Adolescents attending a hospital-based CPU report high rates of health-risk behaviours ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• June 2016

Identifying 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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• May 2019

We provided a broad atlas of miRNA expression and promoters in primary mammalian cells, establishing a foundation for detailed analysis of miRNA. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

This study provides an initial insight into the TFs of cerebellar granule cells that might be important for development ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• June 2018

In this study, invasive meningococcal disease isolates from the western seaboard of Australia, WA, were compared to those of VIC from 2008 to 2012. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• October 2017

In-utero hyperglycemia exposure influences later cardiometabolic risk, although few studies include women with pre-existing type 2 diabetes (T2D) or assess maternal body mass index (BMI) as a potential confounder. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• August 2023

Lipidomic biomarkers associated with obesity and IR using plasma samples from a population-based cohort of young adults ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• March 2016

Orm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• October 2017

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

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

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

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• November 2015

Research on psychological flow is well established, although criticisms remain regarding conceptual and measurement issues associated with the construct. This scoping review maps flow-related research across scientific disciplines, examining the conceptualization, measurement instruments, and outcomes of flow between 2012 and 2019. Across 236 sources that met the review criteria, 108 different flow-related constructs were measured by 141 instruments, and 84 possible antecedents were identified. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• August 2021