|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 (10), 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
|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
|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
|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
|BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data|
JC Marioni, NP Thorne, S Tavaré
Bioinformatics 22 (9), 1144-1146, 2006
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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