechanisms of action, we need a network-based study. Network-based studies are becoming an increasingly important tool in understanding the mechanisms of actions of drugs. Systems pharmacology (SP) and bioinformatics are two emerging tools that use computation to develop an understanding of drug actions in molecular and cellular levels. SP can provide mechanistic understanding of protein-protein (drug-target) interaction involved in a common biological pathway. The present study was undertaken to identify unknown targets and mechanisms of antidepressant activity of N. jatamansi according to a systems pharmacology approach. First of all a list of all the targets (receptors and metabolites) involved in depression process were provided based on KEGG database. The 3D structures of protein targets were collected as PDB files and their active sites coordinates were found. In the next step the structures of known compounds of N. jatamansi were collected. For identifying the protein-lagand interactions, a docking process was run in AutoDock and an output was received. To complete our study, the similarity between antidepressant conventional drugs and N. jatamansi compounds was analyzed. A SP map figured by Cytoscape Software, shows the relations between herbal compounds, molecular targets and depression. According to the docking results, we can suggest several important targets that we have no drugs for, or several natural compounds that play an important role in depression process. According to the similarity results we can suggest several molecules for extraction or synthesis that need more researches for their therapeutic effects. This study shows that how N. jatamansi can effect on depression by multiple molecular targeting with multiple compounds.
Publisher: Springer Science and Business Media LLC
Date: 04-11-2014
Publisher: Wiley
Date: 26-10-2016
DOI: 10.1002/GEPI.21936
Publisher: Springer Science and Business Media LLC
Date: 10-02-2013
DOI: 10.1038/NG.2554
Publisher: Informa UK Limited
Date: 19-12-2015
Publisher: Springer Science and Business Media LLC
Date: 13-05-2016
DOI: 10.1038/SREP25853
Abstract: Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7–15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E–08) and 2.3% (P = 6.9E–21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry s les (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4 P = 6.3E–04).
Publisher: Wiley
Date: 18-04-2021
DOI: 10.1111/JOSH.13020
Publisher: Elsevier BV
Date: 08-2003
DOI: 10.1086/377140
Abstract: Over the past 20 years, the incidence of cutaneous malignant melanoma (CMM) has increased dramatically worldwide. A positive family history of the disease is among the most established risk factors for CMM it is estimated that 10% of CMM cases result from an inherited predisposition. Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM. Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which CDKN2A and CDK4 involvement has been excluded. The highest two-point parametric LOD score (1.82 recombination fraction [theta] 0.2) was obtained at D1S2726, which maps to the short arm of chromosome 1 (1p22). A parametric LOD score of 4.65 (theta=0) and a nonparametric LOD score of 4.19 were found at D1S2779 in nine families selected for early age at onset. Additional typing yielded seven adjacent markers with LOD scores >3 in this subset, with the highest parametric LOD score, 4.95 (theta=0) (nonparametric LOD score 5.37), at D1S2776. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. A nonparametric ordered sequential analysis was used, based on the average age at diagnosis in each family. The highest LOD score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22.
Publisher: Public Library of Science (PLoS)
Date: 24-03-2015
Location: United States of America
Location: United States of America
Location: United States of America
No related grants have been discovered for Beth Saggers.