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European Journal of Human Genetics : EJHG|May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics servicesStephanie Best, Zoe Fehlberg, Christopher Richards, et al.Journal of Paediatrics and Child Health|July 5, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN)Natalie Taylor, Michelle Pirreca, Bruce Bennetts, et al.European Journal of Human Genetics : EJHG|February 12, 2025
Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementationLin Cheng, Nathasha Kugenthiran, Catherine Quinlan, et al.American Journal of Medical Genetics. Part A|August 5, 2010
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7Zornitza Stark, Monique M Ryan, Damien L Bruno, et al.Journal of Paediatrics and Child Health|March 29, 2022
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screeningThomas A Forbes, Jane Wallace, Smitha Kumble, et al.BMJ Open|November 29, 2023
Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in AustraliaDylan A Mordaunt, Zornitza Stark, Francisco Santos Gonzalez, et al.Genetics in Medicine Open|December 13, 2024
Evolution of virtual gene panels over time and implications for genomic data re-analysisAlan J Robertson, Khoa Tran, Chirag Patel, et al.European Journal of Medical Genetics|July 31, 2010
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic featuresZornitza Stark, Damien L Bruno, Hayley Mountford, et al.Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|December 26, 2024
A Standardized Measurement and Valuation Scale of Genomic Utility for Policy Decisions: The GUV ScaleIlias Goranitis, Daniel Sheen, Zoe Fehlberg, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2023
Microcosting diagnostic genomic sequencing: A systematic reviewFrancisco Santos Gonzalez, Dylan Mordaunt, Zornitza Stark, et al.Pageof 29