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Eamonn Maher
Eamonn Maher
Verified email at medschl.cam.ac.uk
Title
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Cited by
Year
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
61201999
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
34991993
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
13792000
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
12592001
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
11292011
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
11281990
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
10672013
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
10132002
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
7901999
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
7722011
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
7492003
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7362015
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
7151991
VHL, the story of a tumour suppressor gene
L Gossage, T Eisen, ER Maher
Nature Reviews Cancer 15 (1), 55-64, 2015
7102015
von Hippel-Lindau disease
ER Maher, WG Kaelin Jr
Medicine 76 (6), 381-391, 1997
6961997
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
6502008
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
6302009
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
6202002
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
6151996
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
5732006
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