Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.  ...

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

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis. ...

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

The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially... ...

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

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions. ...

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

This protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• May 2020

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

We investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets ...

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

The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development ...

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

We obtain a set of 57 candidate immediate early genes possessing promoters that consistently drive a rapid but transient increase in expression over time ...

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