Ngā hua rapu - Zornitza Stark

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  1. 1
    Osteopetrosis

    Osteopetrosis mā Zornitza Stark, Ravi Savarirayan

    I whakaputaina 2009
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    Revisão
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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? mā Zornitza Stark, Sian Ellard

    I whakaputaina 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 mā Zoe Fehlberg, Zornitza Stark, Stephanie Best

    I whakaputaina 2024
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    Artigo
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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 mā Dylan Mordaunt, Kim Dalziel, Ilias Goranitis, Zornitza Stark

    I whakaputaina 2023
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    Artigo
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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 mā Alan J. Robertson, Andrew Mallett, Zornitza Stark, Clair Sullivan

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

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

    I whakaputaina 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 mā Deborah Schofield, Luke Rynehart, Rupendra Shresthra, Susan M. White, Zornitza Stark

    I whakaputaina 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 mā Josephine B Oehler, Helen Wright, Zornitza Stark, Andrew Mallett, Ulf Schmitz

    I whakaputaina 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 mā Lin Cheng, Nathasha Kugenthiran, Catherine Quinlan, Zornitza Stark, Kushani Jayasinghe, Stephanie Best

    I whakaputaina 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 mā T. Michael Yates, Pradeep Vasudevan, Kate Chandler, Deirdre E. Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian

    I whakaputaina 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 mā Michelle M. Clark, Zornitza Stark, Lauge Farnaes, Tiong Yang Tan, Susan M. White, David Dimmock, Stephen F. Kingsmore

    I whakaputaina 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 mā Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M. White, Clara Gaff

    I whakaputaina 2017
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    Artigo
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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 mā Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M. White, Tiong Yang Tan

    I whakaputaina 2018
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    Artigo
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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? mā Jan M. Friedman, Yvonne Bombard, Martina C. Cornel, Conrad V. Fernandez, Anne Junker, Sharon E. Plon, Zornitza Stark, Bartha Maria Knoppers

    I whakaputaina 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> mā Michael P. Guy, Marie Shaw, Catherine L. Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M. Kalscheuer, Jozef Gécz, Eric M. Phizicky

    I whakaputaina 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 mā Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

    I whakaputaina 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 mā Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Yang Tan, Clara Gaff, Susan M. White

    I whakaputaina 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 mā Zornitza Stark, Tiffany Boughtwood, Peta Phillips, John Christodoulou, David Hansen, Jeffrey Braithwaite, Ainsley J. Newson, Clara Gaff, Andrew Sinclair, Kathryn N. North

    I whakaputaina 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 mā Ilias Goranitis, You Wu, Sebastian Lunke, Susan M. White, Tiong Yang Tan, Alison Yeung, Matthew F. Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark

    I whakaputaina 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 mā Kushani Jayasinghe, Catherine Quinlan, Andrew Mallett, Peter G. Kerr, Belinda McClaren, Amy Nisselle, Amali Mallawaarachchi, Kevan R. Polkinghorne, Chirag Patel, Stephanie Best, Zornitza Stark

    I whakaputaina 2020
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    Artigo
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