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/s41431-019-0471-92019
Journal article
Preparing Australia for genomic medicine: data, computing and digital health
DOI: 10.5694/mja2.500322018
Journal article
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
DOI: 10.1038/s41431-018-0099-12017
Journal article
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
DOI: 10.1038/ejhg.2017.1232017
Journal article
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
DOI: 10.1001/jamapediatrics.2017.17552017
Journal article
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX
DOI: 10.1002/humu.231902017
Journal article
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
DOI: 10.1002/acn3.409
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.2017.02.0012016
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.2016.12015
Journal article
Cpipe: a shared variant detection pipeline designed for diagnostic settings
DOI: 10.1186/s13073-015-0191-x2015
Journal article
High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA
DOI: 10.1186/s12920-015-0107-z2014
Journal article
Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism
DOI: 10.1373/clinchem.2013.2160772014
Journal article
Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery
DOI: 10.1371/journal.pone.00869932010
Journal article
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation
DOI: 10.1111/j.1399-0004.2009.01344.x