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        Genome-wide analysis of genetic risk factors for rheumatic heart disease in Australian Aboriginal populations from the Northern Territory

        Jenefer Timo Sarra Genevieve Jonathan Blackwell Lassmann Jamieson Syn Carapetis AM JM T SE GS JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD BSc (Hons), PhD AM MBBS FRACP FAFPHM PhD FAHMS Head, ...

        Research

        An in silico pipeline to filter the Toxoplasma gondii proteome for proteins that could traffic to the host cell nucleus and influence host cell epigenetic regulation

        To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins ...

        Research

        Mapping the incidence rate of typhoid fever in sub-Saharan Africa

        With more than 1.2 million illnesses and 29,000 deaths in sub-Saharan Africa in 2017, typhoid fever continues to be a major public health problem. Effective control of the disease would benefit from an understanding of the subnational geospatial distribution of the disease incidence. ...

        Research

        Growth patterns in individuals with CDKL5 deficiency disorder

        Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.  ...

        Research

        Parental perspectives of the everyday experiences of uncertainty among young children on the autism spectrum

        Anxiety commonly co-occurs in autism. Exploring and understanding potential underpinning mechanisms contributing to and maintaining anxiety in the early years is important in managing anxiety. Intolerance of uncertainty (IU), a tendency to find uncertainty difficult, is a transdiagnostic mechanism contributing to anxiety, but little is known about how IU may be experienced in young children on the autism spectrum. This study investigated parental perspectives of children's experiences of uncertainty. ...

        Research

        Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.

        disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer. ...

        Research

        Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in Sudan

        Jenefer Sarra Blackwell Jamieson JM SE BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD Head, Genetics & Health Senior Research Fellow Jenefer.Blackwell@telethonkids.org.au sarra.jamieson@telethonkids.org.au Head, Genetics & ...

        Research

        Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of Brazil

        This paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles... ...

        Research

        Health professionals addressing alcohol use with pregnant women in Western Australia

        Health professionals have an important role to play in preventing prenatal alcohol exposure ...

        Research

        Celebrating the lived experience of socio-economic disadvantage in the public health workforce

        Joelie Mandzufas JM BCom BHSc GCHELT Project Coordinator Joelie.mandzufas@telethonkids.org.au PhD Student Joelie Mandzufas is a PhD student with the University of Western Australia, co-located with the Food and Nutrition Research team at Telethon ...

        Research

        Intellectual disability and autism prevalence in Western Australia: impact of the NDIS

        Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. ...

        Research

        Association between ABO, Rh blood groups, lip and dermatoglyphic patterns, and nonsyndromic oral clefts: A case-control study

        The objective of the study is to determine the association between nonsyndromic oral clefts (OC) in children and ABO, Rh blood groups, lip, and dermatoglyphic patterns of their unaffected parents. ...

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