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        A flexible computational pipeline for research analyses of unsolved clinical exome cases

        Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

        Research

        Ultraviolet radiation suppresses obesity and symptoms of metabolic syndrome independently of vitamin D

        UVR or sunlight exposure may be an effective means of suppressing the development of obesity and MetS, through mechanisms that are independent of vitamin D ...

        Research

        Re-evaluation of link between interpregnancy interval and adverse birth outcomes: Retrospective cohort study matching two intervals per mother

        This study questions the causal effect of short interpregnancy intervals on adverse birth outcomes and points to the possibility of unmeasured or... ...

        Research

        Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in Brazil

        This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

        Research

        Western Australian emergency department presentations related to child maltreatment and intentional injury

        To determine the proportion of child maltreatment-related emergency department presentations in WA and describe the types of injuries associated with them. ...

        Research

        The interaction between respiratory viruses and pathogenic bacteria

        Data on asymptomatic identification rates of respiratory viruses are limited, particularly in Indigenous populations, who suffer a high burden of OM. ...

        Research

        Diverging trends for lower respiratory infections in non-Aboriginal and Aboriginal children

        To investigate temporal trends in admission rates for acute lower respiratory infections (ALRI) in a total population birth cohort of non-Aboriginal and... ...

        Research

        Genetics of Otitis Media

        Sarra Jenefer Jamieson Blackwell SE JM BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Senior Research Fellow Head, Genetics ...

        Research

        Bilingualism, Parental English Skills and Child and Adolescent Development

        Francis Ha Steve Mitrou Nguyen Zubrick FG HN SR BEc PhD FASSA, FAAMHS, MSc AM PhD Program Head, Population Health, and Team Head, Human Development ...

        Research

        Bacterial Reservoirs in the Middle Ear of Otitis-prone Children Are Associated With Repeat Ventilation Tube Insertion

        Presence of bacterial otopathogen in the middle ear during ventilation tube insertion was a predictor of children at-risk of repeat ventilation tube insertion ...

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