Amy Juliet Vincent Keerthi Professor Catherine Finlay-Jones Brook Mancini Kottampally Elliott AFJ JB VOM KK CE BPsych(Hons), MPsych(Clinical), ...

• 1. Telethon Kids Institute
• Projects

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

The bone marrow microenvironment plays a key role in leukemia progression, but its molecular complexity in pre-B cell acute lymphoblastic leukemia (B-ALL), the most common cancer in children, remains poorly understood. To gain further insight, we used single-cell RNA sequencing to characterize the kinetics of the murine BMM during B-ALL progression. ...

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

Apgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival. ...

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

Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

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

Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants ...

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

Jenefer Timo Sarra Blackwell Lassmann Jamieson JM T SE BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

This data set provides a useful reference point for genomic studies on Aboriginal Australians ...

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

The Genetics and Health Team's priorities lie in understanding the biological mechanisms behind development of a range of rare and complex diseases, to help improve diagnosis, treatment and prevention both in Australian populations and internationally. ...

• 1. Telethon Kids Institute
• Our research
• Past teams