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Refining nosology by modelling variation among facial phenotypes: The RASopathiesIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
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Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discoveryThis review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response
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The role and therapeutic implications of T cells in cancer of the lungThis review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies
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Transcriptional dynamics during human adipogenesis and its link to adipose morphology and distributionOur results suggest a complex but highly coordinated regulation of adipogenesis
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Data Descriptor: Monitoring transcription initiation activities in rat and dogThe promoter landscape of several non-human model organisms is far from complete
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Telomerase reverse transcriptase regulates microRNAs.This study reports that telomerase reverse transcriptase extensively affects the expression levels of mature microRNAs.
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Technical Advance: Transcription factor, promoter, and enhancer utilization in human myeloid cellsThe generation of myeloid cells from their progenitors is regulated at the level of transcription by combinatorial control of key transcription factors...
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Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based studyAdvances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
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Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based studyAccurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
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Searching for a technology-driven acute rheumatic fever test: the START study protocolThe absence of a diagnostic test for acute rheumatic fever (ARF) is a major impediment in managing this serious childhood condition. ARF is an autoimmune condition triggered by infection with group A Streptococcus.