Jenefer Timo Blackwell Lassmann JM T BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD Head, Genetics & Health Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology Jenefer.Blackwell@ ...

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

Amy Juliet Vincent Keerthi Professor Catherine Finlay-Jones Brook Mancini Kottampally Elliott AFJ JB VOM KK CE BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BBiomedSci PhD (Clinical Psychology) Bsc (Hons), GradDipPsych(Adv) PhD, BSc ...

• 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

Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

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

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation. ...

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

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 Head, Genetics & Health Feilman Fellow; Program Head, Precision Health and Team Lead, Computational ...

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

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

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

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

Sébastien Rishi Sury Laurence Timo Malinge Kotecha Cheung Lassmann SM RS LC T PhD MB ChB (Hons) MRCPCH FRACP PhD BPharm (Hons) MBA PhD BSc (Hons) MSc PhD Laboratory Head, Translational Genomics in Leukaemia, Ursula Kees Fellow (CCRF), Cancer ...

• 1. Telethon Kids Institute
• Projects