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

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

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

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

Genevieve Sarra Jenefer Syn Jamieson Blackwell GS SE JM BSc (Hons), PhD BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Research Officer Senior Research Fellow Head, Genetics & Health (08) 6319 1549 Genevieve.syn@ ...

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

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

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia ...

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

Jenefer Timo Sarra Genevieve Jonathan Blackwell Lassmann Jamieson Syn Carapetis AM JM T SE GS JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD BSc (Hons), PhD AM MBBS FRACP FAFPHM PhD FAHMS Head, ...

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

Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD MBBS MSc PhD FAFPHM DLSHTM FPHA BSc (Hons) MSc PhD MBChB MPH BSc (Hons), ...

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