Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing ...

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

We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

Jonatan Leffler JL PhD Senior Research Officer jonatan.leffler@telethonkids.org.au Senior Research Officer Dr. Leffler got his PhD from Lund University in Sweden studying the autoimmune disease SLE. He has since moved to Perth and the Telethon Kids ...

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

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

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

Siblings of individuals with neurodevelopmental conditions (NDCs) are a minority population at higher genetic and environmental risk of poorer neurocognitive and psychosocial outcomes compared to siblings of individuals without NDCs. ...

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

The transcriptome represents the entire set of RNA transcripts expressed in a cell, reflecting both the underlying genetic and epigenetic landscape and environmental influences, providing a comprehensive view of functional cellular states at any given time. Recent technological advances now enable the study of the transcriptome at the resolution of individual cells, providing exciting opportunities to characterise cellular and molecular events that underpin immune-medicated diseases. ...

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

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sexdifferential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. ...

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

We found no increased risk of poor development among boys with hypospadias or undescended testis ...

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

Eczema often precedes the development of asthma in a disease course called the 'atopic march'. ...

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

The transforming growth factor-beta pathway is important in the immunopathogenesis of Visceral leishmaniasis ...

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

These findings suggest that tumor cells employ multiple epigenetic and genetic mechanisms to evade immune control ...

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

The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children ...

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