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Zornitza Stark

Showing results (121-130 of 270) with videos related to

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Human Genomics|May 9, 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?Fiona Lynch, Stephanie Best, Clara Gaff, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
How parents decide whether to have genomic newborn screening: experiences from BabyScreenAnaita Kanga-Parabia, Erin Tutty, Nathasha Kugenthiran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 1, 2023
Response to Lombardi and MesnardYou Wu, Kushani Jayasinghe, Zornitza Stark, et al.
British Journal of Haematology|April 5, 2022
Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotypePiers Blombery, Georgina L Ryland, Lucy C Fox, et al.
International Journal of Neonatal Screening|January 22, 2024
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for ImplementationFiona Lynch, Stephanie Best, Clara Gaff, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES dataZornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
NPJ Genomic Medicine|January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national levelStephanie Best, Helen Brown, Sebastian Lunke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2024
Gene selection for genomic newborn screening: Moving toward consensus?Lilian Downie, Sophie E Bouffler, David J Amor, et al.
American Journal of Human Genetics|March 11, 2025
The expanding global genomics landscape: Converging priorities from national genomics programsCaitlin Howley, Matilda A Haas, Wadha A Al Muftah, et al.
Pageof 27

Showing results (121-130 of 270) with videos related to

Sort By:
Pageof 27
Human Genomics|May 9, 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?Fiona Lynch, Stephanie Best, Clara Gaff, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
How parents decide whether to have genomic newborn screening: experiences from BabyScreenAnaita Kanga-Parabia, Erin Tutty, Nathasha Kugenthiran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 1, 2023
Response to Lombardi and MesnardYou Wu, Kushani Jayasinghe, Zornitza Stark, et al.
British Journal of Haematology|April 5, 2022
Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotypePiers Blombery, Georgina L Ryland, Lucy C Fox, et al.
International Journal of Neonatal Screening|January 22, 2024
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for ImplementationFiona Lynch, Stephanie Best, Clara Gaff, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES dataZornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
NPJ Genomic Medicine|January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national levelStephanie Best, Helen Brown, Sebastian Lunke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2024
Gene selection for genomic newborn screening: Moving toward consensus?Lilian Downie, Sophie E Bouffler, David J Amor, et al.
American Journal of Human Genetics|March 11, 2025
The expanding global genomics landscape: Converging priorities from national genomics programsCaitlin Howley, Matilda A Haas, Wadha A Al Muftah, et al.
Pageof 27