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NPJ Genomic Medicine|February 14, 2024
Eliciting parental preferences and values for the return of additional findings from genomic sequencingIlias Goranitis, Yan Meng, Melissa Martyn, et al.
European Journal of Medical Genetics|June 9, 2018
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathwayChloe Stutterd, George McGillivray, Zornitza Stark, et al.
Human Genomics|February 1, 2018
Meeting report of the 2017 KidGen Renal Genetics SymposiumKushani Jayasinghe, Cathy Quinlan, Zornitza Stark, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|January 22, 2013
Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditionsZornitza Stark, John Massie, Belinda McClaren, et al.
Human Molecular Genetics|May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial diseaseSumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2020
The leadership behaviors needed to implement clinical genomics at scale: a qualitative studyStephanie Best, Zornitza Stark, Helen Brown, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
Genes|October 27, 2022
Theory Designed Strategies to Support Implementation of Genomics in NephrologyArushi Kansal, Catherine Quinlan, Zornitza Stark, et al.
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