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        Professor Ursula Kees

        Honorary Emeritus Fellow ...

        Research

        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 ...

        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. ...

        Research

        Unlocking immune-mediated disease mechanisms with transcriptomics

        The transcriptome represents the entire set of RNA transcripts expressed in a cell, reflecting both the underlying genetic and epigenetic landscape and environmental influences, providing a comprehensive view of functional cellular states at any given time. Recent technological advances now enable the study of the transcriptome at the resolution of individual cells, providing exciting opportunities to characterise cellular and molecular events that underpin immune-medicated diseases. ...

        Predictors of seizure onset in Rett syndrome

        Article title Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H. Predictors of seizure onset ...

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