| Distinct factors control histone variant H3. 3 localization at specific genomic regions AD Goldberg, LA Banaszynski, KM Noh, PW Lewis, SJ Elsaesser, ... Cell 140 (5), 678-691, 2010 | 1416 | 2010 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 977 | 2017 |
| A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 ST Reeders, MH Breuning, KE Davies, RD Nicholls, AP Jarman, ... Nature 317 (6037), 542-544, 1985 | 967 | 1985 |
| The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 European Polycystic Kidney Disease Consortium Cell 77 (6), 881-894, 1994 | 828 | 1994 |
| Thalassaemia DR Higgs, JD Engel, G Stamatoyannopoulos The lancet 379 (9813), 373-383, 2012 | 819* | 2012 |
| A review of the molecular genetics of the human α-globin gene cluster DR Higgs, MA Vickers, AOM Wilkie, IM Pretorius, AP Jarman, ... Blood 73 (5), 1081-1104, 1989 | 819 | 1989 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 788 | 2015 |
| Disorders of hemoglobin: genetics, pathophysiology, and clinical management MH Steinberg, BG Forget, DR Higgs, DJ Weatherall Cambridge University Press, 2009 | 787 | 2009 |
| α-thalassaemia CL Harteveld, DR Higgs Orphanet journal of rare diseases 5, 1-21, 2010 | 785 | 2010 |
| Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome) RJ Gibbons, DJ Picketts, L Villard, DR Higgs Cell 80 (6), 837-845, 1995 | 728 | 1995 |
| Postgraduate haematology AV Hoffbrand, DR Higgs, DM Keeling, AB Mehta John Wiley & Sons, 2016 | 720 | 2016 |
| Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease C Tufarelli, JAS Stanley, D Garrick, JA Sharpe, H Ayyub, WG Wood, ... Nature genetics 34 (2), 157-165, 2003 | 669 | 2003 |
| Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia SS Chong, CD Boehm, DR Higgs, GR Cutting Blood, The Journal of the American Society of Hematology 95 (1), 360-362, 2000 | 631 | 2000 |
| Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation RJ Gibbons, TL McDowell, S Raman, DM O'Rourke, D Garrick, H Ayyub, ... Nature genetics 24 (4), 368-371, 2000 | 601 | 2000 |
| Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment JR Hughes, N Roberts, S McGowan, D Hay, E Giannoulatou, M Lynch, ... Nature genetics 46 (2), 205-212, 2014 | 537 | 2014 |
| ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner MJ Law, KM Lower, HPJ Voon, JR Hughes, D Garrick, V Viprakasit, ... Cell 143 (3), 367-378, 2010 | 479 | 2010 |
| α-Thalassaemia caused by a polyadenylation signal mutation DR Higgs, SEY Goodbourn, J Lamb, JB Clegg, DJ Weatherall, ... Nature 306 (5941), 398-400, 1983 | 453 | 1983 |
| The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies Y Xue, R Gibbons, Z Yan, D Yang, TL McDowell, S Sechi, J Qin, S Zhou, ... Proceedings of the National Academy of Sciences 100 (19), 10635-10640, 2003 | 446 | 2003 |
| 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 | 435 | 2015 |
| A major positive regulatory region located far upstream of the human alpha-globin gene locus. DR Higgs, WG Wood, AP Jarman, J Sharpe, J Lida, IM Pretorius, H Ayyub Genes & development 4 (9), 1588-1601, 1990 | 427 | 1990 |
