| 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 | 2066 | 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 | 1218 | 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 | 775 | 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 | 426 | 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 | 399 | 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 | 379 | 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 | 303 | 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 | 225 | 2007 |
| Normalization for two-color cDNA microarray data YH Yang, NP Thorne Lecture Notes-Monograph Series, 403-418, 2003 | 215 | 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 | 208 | 2008 |
| BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data JC Marioni, NP Thorne, S Tavaré Bioinformatics 22 (9), 1144-1146, 2006 | 198 | 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 | 162 | 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 | 142 | 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 | 130 | 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 | 124 | 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 | 105 | 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 | 96 | 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 | 86 | 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 | 80 | 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 | 64 | 2007 |
