| Germline mutations in RAD51D confer susceptibility to ovarian cancer C Loveday, C Turnbull, E Ramsay, D Hughes, E Ruark, JR Frankum, ... Nature genetics 43 (9), 879-882, 2011 | 614 | 2011 |
| Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability K Tatton-Brown, S Seal, E Ruark, J Harmer, E Ramsay, ... Nature genetics 46 (4), 385-388, 2014 | 349 | 2014 |
| Germline RAD51C mutations confer susceptibility to ovarian cancer C Loveday, C Turnbull, E Ruark, RMM Xicola, E Ramsay, D Hughes, ... Nature genetics 44 (5), 475-476, 2012 | 298 | 2012 |
| Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer E Ruark, K Snape, P Humburg, C Loveday, I Bajrami, R Brough, ... Nature 493 (7432), 406-410, 2013 | 274 | 2013 |
| Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients A George, D Riddell, S Seal, S Talukdar, S Mahamdallie, E Ruark, ... Scientific Reports 6, 2016 | 215 | 2016 |
| Resolving the Full Spectrum of Human Genome Variation using Linked-Reads P Marks, S Garcia, AM Barrio, K Belhocine, J Bernate, R Bharadwaj, ... bioRxiv, 230946, 2017 | 214 | 2017 |
| Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability K Tatton-Brown, C Loveday, S Yost, M Clarke, E Ramsay, A Zachariou, ... The American Journal of Human Genetics 100 (5), 725-736, 2017 | 207 | 2017 |
| Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height K Tatton-Brown, S Hanks, E Ruark, A Zachariou, SDV Duarte, E Ramsay, ... Oncotarget 2 (12), 1127-1133, 2011 | 179 | 2011 |
| Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14 E Ruark, S Seal, H McDonald, F Zhang, A Elliot, KW Lau, E Perdeaux, ... Nature genetics 45 (6), 686-689, 2013 | 163 | 2013 |
| Mutations in CEP57 cause mosaic variegated aneuploidy syndrome K Snape, S Hanks, E Ruark, P Barros-Núñez, A Elliott, A Murray, AH Lane, ... Nature genetics 43 (6), 527-529, 2011 | 147 | 2011 |
| Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation S Yost, B de Wolf, S Hanks, A Zachariou, C Marcozzi, M Clarke, ... Nature Genetics, 2017 | 129 | 2017 |
| Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour S Hanks, ER Perdeaux, S Seal, E Ruark, SS Mahamdallie, A Murray, ... Nature communications 5, 2014 | 106 | 2014 |
| Identification of new Wilms tumour predisposition genes: an exome sequencing study S Mahamdallie, S Yost, E Poyastro-Pearson, E Holt, A Zachariou, S Seal, ... The Lancet Child & Adolescent Health, 2019 | 102 | 2019 |
| Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth C Loveday, K Tatton-Brown, M Clarke, I Westwood, A Renwick, E Ramsay, ... Human molecular genetics 24 (17), 4775-4779, 2015 | 98 | 2015 |
| Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN A Fowler, S Mahamdallie, E Ruark, S Seal, E Ramsay, M Clarke, I Uddin, ... Wellcome Open Research 1, 2016 | 94 | 2016 |
| Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer K Snape, E Ruark, P Tarpey, A Renwick, C Turnbull, S Seal, A Murray, ... Breast cancer research and treatment 134 (1), 429-433, 2012 | 76 | 2012 |
| A genome-wide association study identifies susceptibility loci for Wilms tumor C Turnbull, ER Perdeaux, D Pernet, A Naranjo, A Renwick, S Seal, ... Nature genetics 44 (6), 681-684, 2012 | 76 | 2012 |
| Mutations in the transcriptional repressor REST predispose to Wilms tumor SS Mahamdallie, S Hanks, KL Karlin, A Zachariou, ER Perdeaux, E Ruark, ... Nature genetics 47 (12), 1471-1474, 2015 | 67 | 2015 |
| CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting M Münz, E Ruark, A Renwick, E Ramsay, M Clarke, S Mahamdallie, ... Genome Med 7 (1), 76, 2015 | 64 | 2015 |
| The ICR1000 UK exome series: a resource of gene variation in an outbred population E Ruark, M Münz, A Renwick, M Clarke, E Ramsay, S Hanks, ... F1000Research 4, 2015 | 26 | 2015 |
