학술논문

1 . Academic Journal

Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia

저자: by Peters, Riccarda; Best, Stephanie; Lynch, Fiona; Vears, Danya F.; Downie, Lilian, et al.
소스: In The American Journal of Human Genetics 3 July 2025 112(7):1515-1527

7 . Academic Journal

A Standardized Measurement and Valuation Scale of Genomic Utility for Policy Decisions: The GUV Scale

저자: by Goranitis, Ilias; Sheen, Daniel; Fehlberg, Zoe; Mallett, Andrew J.; Best, Stephanie, et al.
소스: In Value in Health February 2025 28(2):184-190

7 . Academic Journal

Distributional Cost-Effectiveness Analysis in Genomic Medicine: Considerations for Addressing Health Equity

저자: by Smith, Hadley Stevens; Buchanan, James; Goranitis, Ilias; IJzerman, Maarten J.; Lavelle, Tara A., et al.
소스: In Value in Health April 2025

7 . Academic Journal

Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies

저자: by Kelada, Lauren; Best, Stephanie; Pierce, Kristine; Allen, Meagan; Cobb, Joanna, et al.
소스: In European Journal of Paediatric Neurology January 2025 54:147-158

7 . Academic Journal

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses

저자: by Rius, Rocio; Compton, Alison G.; Baker, Naomi L.; Balasubramaniam, Shanti; Best, Stephanie, et al.
소스: In Genetics in Medicine January 2025 27(1)

7 . Academic Journal

Determining priority indicators of utility for genomic testing in rare disease: A Delphi study

저자: by Fehlberg, Zoe; Goranitis, Ilias; Mallett, Andrew J.; Stark, Zornitza; Best, Stephanie.
소스: In Genetics in Medicine June 2024 26(6)

7 . Academic Journal

The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study

저자: by Mordaunt, Dylan A.; Gonzalez, Francisco Santos; Lunke, Sebastian; Eggers, Stefanie; Sadedin, Simon, et al.
소스: In Genetics in Medicine April 2024 26(4)

7 . Academic Journal

Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation

저자: by Wu, You; Jayasinghe, Kushani; Stark, Zornitza; Quinlan, Catherine; Patel, Chirag, et al.
소스: In Genetics in Medicine November 2023 25(11)

7 . Academic Journal

The Feasibility and Validity of Preference-Based Quality of Life Measures With Informal Carers: A Think-Aloud Study

저자: by McLoughlin, Carol; Goranitis, Ilias; Al-Janabi, Hareth.
소스: In Value in Health November 2023 26(11):1655-1664

5 . Academic Journal

“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy

저자: by Robertson, Eden G.; Roberts, Natalie J.; Le Marne, Fleur; Beavis, Erin; Macintosh, Rebecca, et al.
소스: In European Journal of Paediatric Neurology November 2023 47:94-104

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