Natalie Thorne
Natalie Thorne
The Walter and Eliza Hall Institute of Medical Research and The University of Melbourne, Australia
Verified email at
Cited by
Cited by
Relative impact of nucleotide and copy number variation on gene expression phenotypes
BE Stranger, MS Forrest, M Dunning, CE Ingle, C Beazley, N Thorne, ...
Science 315 (5813), 848-853, 2007
MicroRNA expression profiling of human breast cancer identifies new markers of tumor subtype
C Blenkiron, LD Goldstein, NP Thorne, I Spiteri, SF Chin, MJ Dunning, ...
Genome biology 8, 1-16, 2007
A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis
TA Down, VK Rakyan, DJ Turner, P Flicek, H Li, E Kulesha, S Graef, ...
Nature biotechnology 26 (7), 779-785, 2008
An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)
VK Rakyan, TA Down, NP Thorne, P Flicek, E Kulesha, S Gräf, ...
Genome research 18 (9), 1518-1529, 2008
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ...
Genetics in medicine 18 (11), 1090-1096, 2016
High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer
SF Chin, AE Teschendorff, JC Marioni, Y Wang, NL Barbosa-Morais, ...
Genome biology 8, 1-17, 2007
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions
TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ...
JAMA pediatrics 171 (9), 855-862, 2017
Global microRNA profiles in cervical squamous cell carcinoma depend on Drosha expression levels
B Muralidhar, LD Goldstein, G Ng, DM Winder, RD Palmer, EL Gooding, ...
The Journal of Pathology: A Journal of the Pathological Society of Great …, 2007
Normalization for two-color cDNA microarray data
YH Yang, NP Thorne
Lecture Notes-Monograph Series, 403-418, 2003
Tissue-specific splicing factor gene expression signatures
AR Grosso, AQ Gomes, NL Barbosa-Morais, S Caldeira, NP Thorne, ...
Nucleic acids research 36 (15), 4823-4832, 2008
BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data
JC Marioni, NP Thorne, S Tavaré
Bioinformatics 22 (9), 1144-1146, 2006
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
JC Marioni, NP Thorne, A Valsesia, T Fitzgerald, R Redon, H Fiegler, ...
Genome biology 8, 1-14, 2007
High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA
D Chandrananda, NP Thorne, M Bahlo
BMC medical genomics 8, 1-19, 2015
Using array-comparative genomic hybridization to define molecular portraits of primary breast cancers
SF Chin, Y Wang, NP Thorne, AE Teschendorff, SE Pinder, M Vias, ...
Oncogene 26 (13), 1959-1970, 2007
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
OJ Dillon, S Lunke, Z Stark, A Yeung, N Thorne, ...
European Journal of Human Genetics 26 (5), 644-651, 2018
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
P Perucca, IE Scheffer, AS Harvey, PA James, S Lunke, N Thorne, C Gaff, ...
Epilepsy research 131, 1-8, 2017
Cpipe: a shared variant detection pipeline designed for diagnostic settings
SP Sadedin, H Dashnow, PA James, M Bahlo, DC Bauer, A Lonie, ...
Genome medicine 7, 1-10, 2015
Pediatric malignant germ cell tumors show characteristic transcriptome profiles
RD Palmer, NL Barbosa-Morais, EL Gooding, B Muralidhar, CM Thornton, ...
Cancer research 68 (11), 4239-4247, 2008
Evaluation of computational programs to predict HLA genotypes from genomic sequencing data
DC Bauer, A Zadoorian, LOW Wilson, ...
Briefings in bioinformatics 19 (2), 179-187, 2018
Cell cycle genes are the evolutionarily conserved targets of the E2F4 transcription factor
CM Conboy, C Spyrou, NP Thorne, EJ Wade, NL Barbosa-Morais, ...
PloS one 2 (10), e1061, 2007
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