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FEATURED Journal article
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
Read moreNatalie Thorne's selected work
Preparing Australia for genomic medicine: data, computing and digital health
Journal article
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels..
Journal article
A clinically driven variant prioritization framework outperforms purely computational appr..
Journal article
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children W..
Journal article
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Hom..
Journal article
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
Journal article
Natalie Thorne's selected work
Scholarly Works
Displaying the 10 most recent scholarly works by Natalie Thorne.
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Honorary
Medical Biology (W.E.H.I.)