| Ensembl 2018 DR Zerbino, P Achuthan, W Akanni, MR Amode, D Barrell, J Bhai, K Billis, ... Nucleic acids research 46 (D1), D754-D761, 2018 | 3026 | 2018 |
| Ensembl 2020 AD Yates, P Achuthan, W Akanni, J Allen, J Allen, J Alvarez-Jarreta, ... Nucleic acids research 48 (D1), D682-D688, 2020 | 1729 | 2020 |
| The allelic landscape of human blood cell trait variation and links to common complex disease WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa, AL Mann, D Mead, ... Cell 167 (5), 1415-1429. e19, 2016 | 1162 | 2016 |
| Ensembl 2019 F Cunningham, P Achuthan, W Akanni, J Allen, MR Amode, IM Armean, ... Nucleic acids research 47 (D1), D745-D751, 2019 | 974 | 2019 |
| Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters BM Javierre, OS Burren, SP Wilder, R Kreuzhuber, SM Hill, S Sewitz, ... Cell 167 (5), 1369-1384. e19, 2016 | 959 | 2016 |
| Ensembl 2017 BL Aken, P Achuthan, W Akanni, MR Amode, F Bernsdorff, J Bhai, K Billis, ... Nucleic acids research 45 (D1), D635-D642, 2017 | 615 | 2017 |
| The International Human Epigenome Consortium: a blueprint for scientific collaboration and discovery HG Stunnenberg, S Abrignani, D Adams, M de Almeida, L Altucci, V Amin, ... Cell 167 (5), 1145-1149, 2016 | 508 | 2016 |
| Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome CA Albers, DS Paul, H Schulze, K Freson, JC Stephens, PA Smethurst, ... Nature genetics 44 (4), ng. 1083, 2012 | 460 | 2012 |
| Detection of Atherosclerotic Inflammation by 68Ga-DOTATATE PET Compared to [18F]FDG PET Imaging JM Tarkin, FR Joshi, NR Evans, MM Chowdhury, NL Figg, AV Shah, ... Journal of the American College of Cardiology 69 (14), 1774-1791, 2017 | 379 | 2017 |
| Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome CA Albers, A Cvejic, R Favier, EE Bouwmans, MC Alessi, P Bertone, ... Nature genetics 43 (8), 735-737, 2011 | 326 | 2011 |
| Transcriptional diversity during lineage commitment of human blood progenitors L Chen, M Kostadima, JHA Martens, G Canu, SP Garcia, E Turro, ... Science 345 (6204), 1251033, 2014 | 325 | 2014 |
| 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 | 189 | 2016 |
| The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia R Beekman, V Chapaprieta, N Russiņol, R Vilarrasa-Blasi, ... Nature medicine 24 (6), 868-880, 2018 | 184 | 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, The Journal of the American Society of Hematology 127 (23), 2903-2914, 2016 | 148 | 2016 |
| SMIM1 underlies the Vel blood group and influences red blood cell traits A Cvejic, L Haer-Wigman, JC Stephens, M Kostadima, PA Smethurst, ... Nature genetics 45 (5), 542-545, 2013 | 129 | 2013 |
| Dynamics of transcription regulation in human bone marrow myeloid differentiation to mature blood neutrophils L Grassi, F Pourfarzad, S Ullrich, A Merkel, F Were, ... Cell reports 24 (10), 2784-2794, 2018 | 112 | 2018 |
| A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies E Turro, D Greene, A Wijgaerts, C Thys, C Lentaigne, TK Bariana, ... Science translational medicine 8 (328), 328ra30-328ra30, 2016 | 109 | 2016 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 97 | 2020 |
| Platelet function is modified by common sequence variation in megakaryocyte super enhancers R Petersen, JJ Lambourne, BM Javierre, L Grassi, R Kreuzhuber, ... Nature communications 8 (1), 16058, 2017 | 61 | 2017 |
| Human gene correlation analysis (HGCA): a tool for the identification of transcriptionally co-expressed genes I Michalopoulos, GA Pavlopoulos, A Malatras, A Karelas, MA Kostadima, ... BMC research notes 5, 1-11, 2012 | 34 | 2012 |
