Steven J Lubbe

  • 3915 Citations
20062019

Research output per year

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Research Output

  • 3915 Citations
  • 52 Article
  • 3 Letter
  • 1 Review article
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Article
2019

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

Lamb, R., Rohrer, J. D., Real, R., Lubbe, S. J., Waite, A. J., Blake, D. J., Jon Walters, R., Lashley, T., Revesz, T., Holton, J. L. & Morris, H. R., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 3, a003913.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio, M., Invernizzi, F., Gonzàlez-Latapi, P., Panteghini, C., Zorzi, G., Romito, L., Leuzzi, V., Galosi, S., Reale, C., Zibordi, F., Joseph, A. P., Topf, M., Piano, C., Bentivoglio, A. R., Girotti, F., Morana, P., Morana, B., Kurian, M. A., Garavaglia, B., Mencacci, N. E. & 2 others, Lubbe, S. J. & Nardocci, N., Oct 1 2019, In : Movement Disorders. 34, 10, p. 1516-1527 12 p.

Research output: Contribution to journalArticle

4 Scopus citations

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

23andMe Research Team, System Genomics of Parkinson's Disease Consortium & International Parkinson's Disease Genomics Consortium, Dec 1 2019, In : The Lancet Neurology. 18, 12, p. 1091-1102 12 p.

Research output: Contribution to journalArticle

20 Scopus citations

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

The International Parkinson's Disease Genomics Consortium (IPDGC), Apr 1 2019, In : Movement Disorders. 34, 4, p. 460-468 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

The American Genome Center & on behalf of the International Parkinson Disease Genomics Consortium, Dec 1 2019, In : Movement Disorders. 34, 12, p. 1851-1863 13 p.

Research output: Contribution to journalArticle

1 Scopus citations
2018

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Apr 1 2018, In : Neurobiology of Aging. 64, p. 159.e5-159.e8

Research output: Contribution to journalArticle

9 Scopus citations

Recessive mutations in >VPS13D cause childhood onset movement disorders

Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., Carecchio, M., Lubbe, S. J., Telegrafi, A., Henderson, L. B., Lorenzo, K., Wallace, S. E., Glass, I. A., Hamdan, F. F. & 3 others, Michaud, J. L., Rouleau, G. A. & Campeau, P. M., Jun 2018, In : Annals of neurology. 83, 6, p. 1089-1095 7 p.

Research output: Contribution to journalArticle

16 Scopus citations
2017

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

International Parkinson's Disease Genetics Consortium (IPGDC), Jan 30 2017, In : Genome biology. 18, 1, 22.

Research output: Contribution to journalArticle

32 Scopus citations

Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: A case report

Norman, B. P., Lubbe, S. J., Tan, M., Warren, N. & Morris, H. R., Aug 8 2017, In : BMC Neurology. 17, 1, 153.

Research output: Contribution to journalArticle

1 Scopus citations

Establishing the role of rare coding variants in known Parkinson's disease risk loci

International Parkinson's Disease Genomics Consortium, Nov 2017, In : Neurobiology of Aging. 59, p. 220.e11-220.e18

Research output: Contribution to journalArticle

4 Scopus citations

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Blauwendraat, C., Faghri, F., Pihlstrom, L., Geiger, J. T., Elbaz, A., Lesage, S., Corvol, J. C., May, P., Nicolas, A., Abramzon, Y., Murphy, N. A., Gibbs, J. R., Ryten, M., Ferrari, R., Bras, J., Guerreiro, R., Williams, J., Sims, R., Lubbe, S., Hernandez, D. G. & 155 others, Mok, K. Y., Robak, L., Campbell, R. H., Rogaeva, E., Traynor, B. J., Chia, R., Chung, S. J., Hardy, J. A., Brice, A., Wood, N. W., Houlden, H., Shulman, J. M., Morris, H. R., Gasser, T., Krüger, R., Heutink, P., Sharma, M., Simón-Sánchez, J., Nalls, M. A., Singleton, A. B., Scholz, S. W., Noyce, A. J., Brice, A., Brice, A., Brice, A., Giri, A., Oehmig, A., Tucci, A., Nicolas, A., Schulte, C., Cookson, M. R., Blauwendraat, C., Kia, D., Danjou, F., Danjou, F., Danjou, F., Faghri, F., Faghri, F., Charlesworth, G., Gibbs, J. R., Gibbs, J. R., Morris, H. R., Plun-Favreau, H., Hernandez, D. G., Hernandez, D. G., Holmans, P., Morris, H. R., Jansen, I., Hardy, J., Simón-Sánchez, J., Bras, J. M., Shulman, J. M., Quinn, J., Botía, J. A., Mok, K. Y., Billingsley, K., Pihlstrom, L., R’bibo, L., Lungu, C., Sharma, M., Martinez, M., Ryten, M., Escott-Price, V., Mencacci, N. E., Nalls, M. A., Nalls, M. A., Wood, N. W., Lewis, P., Denny, P., Heutink, P., Rizzu, P., Taba, P., Guerreiro, R., Lovering, R., Ogalla, R. D., Foulger, R., Robak, L., Lubbe, S., Finkbeiner, S., Finkbeiner, S., Sveinbjörnsdóttir, S., Sveinbjörnsdóttir, S., Sveinbjörnsdóttir, S., Singleton, A. B., Scholz, S., Koks, S., Lesage, S., Lesage, S., Lesage, S., Corvol, J. C., Corvol, J. C., Corvol, J. C., Corvol, J. C., Foltynie, T., Gasser, T., Price, T. R., Sheerin, U. M., Williams, N., Reed, X., Gasser, T., Krüger, R., Sharma, M., Simón-Sánchez, J., Schulte, C., Heutink, P., Wang, L., Giri, A., Brockmann, K., Oertel, W., Klein, C., Mohamed, F., Malard, L., Elbaz, A., Lesage, S., Corti, O., Drouet, V., Corvol, J. C., Brice, A., Goldwurm, S., Tesei, S., Canesi, M., Valente, E. M., Petrucci, S., Petrucci, S., Ginevrino, M., Ginevrino, M., Toft, M., Pihlstrøm, L., Aasly, J., Henriksen, S. P., Sætehaug, C., Wood, N. W., Houlden, H., Hardy, J., Bras, J., Orr-Urtreger, A., Giladi, N., Ferreira, J., Guedes, L. C., Guedes, L. C., Bouça-Machado, R., Coelho, M., Coelho, M., Rosa, M. M., Rosa, M. M., Tolosa, E., Fernández-Santiago, R., Ezquerra, M., Marti, M. J., Krüger, R., May, P., Glaab, E., Balling, R., Heutink, P. & Chung, S. J., Sep 1 2017, In : Neurobiology of Aging. 57, p. 247.e9-247.e13

