| The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis PH Maxwell, MS Wiesener, GW Chang, SC Clifford, EC Vaux, ... Nature 399 (6733), 271-275, 1999 | 6312 | 1999 |
| Identification of the von Hippel-Lindau disease tumor suppressor gene F Latif, K Tory, J Gnarra, M Yao, FM Duh, ML Orcutt, T Stackhouse, ... Science 260 (5112), 1317-1320, 1993 | 3574 | 1993 |
| Hypoxia inducible factor-α binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein ME Cockman, N Masson, DR Mole, P Jaakkola, GW Chang, SC Clifford, ... Journal of Biological Chemistry 275 (33), 25733-25741, 2000 | 1419 | 2000 |
| Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma D Astuti, F Latif, A Dallol, PLM Dahia, F Douglas, E George, F Sköldberg, ... The American Journal of Human Genetics 69 (1), 49-54, 2001 | 1287 | 2001 |
| Clinical features and natural history of von Hippel-Lindau disease ER Maher, JRW Yates, R Harries, C Benjamin, R Harris, AT Moore, ... QJM: An International Journal of Medicine 77 (2), 1151-1163, 1990 | 1166 | 1990 |
| Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial J Burn, AM Gerdes, F Macrae, JP Mecklin, G Moeslein, S Olschwang, ... The Lancet 378 (9809), 2081-2087, 2011 | 1157 | 2011 |
| 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 | 1115 | 2013 |
| Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome ML Nickerson, MB Warren, JR Toro, V Matrosova, G Glenn, ML Turner, ... Cancer cell 2 (2), 157-164, 2002 | 1041 | 2002 |
| von Hippel–Lindau disease: A clinical and scientific review ER Maher, HPH Neumann, S Richard European Journal of Human Genetics 19 (6), 617-623, 2011 | 815 | 2011 |
| Familial gastric cancer: overview and guidelines for management C Caldas, F Carneiro, HT Lynch, J Yokota, GL Wiesner, SM Powell, ... Journal of medical genetics 36 (12), 873-880, 1999 | 811 | 1999 |
| VHL, the story of a tumour suppressor gene L Gossage, T Eisen, ER Maher Nature Reviews Cancer 15 (1), 55-64, 2015 | 783 | 2015 |
| Beckwith-Wiedemann syndrome and assisted reproduction technology (ART) ER Maher, LA Brueton, SC Bowdin, A Luharia, W Cooper, TR Cole, ... Journal of medical genetics 40 (1), 62-64, 2003 | 765 | 2003 |
| Von Hippel-Lindau disease: a genetic study. ER Maher, L Iselius, JR Yates, M Littler, C Benjamin, R Harris, J Sampson, ... Journal of medical genetics 28 (7), 443-447, 1991 | 736 | 1991 |
| von Hippel-Lindau disease ER Maher, WG Kaelin Jr Medicine 76 (6), 381-391, 1997 | 709 | 1997 |
| Birt-Hogg-Dubé syndrome: diagnosis and management FH Menko, MAM Van Steensel, S Giraud, L Friis-Hansen, S Richard, ... The lancet oncology 10 (12), 1199-1206, 2009 | 669 | 2009 |
| A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23. 3 IPM Tomlinson, E Webb, L Carvajal-Carmona, P Broderick, K Howarth, ... Nature genetics 40 (5), 623-630, 2008 | 659 | 2008 |
| HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron SJ Mandriota, KJ Turner, DR Davies, PG Murray, NV Morgan, HM Sowter, ... Cancer cell 1 (5), 459-468, 2002 | 631 | 2002 |
| Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan B Zbar, T Kishida, F Chen, L Schmidt, ER Maher, FM Richards, ... Human mutation 8 (4), 348-357, 1996 | 630 | 1996 |
| PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ... Nature genetics 38 (7), 752-754, 2006 | 588 | 2006 |
| Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study J Lord, DJ McMullan, RY Eberhardt, G Rinck, SJ Hamilton, ... The Lancet 393 (10173), 747-757, 2019 | 567 | 2019 |