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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

  • 2017

    Journal article

    Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
    DOI: 10.1016/j.eplepsyres.2017.02.001
  • 2016

    Journal article

    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
    DOI: 10.1038/gim.2016.1
  • 2015

    Journal article

    Cpipe: a shared variant detection pipeline designed for diagnostic settings
    DOI: 10.1186/s13073-015-0191-x
  • 2015

    Journal article

    High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA
    DOI: 10.1186/s12920-015-0107-z
  • 2014

    Journal article

    Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism
    DOI: 10.1373/clinchem.2013.216077
  • 2014

    Journal article

    Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery
    DOI: 10.1371/journal.pone.0086993
  • 2010

    Journal article

    Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation
    DOI: 10.1111/j.1399-0004.2009.01344.x

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