Sökresultat - Zornitza Stark

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  1. 1
    Osteopetrosis

    Osteopetrosis av Zornitza Stark, Ravi Savarirayan

    Publicerad 2009
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  2. 2
    Rapid genomic testing for critically ill children: time to become standard of care?

    Rapid genomic testing for critically ill children: time to become standard of care? av Zornitza Stark, Sian Ellard

    Publicerad 2021
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  3. 3
    Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study

    Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study av Zoe Fehlberg, Zornitza Stark, Stephanie Best

    Publicerad 2024
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  4. 4
    Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia

    Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia av Dylan Mordaunt, Kim Dalziel, Ilias Goranitis, Zornitza Stark

    Publicerad 2023
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  5. 5
    It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine

    It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine av Alan J. Robertson, Andrew Mallett, Zornitza Stark, Clair Sullivan

    Publicerad 2024
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  6. 6
    Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

    Rapid Challenges: Ethics and Genomic Neonatal Intensive Care av Christopher Gyngell, Ainsley J. Newson, Dominic Wilkinson, Zornitza Stark, Julian Savulescu

    Publicerad 2019
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  7. 7
    Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

    Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes av Deborah Schofield, Luke Rynehart, Rupendra Shresthra, Susan M. White, Zornitza Stark

    Publicerad 2019
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  8. 8
    The application of long-read sequencing in clinical settings

    The application of long-read sequencing in clinical settings av Josephine B Oehler, Helen Wright, Zornitza Stark, Andrew Mallett, Ulf Schmitz

    Publicerad 2023
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  9. 9
    Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementation

    Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementation av Lin Cheng, Nathasha Kugenthiran, Catherine Quinlan, Zornitza Stark, Kushani Jayasinghe, Stephanie Best

    Publicerad 2025
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  10. 10
    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome

    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome av T. Michael Yates, Pradeep Vasudevan, Kate Chandler, Deirdre E. Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian

    Publicerad 2017
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  11. 11
    Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

    Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases av Michelle M. Clark, Zornitza Stark, Lauge Farnaes, Tiong Yang Tan, Susan M. White, David Dimmock, Stephen F. Kingsmore

    Publicerad 2018
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  12. 12
    Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

    Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement av Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M. White, Clara Gaff

    Publicerad 2017
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  13. 13
    Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

    Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders av Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M. White, Tiong Yang Tan

    Publicerad 2018
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  14. 14
    Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

    Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application? av Jan M. Friedman, Yvonne Bombard, Martina C. Cornel, Conrad V. Fernandez, Anne Junker, Sharon E. Plon, Zornitza Stark, Bartha Maria Knoppers

    Publicerad 2018
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  15. 15
    Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i>

    Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i> av Michael P. Guy, Marie Shaw, Catherine L. Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M. Kalscheuer, Jozef Gécz, Eric M. Phizicky

    Publicerad 2015
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  16. 16
    ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

    ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome av Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

    Publicerad 2017
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  17. 17
    Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

    Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness av Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Yang Tan, Clara Gaff, Susan M. White

    Publicerad 2018
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  18. 18
    Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

    Australian Genomics: A Federated Model for Integrating Genomics into Healthcare av Zornitza Stark, Tiffany Boughtwood, Peta Phillips, John Christodoulou, David Hansen, Jeffrey Braithwaite, Ainsley J. Newson, Clara Gaff, Andrew Sinclair, Kathryn N. North

    Publicerad 2019
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  19. 19
    Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

    Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children av Ilias Goranitis, You Wu, Sebastian Lunke, Susan M. White, Tiong Yang Tan, Alison Yeung, Matthew F. Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark

    Publicerad 2022
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  20. 20
    Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

    Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics av Kushani Jayasinghe, Catherine Quinlan, Andrew Mallett, Peter G. Kerr, Belinda McClaren, Amy Nisselle, Amali Mallawaarachchi, Kevan R. Polkinghorne, Chirag Patel, Stephanie Best, Zornitza Stark

    Publicerad 2020
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