Osteopetrosis

por Stark, Zornitza, Savarirayan, Ravi
Publicado 2009

Drugs, genes and screens: The ethics of preventing and treating spinal muscular atrophy

por Gyngell, Christopher, Stark, Zornitza, Savulescu, Julian
Publicado 2019

Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges

por Arkell, Katie, Gyngell, Christopher, Stark, Zornitza, Vears, Danya F.
Publicado 2023

Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia

por Mordaunt, Dylan A., Dalziel, Kim, Goranitis, Ilias, Stark, Zornitza
Publicado 2023

Determining the utility of diagnostic genomics: a conceptual framework

por Mallett, Andrew, Stark, Zornitza, Fehlberg, Zoe, Best, Stephanie, Goranitis, Ilias
Publicado 2023

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

por Goranitis, Ilias, Best, Stephanie, Christodoulou, John, Stark, Zornitza, Boughtwood, Tiffany
Publicado 2020

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

por Horton, Ari E., Lunke, Sebastian, Sadedin, Simon, Fennell, Andrew P., Stark, Zornitza
Publicado 2023

The application of long-read sequencing in clinical settings

por Oehler, Josephine B., Wright, Helen, Stark, Zornitza, Mallett, Andrew J., Schmitz, Ulf
Publicado 2023

Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia

por Mordaunt, Dylan A, Stark, Zornitza, Santos Gonzalez, Francisco, Dalziel, Kim, Goranitis, Ilias
Publicado 2023

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening

por Forbes, Thomas A, Wallace, Jane, Kumble, Smitha, Delatycki, Martin B, Stark, Zornitza
Publicado 2022

Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants

por McBride, Lucy, Houlihan, Christine, Quinlan, Catherine, Messazos, Betty, Stark, Zornitza, Crosthwaite, Amy
Publicado 2019

Intensive Care Clinicians’ Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants

por Poogoda, Sachini, Lynch, Fiona, Stark, Zornitza, Wilkinson, Dominic, Savulescu, Julian, Vears, Danya, Gyngell, Christopher
Publicado 2023

‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning

por Bowman-Smart, Hilary, Vears, Danya F., Brett, Gemma R., Martyn, Melissa, Stark, Zornitza, Gyngell, Christopher
Publicado 2022

Meeting report of the 2017 KidGen Renal Genetics Symposium

por Jayasinghe, Kushani, Quinlan, Cathy, Stark, Zornitza, Patel, Chirag, Sampson, Matthew G., Saleem, Moin, Mallett, Andrew J.
Publicado 2018

The leadership behaviors needed to implement clinical genomics at scale: a qualitative study

por Best, Stephanie, Stark, Zornitza, Brown, Helen, Long, Janet C., Hewage, Kushani, Gaff, Clara, Braithwaite, Jeffrey, Taylor, Natalie
Publicado 2020

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

por Clark, Michelle M., Stark, Zornitza, Farnaes, Lauge, Tan, Tiong Y., White, Susan M., Dimmock, David, Kingsmore, Stephen F.
Publicado 2018

Theory Designed Strategies to Support Implementation of Genomics in Nephrology

por Kansal, Arushi, Quinlan, Catherine, Stark, Zornitza, Kerr, Peter G., Mallett, Andrew J., Lakshmanan, Chandni, Best, Stephanie, Jayasinghe, Kushani
Publicado 2022

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

por Pandelache, Alison, Baker, Emma K, Aliaga, Solange M., Arpone, Marta, Forbes, Robin, Stark, Zornitza, Francis, David, Godler, David E.
Publicado 2019

Renal genetics in Australia: Kidney medicine in the genomic age

por Jayasinghe, Kushani, Quinlan, Catherine, Stark, Zornitza, Patel, Chirag, Mallawaarachchi, Amali, Wardrop, Louise, Kerr, Peter G, Trnka, Peter, Mallett, Andrew J
Publicado 2018

Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases

por Jayasinghe, Kushani, Wu, You, Stark, Zornitza, Kerr, Peter G., Mallett, Andrew J., Gaff, Clara, Martyn, Melissa, Goranitis, Ilias, Quinlan, Catherine
Publicado 2021