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American Journal of Medical Genetics. Part A|January 11, 2016
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndromeBrian T Wilson, Anneline Lochan, Zornitza Stark, et al.Ophthalmic Genetics|April 10, 2026
Novel heterozygous UCHL1 variant causing severe optic atrophy and vision lossNatalie S Lee, Clare L Fraser, Zornitza Stark, et al.Neuro-Ophthalmology (Aeolus Press)|June 30, 2026
UCHL1-Related Dominant Optic Atrophy: Report of Two New FamiliesNatalie S Lee, John R Grigg, Zornitza Stark, et al.European Journal of Human Genetics : EJHG|April 3, 2021
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experimentIlias Goranitis, Stephanie Best, John Christodoulou, et al.Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|October 17, 2025
Genomic Testing in Australia: A Budget Impact Analysis Using Diffusion Modeling From a Healthcare System PerspectiveDylan A Mordaunt, Zornitza Stark, Adam G Elshaug, et al.Pediatrics|November 28, 2022
Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care ContextFiona Lynch, Trisha Prentice, Lynn Gillam, et al.Human Genomics|August 16, 2023
Determining the utility of diagnostic genomics: a conceptual frameworkAndrew Mallett, Zornitza Stark, Zoe Fehlberg, et al.Cold Spring Harbor Molecular Case Studies|February 15, 2022
Ethylmalonic encephalopathy masquerading as meningococcemiaAri Horton, Kai Mun Hong, Dinusha Pandithan, et al.Journal of Paediatrics and Child Health|July 22, 2008
Discussing withdrawing and withholding of life-sustaining medical treatment in a tertiary paediatric hospital: a survey of clinician attitudes and practicesTom Forbes, Emma Goeman, Zornitza Stark, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2020
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experimentIlias Goranitis, Stephanie Best, Zornitza Stark, et al.Pageof 29