Ilias Goranitis

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..

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  |  2020  |  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 ..

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..

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..

Validity and Responsiveness of Preference-Based Quality-of-Life Measures in Informal Carers: A Comparison of 5 Measures Across 4 Conditions.

Carol McLoughlin, Ilias Goranitis, Hareth Al-Janabi

Journal article  |  2020  |  Value in Health

OBJECTIVES: Carer quality-of-life (QoL) effects are recommended for inclusion in economic evaluations, but little is known about t..

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 l..

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

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

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: To estimate the personal utility and uptake of genomic sequencing (GS) across pediatric and adult-onset genetic condition..

Parental health spillover effects of paediatric rare genetic conditions

You Wu, Hareth Al-Janabi, Andrew Mallett, Catherine Quinlan, Ingrid E Scheffer, Katherine B Howell, John Christodoulou, Richard J Leventer, Paul J Lockhart, Zornitza Stark, Tiffany Boughtwood, Ilias Goranitis

Journal article  |  2020  |  Quality of Life Research