Contact

Email

npthorne@unimelb.edu.au

Credentials

Position

Medical Biology (W.E.H.I.)

Dr. Natalie Thorne

Honorary
Medical Biology (W.E.H.I.)
14 Scholarly works
0 Projects

HIGHLIGHTS

  • 2019

    Journal article

    A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
    DOI: 10.1038/s41431-019-0471-9
  • 2019

    Journal article

    Preparing Australia for genomic medicine: data, computing and digital health
    DOI: 10.5694/mja2.50032
  • 2018

    Journal article

    Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
    DOI: 10.1038/s41431-018-0099-1
  • 2017

    Journal article

    A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
    DOI: 10.1038/ejhg.2017.123
  • 2017

    Journal article

    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
    DOI: 10.1001/jamapediatrics.2017.1755
  • 2017

    Journal article

    An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX
    DOI: 10.1002/humu.23190
  • 2017

    Journal article

    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
    DOI: 10.1002/acn3.409
Natalie Thorne

RECENT SCHOLARLY WORKS