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European Journal of Human Genetics : EJHG|November 8, 2021
Rapid genomic testing for critically ill children: time to become standard of care?Zornitza Stark, Sian Ellard
Orphanet Journal of Rare Diseases|February 24, 2009
OsteopetrosisZornitza Stark, Ravi Savarirayan
European Journal of Human Genetics : EJHG|July 23, 2026
Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ studyNathasha Kugenthiran, Erin Tutty, Anaita Kanga-Parabia, et al.
European Journal of Human Genetics : EJHG|February 24, 2026
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ studyErin Tutty, Anaita Kanga-Parabia, Nathasha Kugenthiran, et al.
NPJ Genomic Medicine|February 14, 2026
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ studyLilian Downie, Jade Caruana, Nathasha Kugenthiran, et al.
Nature Reviews. Genetics|June 29, 2023
Genomic newborn screening for rare diseasesZornitza Stark, Richard H Scott
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.
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.
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.
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