| Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas C Palles, JB Cazier, KM Howarth, E Domingo, AM Jones, P Broderick, ... Nature genetics 45 (2), 136-144, 2013 | 1082 | 2013 |
| Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ... Genetics in Medicine 19 (2), 192-203, 2017 | 669 | 2017 |
| Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature K Schwarze, J Buchanan, JC Taylor, S Wordsworth Genetics in Medicine 20 (10), 1122-1130, 2018 | 529 | 2018 |
| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 402 | 2015 |
| DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer DN Church, SEW Briggs, C Palles, E Domingo, SJ Kearsey, JM Grimes, ... Human molecular genetics 22 (14), 2820-2828, 2013 | 392 | 2013 |
| Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns A Schuh, J Becq, S Humphray, A Alexa, A Burns, R Clifford, SM Feller, ... Blood, The Journal of the American Society of Hematology 120 (20), 4191-4196, 2012 | 379 | 2012 |
| Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy K Abozguia, P Elliott, W McKenna, TT Phan, G Nallur-Shivu, I Ahmed, ... Circulation 122 (16), 1562-1569, 2010 | 363 | 2010 |
| Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1 E Jaeger, S Leedham, A Lewis, S Segditsas, M Becker, PR Cuadrado, ... Nature genetics 44 (6), 699-703, 2012 | 289 | 2012 |
| Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ... Human molecular genetics 23 (12), 3200-3211, 2014 | 275 | 2014 |
| Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation D Wells, K Kaur, J Grifo, M Glassner, JC Taylor, E Fragouli, S Munne Journal of medical genetics 51 (8), 553-562, 2014 | 270 | 2014 |
| SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage R Clifford, T Louis, P Robbe, S Ackroyd, A Burns, AT Timbs, ... Blood, The Journal of the American Society of Hematology 123 (7), 1021-1031, 2014 | 258 | 2014 |
| The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom K Schwarze, J Buchanan, JM Fermont, H Dreau, MW Tilley, JM Taylor, ... Genetics in Medicine 22 (1), 85-94, 2020 | 212 | 2020 |
| Sequencing of human genomes with nanopore technology R Bowden, RW Davies, A Heger, AT Pagnamenta, M de Cesare, ... Nature communications 10 (1), 1869, 2019 | 200 | 2019 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 184 | 2019 |
| DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model S Wordsworth, J Leal, E Blair, R Legood, K Thomson, A Seller, J Taylor, ... European heart journal 31 (8), 926-935, 2010 | 179 | 2010 |
| Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden JB Cazier, SR Rao, CM McLean, AK Walker, BJ Wright, EEM Jaeger, ... Nature communications 5 (1), 3756, 2014 | 166 | 2014 |
| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ... Genetics in Medicine 20 (10), 1175-1185, 2018 | 164 | 2018 |
| Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease ME Shanks, SM Downes, RR Copley, S Lise, J Broxholme, KAZ Hudspith, ... European journal of human genetics 21 (3), 274-280, 2013 | 148 | 2013 |
| Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project P Robbe, N Popitsch, SJL Knight, P Antoniou, J Becq, M He, A Kanapin, ... Genetics in Medicine 20 (10), 1196-1205, 2018 | 143 | 2018 |
| Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL R Guièze, P Robbe, R Clifford, S De Guibert, B Pereira, A Timbs, ... Blood, The Journal of the American Society of Hematology 126 (18), 2110-2117, 2015 | 135 | 2015 |
