Ilias Goranitis

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  |  The 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..

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung, Natalie B Tan, Tiong Y Tan, Zornitza Stark, Natasha Brown, Matthew F Hunter, Martin Delatycki, Chloe Stutterd, Ravi Savarirayan, George Mcgillivray, Rachel Stapleton, Smitha Kumble, Lilian Downie, Matthew Regan, Sebastian Lunke, Belinda Chong, Dean Phelan, Gemma R Brett, Anna Jarmolowicz, Yael Prawer, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions..

Progesterone to prevent miscarriage in women with early pregnancy bleeding: the PRISM RCT.

Arri Coomarasamy, Hoda M Harb, Adam J Devall, Versha Cheed, Tracy E Roberts, Ilias Goranitis, Chidubem B Ogwulu, Helen M Williams, Ioannis D Gallos, Abey Eapen, Jane P Daniels, Amna Ahmed, Ruth Bender-Atik, Kalsang Bhatia, Cecilia Bottomley, Jane Brewin, Meenakshi Choudhary, Fiona Crosfill, Shilpa Deb, W Colin Duncan, et al.

Journal article  |  2020  |  Health Technology Assessment

BACKGROUND: Progesterone is essential for a healthy pregnancy. Several small trials have suggested that progesterone therapy may r..