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Published in science

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

published in nature

An atlas of active enhancers across human cell types and tissues

published in nature

A promoter-level mammalian expression atlas

published in nature

An integrated encyclopedia of DNA elements in the human genome

published in nature

Landscape of transcription in human cells

May 2022

Remission of peanut allergy is associated with rewiring of allergen-driven T helper 2-related gene networks

The immunological changes underpinning acquisition of remission (also called sustained unresponsiveness) following food immunotherapy remain poorly defined. Limited access to effective therapies and biosamples from treatment responders has prevented progress. Probiotic peanut oral immunotherapy is highly effective at inducing remission, providing an opportunity to investigate immune changes.

Published research Human Immunology Systems Immunology Food Allergy Computational Biology Oncogenic Signalling Laboratory Allergy
April 2022

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Published research Child Disability Infectious Diseases Epidemiology Computational Biology Subsite: Wesfarmers Centre of Vaccines and Infectious Diseases Child disability
March 2022

Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study

Accurate 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.

Published research Child Disability Computational Biology Child disability
September 2021

Temporally restricted activation of IFNβ signaling determines response to immune checkpoint therapy

Little is known about the dynamic biological events that underpin therapeutic efficacy in immune checkpoint blockade (ICB) in cancer, due to the inability to frequently sample tumors in patients. Here, we mapped the transcriptional profiles of 144 responding and non-responding tumors within two mouse models at four time points during ICB. We found that responding tumors displayed on/fast-off kinetics of type-I-interferon (IFN) signaling.

Children's Cancers Published research Computational Biology Sarcoma Translational Research Translational Genetics