Natalie Thorne
Natalie Thorne
The Walter and Eliza Hall Institute of Medical Research and The University of Melbourne, Australia
Verified email at wehi.edu.au
Title
Cited by
Cited by
Year
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
18602007
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 (10), 1-16, 2007
10732007
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
6872008
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
3912008
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 (10), 1-17, 2007
3302007
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
2462016
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
2042007
Normalization for two-color cDNA microarray data
YH Yang, NP Thorne
Lecture Notes-Monograph Series, 403-418, 2003
1932003
BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data
JC Marioni, NP Thorne, S Tavaré
Bioinformatics 22 (9), 1144-1146, 2006
1922006
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
1792017
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
1642008
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 (10), 1-14, 2007
1622007
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
1212007
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), 1-19, 2015
812015
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
732008
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), 1-10, 2015
632015
MMASS: an optimized array-based method for assessing CpG island methylation
AEK Ibrahim, NP Thorne, K Baird, NL Barbosa-Morais, S Tavare, ...
Nucleic acids research 34 (20), e136-e136, 2006
592006
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
582017
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
572007
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, C Gaff, SM White, TY Tan
European Journal of Human Genetics 26 (5), 644-651, 2018
472018
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