| Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution BT Wilhelm, S Marguerat, S Watt, F Schubert, V Wood, I Goodhead, ... Nature 453 (7199), 1239-1243, 2008 | 1217 | 2008 |
| Periodic gene expression program of the fission yeast cell cycle G Rustici, J Mata, K Kivinen, P Lió, CJ Penkett, G Burns, J Hayles, ... Nature genetics 36 (8), 809-817, 2004 | 602 | 2004 |
| The polygenic and monogenic basis of blood traits and diseases D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas, T Jiang, MH Chen, ... MedRxiv, 2020 | 468 | 2020 |
| Arginine methylation at histone H3R2 controls deposition of H3K4 trimethylation A Kirmizis, H Santos-Rosa, CJ Penkett, MA Singer, M Vermeulen, M Mann, ... Nature 449 (7164), 928-932, 2007 | 430 | 2007 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 429 | 2017 |
| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 423 | 2020 |
| Whole-genome sequencing of patients with rare diseases in a national health system. E Turro Bassols, WJ Astle, K Megy, S Graf, D Greene, O Shamardina, ... | 423* | 2020 |
| Rapidly regulated genes are intron poor DC Jeffares, CJ Penkett, J Bähler Trends in genetics 24 (8), 375-378, 2008 | 383 | 2008 |
| Distinct epigenomic features in end-stage failing human hearts M Movassagh, MK Choy, DA Knowles, L Cordeddu, S Haider, T Down, ... Circulation 124 (22), 2411-2422, 2011 | 304 | 2011 |
| Genome‐wide characterization of fission yeast DNA replication origins C Heichinger, CJ Penkett, J Bähler, P Nurse The EMBO journal 25 (21), 5171-5179, 2006 | 241 | 2006 |
| Whole-genome microarrays of fission yeast: characteristics, accuracy, reproducibility, and processing of array data R Lyne, G Burns, J Mata, CJ Penkett, G Rustici, D Chen, C Langford, ... BMC genomics 4 (1), 27, 2003 | 231 | 2003 |
| Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans P Tuijnenburg, HL Allen, SO Burns, D Greene, MH Jansen, E Staples, ... Journal of Allergy and Clinical Immunology 142 (4), 1285-1296, 2018 | 214 | 2018 |
| PDBe: protein data bank in Europe S Velankar, Y Alhroub, A Alili, C Best, HC Boutselakis, S Caboche, ... Nucleic acids research 39 (suppl_1), D402-D410, 2010 | 213 | 2010 |
| Multiple pathways differentially regulate global oxidative stress responses in fission yeast D Chen, CRM Wilkinson, S Watt, CJ Penkett, WM Toone, N Jones, ... Molecular biology of the cell 19 (1), 308-317, 2008 | 205 | 2008 |
| A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ... Blood, The Journal of the American Society of Hematology 127 (23), 2791-2803, 2016 | 193 | 2016 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), 2019 | 189 | 2019 |
| Whole-genome sequencing of a sporadic primary immunodeficiency cohort JED Thaventhiran, HL Allen, OS Burren, W Rae, D Greene, E Staples, ... Nature, 1-6, 2020 | 186 | 2020 |
| Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders K Downes, K Megy, D Duarte, M Vries, J Gebhart, S Hofer, O Shamardina, ... Blood 134 (23), 2082-2091, 2019 | 170 | 2019 |
| Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short-and long-read genome sequencing A Sanchis-Juan, J Stephens, CE French, N Gleadall, K Mégy, C Penkett, ... Genome medicine 10 (1), 1-10, 2018 | 159 | 2018 |
| A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss S Stritt, P Nurden, E Turro, D Greene, SB Jansen, SK Westbury, ... Blood 127 (23), 2903-2914, 2016 | 154 | 2016 |
