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European Journal of Human Genetics : EJHG|June 21, 2024
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time frameworkErin Tutty, Alison D Archibald, Lilian Downie, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disordersOliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 2, 2024
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing studyDylan A Mordaunt, Francisco Santos Gonzalez, Sebastian Lunke, et al.
American Journal of Human Genetics|May 29, 2025
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in AustraliaRiccarda Peters, Stephanie Best, Fiona Lynch, et al.
Molecular Syndromology|April 8, 2020
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver FailureChristopher M Richmond, Sally Campbell, Hee W Foo, et al.
European Journal of Human Genetics : EJHG|February 26, 2026
Mainstreaming genomic testing for mitochondrial disease in AustraliaMegan Ball, Naomi Baker, Sze Chern Lim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2022
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and childrenIlias Goranitis, You Wu, Sebastian Lunke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectivenessZornitza Stark, Deborah Schofield, Melissa Martyn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2018
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectivenessZornitza Stark, Deborah Schofield, Melissa Martyn, et al.
European Journal of Human Genetics : EJHG|June 27, 2026
Australian parents' perspectives on extended genomic screening: what information to return and when?Fiona Lynch, Christopher Gyngell, Stephanie Best, et al.
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