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Recommendations from a consensus development workshop on the diagnosis of fetal alcohol spectrum disorders in Australia.

Fetal alcohol spectrum disorders (FASD) are underdiagnosed in Australia, and health professionals have endorsed the need for national guidelines for diagnosis.

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.

Twenty years of integrated disease surveillance and response in Sub-Saharan Africa: challenges and opportunities for effective management of infectious disease epidemics

This systematic review aimed to analyse the performance of the Integrated Disease Surveillance and Response strategy in Sub-Saharan Africa and how its implementation has embraced advancement in information technology, big data analytics techniques and wealth of data sources.

Prior administration of chocolate improves the palatability of bitter drugs: The Choc-with-Med study

The paediatric population has a low adherence and acceptance rate of unpalatable medicines. This study aimed to determine whether eating chocolate immediately prior to drug administration would help to mask the bitter taste of a drug. The difference in taste masking efficacy between white, milk and dark chocolate was a secondary measure outcome.

An atlas of human long non-coding RNAs with accurate 5′ ends

Combining these findings with conservation data, we identify 19,175 potentially functional lncRNAs in the human genome.

CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSs

CAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types

Functional annotation of the vlinc class of non-coding RNAs using systems biology approach

We show that vlincRNAs genes likely function in cis to activate nearby genes

Transcriptome analysis of recurrently deregulated genes across multiple cancers identifies new pan-cancer biomarkers

Genomewide expression profiling approach identified a comprehensive set of candidate biomarkers with pan-cancer potential

DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C

The role of HOXD10 in the regulation of VEGFR-3 signaling in lymphatic endothelial cells, and in the control of lymphangiogenesis and permeability

DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic Endothelium

VEGFR-3 signaling plays a central role in lymphatic biology, both in the development of the lymphatic network during embryogenesis as well as in...