Natalie Thorne
Natalie Thorne
The Walter and Eliza Hall Institute of Medical Research and The University of Melbourne, Australia
Potvrđena adresa e-pošte na
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 (10), 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 (10), 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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