Ilias Goranitis

Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.

Kushani Jayasinghe, You Wu, Zornitza Stark, Peter G Kerr, Andrew J Mallett, Clara Gaff, Melissa Martyn, Ilias Goranitis, Catherine Quinlan

Journal article  |  2021  |  Kidney Int Rep

Background: Despite the emergence of diagnostic and clinical utility evidence in nephrology, publicly funded access to genomic tes..

The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions

Yan Meng, Philip M Clarke, Ilias Goranitis

Journal article  |  2021  |  Pharmacoeconomics

OBJECTIVES: The aim of this study was to elicit the willingness-to-pay (WTP) for genomic testing, using contingent valuation, amon..

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation

You Wu, Shanti Balasubramaniam, Rocio Rius, David R Thorburn, John Christodoulou, Ilias Goranitis

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The diagnostic and clinical benefits of genomic sequencing are being increasingly demonstrated across multiple rare genetic condit..

New evidence on the impact of the Great Recession on health-compromising behaviours

James Hall, Ilias Goranitis, Jesse Kigozi, Alessandra Guariglia

Journal article  |  2021  |  ECONOMICS & HUMAN BIOLOGY

Using data from the English Longitudinal Study of Ageing over the period 2004-2017, this paper explores the effects of the Great R..

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment

Ilias Goranitis, Stephanie Best, John Christodoulou, Tiffany Boughtwood, Zornitza Stark

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Healthcare systems are increasingly considering widespread implementation of rapid genomic testing of critically ill children, but..

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean G Phelan, Melanie O'Keefe, Kirby Siemering, Kirsty West, Adrienne Sexton, Anna Jarmolowicz, Jessica A Taylor, Joshua Schultz, et al.

Journal article  |  2021  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for ..

Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis

Lilian Downie, David J Amor, Jane Halliday, Sharon Lewis, Melissa Martyn, Ilias Goranitis

Journal article  |  2020  |  LARYNGOSCOPE

OBJECTIVES/HYPOTHESIS: To assess the relative cost-effectiveness of exome sequencing for isolated congenital deafness compared wit..

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygousASNSsplicing variant in a critically ill neonate

Lauren S Akesson, Adam Bournazos, Andrew Fennell, Emma I Krzesinski, Kenneth Tan, Amanda Springer, Katherine Rose, Ilias Goranitis, David Francis, Crystle Lee, Fathimath Faiz, Mark R Davis, John Christodoulou, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Sandra T Cooper

Journal article  |  2020  |  HUMAN MUTATION

Rapid genomic diagnosis programs are transforming rare disease diagnosis in acute pediatrics. A ventilated newborn with cerebellar..

Mapping the Minnesota Living with Heart Failure Questionnaire (MLHFQ) onto the Assessment of Quality of Life 8D (AQoL-8D) utility scores

Max Catchpool, Jay Ramchand, David L Hare, Melissa Martyn, Ilias Goranitis

Journal article  |  2020  |  QUALITY OF LIFE RESEARCH

Purpose The Minnesota Living with Heart Failure Questionnaire (MLHFQ) is a widely used condition-specific measure of quality of li..

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

Ilias Goranitis, Stephanie Best, Zornitza Stark, Tiffany Boughtwood, John Christodoulou

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: To estimate the value of genomic sequencing for complex pediatric neurological disorders of suspected genetic origin. MET..