Poster Presentations

Poster Session - 6-7pm, Fri 22 Nov 

Posters are to be brought to the conference on Friday and to be set up at the allocated position based on the number you have been assigned. Posters can be left with conference staff during session times for safe keeping.

Poster prizes are on offers for the best poster presentations.

Guidelines for your Poster Display:

Poster Size: No larger than A0 poster size

Display Orientation: (841mm W x 1189mm H)

Poster Mounting: Velcro compatible boards (Velcro dots provided)


Dimuthu Alankarage, Victor Chang Cardiac Research Institute

Functional assessment of a variant of uncertain significance identified in transcription factor PBX1 in a patient with congenital heart disease


Hamid Alinejad-Rokny, Harry Perkins Institute of Medial Research

Mapping promoter-enhancer interactions of neuromuscular disease genes using a novel machine learning tool


Adam Bournazos, Kids Neuroscience Centre / University of Sydney

Implementation of rapid splicing studies using blood or skin informs diagnosis and management in clinical genomics


Samantha Bryen, Kids Neuroscience Centre, Kids Research, The Sydney Children's Hospital Network

Recurrent TTN metatranscript-only splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.


Daffodil Canson, QIMR Berghofer Medical Research Institute

Bioinformatic analysis of BRCA1/2 germline deep intronic variants for functional assay prioritisation


Alison Compton, Murdoch Children's Research Institute

Functional Genomics beyond the Clinical Exome: validating the role of CNVs, SVs, deep-intronic and ‘silent’ mutations in Mitochondrial disease.


Fran Evesson, Kids Neuroscience Centre, The Children's Hospital at Westmead, CMRI & University of Sydney

Pathogenic abnormal splicing due to intronic space constraint for spliceosome assembly


Ann Frazier, Murdoch Children's Research Institute

Untangling the mitochondrial ATAD3 locus: pathogenic rearrangements and clinical heterogeneity


Bianca Grosz, ANZAC Research Institute- University of Sydney

IRES Dysfunction is not the Pathogenic Mechanism of the GJB1 5’ UTR c.-103C>T mutation


Mira Holliday, Centenary Institute, The University of Sydney, Sydney

Transcriptome sequencing of patients with hypertrophic cardiomyopathy reveals deep intronic variants amenable to antisense oligonucleotide therapy


Eddie Ip, Victor Chang Cardiac Research Institute

dv-trio: a DeepVariant-based trio variant calling pipeline


Eddie Ip, Victor Chang Cardiac Research Institute

Comparison of algorithms for mtDNA variant discovery from whole-genome sequencing data


To Ha Loi, Eye Genetics Research Unit, Children’s Medical Research Institute, The Children’s Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney.

Disease modelling in the genetic retinal dystrophies using genome editing in human pluripotent stem cells.


Hiu Chuen Lok, University of Sydney

Novel rare variants in CYP27A1 gene are associated with increased protein instability and variable neurodegenerative diseases


Ella Martin, Victor Chang Cardiac Research Institute

Heterozygous deleterious variants in WBP11 cause complex congenital defects in humans and mice


Vaishnavi Nathan, QIMR Berghofer Medical Research Institute

Prioritisation pipeline for functional assessment of candidate melanoma susceptibility genes


Elizabeth Palmer, UNSW, Gold service, Sydney Children's Hospital

In this together: partnerships between clinicians, genomicists and functional scientists find diagnoses for children with ‘unsolvable’ severe neurocognitive disorders.


Ralph Patrick, Victor Chang Cardiac Research Institute

Decoding the identify and flux of cardiac cells in injury and homeostasis at single-cell resolution


Mirana Ramialison, Australian Regenerative Medicine Institute

Decrypting the contribution of non-coding DNA elements to cardiac enhanceropathies


Gina Ravenscroft, Harry Perkins Institute and UWA

Genotype-phenotype expansions in fetal akinesia and arthrogryposis


Lisa Riley, Kids Research, The Children's Hospital at Westmead

Functional analysis of LARS2 variants reveals an expanding phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy


Lisa Riley, Kids Research, The Children's Hospital at Westmead

Rare diseases functional genomics: evaluating pathogenicity of VUS


Anushi Shah, Victor Chang Cardiac Research Institute

Investigation of de novo mutations in human genomes using whole genome sequencing datasets.


Raman Sharma, The University of Adelaide

Subtle variation in mRNA export factor THOC2 affects TREX complex protein stability and is the cause of variable neurodevelopmental disturbance


Justin Szot, Victor Chang Cardiac Research Institute

Biallelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of Congenital NAD Deficiency Disorders


Ingrid Tarr, Victor Chang Cardiac Research Institute

The use of duplicate samples to improve variant quality control in whole genome sequencing studies


Daniel Thomson, Centre for Cancer Biology

Using genomics/transcriptomics approaches for characterising structural variant formation in chronic myeloid leukaemia


Nicole Van Bergen, Murdoch Children’s Research Institute

Mutations in the exocyst component EXOC2 (Sec5) cause severe defects in human brain development


Leigh Waddell, Kids Neuroscience Centre, The Children's Hospital at Westmead and University of Sydney

Diagnostic yield: WES, WGS and RNA testing among 214 neuromuscular families: known versus novel disease genes, coding versus non-coding variants.


Qing Wang, The Computational Genomics Laboratory, The Victor Chang Cardiac Research Institute

Comprehensive evaluation of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data


Kumiko Yanagi, National Center for Child Health and Development, Japan

A dominant negative type of variant in MAP3K7 causes cardiospondylocarpofacial syndrome


Eddy Yang, The Florey Institute of Neuroscience of Mental Health

Investigating the molecular and functional impact of a novel DLG2/PSD-93 mutation in neurodevelopmental disorders


Akira Gokoolparsadh, University of New South Wales, Sydney

Characterising the Landscape of Circular RNA Expression in the Human Brain

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