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        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

        Climate clever clovers: New paradigm to reduce the environmental footprint of ruminants by breeding low methanogenic forages utilizing haplotype variation

        We demonstrate the feasibility of a plant breeding approach without compromising animal productivity to mitigate enteric methane emissions, which is one of the most significant challenges to global livestock production. ...

        Research

        Initiating an undiagnosed diseases program in the Western Australian public health system

        We describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program - WA ...

        Research

        Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children

        Food allergy (FA) affects 2%-10% of US children and is a growing clinical and public health problem. ...

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        Schizophrenia Spectrum Disorders and Autism Spectrum Disorder

        We examine the level of comorbidity found between Autism spectrum disorder and Schizophrenia spectrum disorders at a clinical and trait level ...

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        Variants associated with HHIP expression have sexdifferential effects on lung function

        Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sexdifferential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. ...

        Research

        Early childhood development of boys with genital anomalies

        We found no increased risk of poor development among boys with hypospadias or undescended testis ...

        Research

        Candidate gene testing in clinical cohort studies with multiplexed genotyping and mass spectrometry

        We describe a cost-effective tag single nucleotide polymorphism approach using a multiplexed genotyping assay with mass spectrometry ...

        Research

        Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

        Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing ...

        Research

        Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

        We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. ...

        Research

        The complement system in systemic lupus erythematosus: An update

        Jonatan Leffler JL PhD Senior Research Officer jonatan.leffler@telethonkids.org.au Senior Research Officer Dr. Leffler got his PhD from Lund University in Sweden studying the autoimmune disease SLE. He has since moved to Perth and the Telethon Kids ...

        Research

        Stability and change in self-reported risk and resilience factors associated with mental health of siblings of individuals with and without neurodevelopmental conditions over 15 months

        Siblings of individuals with neurodevelopmental conditions (NDCs) are a minority population at higher genetic and environmental risk of poorer neurocognitive and psychosocial outcomes compared to siblings of individuals without NDCs. ...

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