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Effect of Posture on Lung Ventilation distribution and Associations with Structure in Children with Cystic Fibrosis Effect of Posture on Lung
Interleukin-1 is associated with inflammation and structural lung disease in young children with cystic fibrosis Early diagnosis and treatment in
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Research
An expanded phenotype centric benchmark of variant prioritisation toolsIdentifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.
Research
Primum non nocere (“first do no harm”) with oxygen therapyBritta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant
Research
In silico evolution of nucleic acid-binding proteins from a nonfunctional scaffoldDirected evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico.
Research
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyWe aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.