Z
Zornitza Stark
Researcher at University of Melbourne
Publications - 188
Citations - 5733
Zornitza Stark is an academic researcher from University of Melbourne. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 30, co-authored 147 publications receiving 3825 citations. Previous affiliations of Zornitza Stark include Royal Children's Hospital & University of South Australia.
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Journal ArticleDOI
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M. Clark,Zornitza Stark,Lauge Farnaes,Lauge Farnaes,Tiong Yang Tan,Susan M. White,David Dimmock,Stephen F. Kingsmore +7 more
TL;DR: In children with suspected genetic diseases, the diagnostic and clinical utility of WGS/WES were greater than CMA, and WGS should be considered a first-line genomic test for children with suspect genetic diseases.
Journal ArticleDOI
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Zornitza Stark,Tiong Yang Tan,Belinda Chong,Gemma R Brett,Patrick Yap,Maie Walsh,Alison Yeung,Heidi Peters,Heidi Peters,Dylan A. Mordaunt,Dylan A. Mordaunt,Shannon Cowie,David J. Amor,Ravi Savarirayan,George McGillivray,Lilian Downie,Paul G Ekert,Christiane Theda,Christiane Theda,Paul A. James,Joy Yaplito-Lee,Monique M. Ryan,Monique M. Ryan,Richard J. Leventer,Richard J. Leventer,Emma Creed,Ivan Macciocca,Katrina M. Bell,Alicia Oshlack,Simon Sadedin,Peter Georgeson,Charlotte Anderson,Natalie P. Thorne,Clara Gaff,Susan M. White +34 more
TL;DR: Singleton WES outperformed standard care in terms of diagnosis rate and the benefits of a diagnosis, namely, impact on management of the child and clarification of reproductive risks for the extended family in a timely manner.
Journal ArticleDOI
Osteopetrosis
Zornitza Stark,Ravi Savarirayan +1 more
TL;DR: Osteopetrosis is a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs as mentioned in this paper, which can be inherited as autosomal recessive, dominant or X-linked traits.
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Integrating Genomics into Healthcare: A Global Responsibility
Zornitza Stark,Lena Dolman,Teri A. Manolio,Brad Ozenberger,Sue Hill,Mark J. Caulfied,Yves Levy,David Glazer,Julia Wilson,Mark Lawler,Tiffany Boughtwood,Jeffrey Braithwaite,Peter Goodhand,Ewan Birney,Kathryn N. North +14 more
TL;DR: This work reviews the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provides a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.
Journal ArticleDOI
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan,Oliver James Dillon,Zornitza Stark,Deborah Schofield,Deborah Schofield,Khurshid Alam,Rupendra N. Shrestha,Belinda Chong,Dean Phelan,Gemma R Brett,Emma Creed,Anna Jarmolowicz,Patrick Yap,Maie Walsh,Lilian Downie,David J. Amor,Ravi Savarirayan,George McGillivray,Alison Yeung,Heidi Peters,Heidi Peters,Susan J. Robertson,Aaron J. Robinson,Ivan Macciocca,Simon Sadedin,Katrina M. Bell,Alicia Oshlack,Peter Georgeson,Natalie P. Thorne,Clara Gaff,Clara Gaff,Susan M. White +31 more
TL;DR: Singleton WES in children with suspected monogenic conditions has high diagnostic yield, and cost-effectiveness is maximized by early application in the diagnostic pathway, compared with the standard diagnostic pathway.