This study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones. ...

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

These results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data ...

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

Melissa Gail Jenny Andrew Licari Alvares Downs Whitehouse Watch and listen to Andrew ML GA JA AJ PhD PhD BApplSci (physio) MSc PhD PhD Senior Research Fellow Senior Research Fellow Program Head, Development and Disability Angela Wright Bennett ...

• 1. Telethon Kids Institute
• Projects

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

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

Leishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• July 2012

Visceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified... ...

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

MMP1 is regulated by factors other than FLI1, and that the influence of IL-6 on MMP1 was independent of its effect on FLI1 in Leishmania braziliensis ...

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

Delays within the motor domain are often overlooked as an early surveillance marker for autism. The present study evaluated motor difficulties and its potential as an early predictive marker for later autism likelihood in a cohort of infants showing early behavioral signs of autism aged 9-14 months. The motor domain was evaluated using the motor subscales of the Mullen Scales of Early Learning at baseline, and at a 6-month follow-up. ...

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

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

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

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

Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected ...

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

Technology-based interventions may provide a relatively low-cost addition to existing therapist-delivered interventions for children with ASD ...

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