Research output: Contribution to journalArticle

23 Scopus citations
2016

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: Evidence for oligogenic inheritance

Lubbe, S. J., Escott-Price, V., Gibbs, J. R., Nalls, M. A., Bras, J., Price, T. R., Nicolas, A., Jansen, I. E., Mok, K. Y., Pittman, A. M., Tomkins, J. E., Lewis, P. A., Noyce, A. J., Lesage, S., Sharma, M., Schiff, E. R., Levine, A. P., Brice, A., Gasser, T., Hardy, J. & 6 others, Heutink, P., Wood, N. W., Singleton, A. B., Williams, N. M., Morris, H. R. & for International Parkinson's Disease Genomics Consortium, Jan 1 2016, In : Human molecular genetics. 25, 24, p. 5483-5489 7 p.

Research output: Contribution to journalArticle

23 Scopus citations

Deletions at 22q11.2 in idiopathic Parkinson's disease: A combined analysis of genome-wide association data

Mok, K. Y., Sheerin, U., Simón-Sánchez, J., Salaka, A., Chester, L., Escott-Price, V., Mantripragada, K., Doherty, K. M., Noyce, A. J., Mencacci, N. E., Lubbe, S. J., Williams-Gray, C. H., Barker, R. A., van Dijk, K. D., Berendse, H. W., Heutink, P., Corvol, J. C., Cormier, F., Lesage, S., Brice, A. & 19 others, Brockmann, K., Schulte, C., Gasser, T., Foltynie, T., Limousin, P., Morrison, K. E., Clarke, C. E., Sawcer, S., Warner, T. T., Lees, A. J., Morris, H. R., Nalls, M. A., Singleton, A. B., Hardy, J., Abramov, A. Y., Plagnol, V., Williams, N. M., Wood, N. W. & International Parkinson's Disease Genomics Consortium (IPDGC), May 1 2016, In : The Lancet Neurology. 15, 6, p. 585-596 12 p.

Research output: Contribution to journalArticle

43 Scopus citations

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S. M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C. A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., Guven, G. & 177 others, Tison, F., Tranchant, C., Vidailhet, M., Corvol, J. C., Krack, P., Leutenegger, A. L., Nalls, M. A., Hernandez, D. G., Heutink, P., Gibbs, J. R., Hardy, J., Wood, N. W., Gasser, T., Durr, A., Deleuze, J. F., Tazir, M., Destée, A., Lohmann, E., Kabashi, E., Singleton, A., Corti, O., Brice, A., Tison, F., Vidailhet, M., Corvol, J. C., Agid, Y., Anheim, M., Bonnet, A. M., Borg, M., Broussolle, E., Damier, P., Destée, A., Dürr, A., Durif, F., Krack, P., Klebe, S., Lohmann, E., Martinez, M., Pollak, P., Rascol, O., Tranchant, C., Vérin, M., Viallet, F., Lesage, S., Majounie, E., Tison, F., Vidailhet, M., Corvol, J. C., Nalls, M. A., Hernandez, D. G., Gibbs, J. R., Dürr, A., Arepalli, S., Barker, R. A., Ben-Shlomo, Y., Berg, D., Bettella, F., Bhatia, K., de Bie, R. M. A., Biffi, A., Bloem, B. R., Bochdanovits, Z., Bonin, M., Bras, J. M., Brockmann, K., Brooks, J., Burn, D. J., Charlesworth, G., Chen, H., Chinnery, P. F., Chong, S., Clarke, C. E., Cookson, M. R., Counsell, C., Damier, P., Dartigues, J. F., Deloukas, P., Deuschl, G., Dexter, D. T., van Dijk, K. D., Dillman, A., Dong, J., Durif, F., Edkins, S., Escott-Price, V., Evans, J. R., Foltynie, T., Gao, J., Gardner, M., Goate, A., Gray, E., Guerreiro, R., Harris, C., van Hilten, J. J., Hofman, A., Hollenbeck, A., Holmans, P., Holton, J., Hu, M., Huang, X., Huber, H., Hudson, G., Hunt, S. E., Huttenlocher, J., Illig, T., Jónsson, P. V., Kilarski, L. L., Jansen, I. E., Lambert, J. C., Langford, C., Lees, A., Lichtner, P., Limousin, P., Lopez, G., Lorenz, D., Lubbe, S., Lungu, C., Martinez, M., Mätzler, W., McNeill, A., Moorby, C., Moore, M., Morrison, K. E., Mudanohwo, E., O’sullivan, S. S., Owen, M. J., Pearson, J., Perlmutter, J. S., Pétursson, H., Plagnol, V., Pollak, P., Post, B., Potter, S., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Saad, M., Simón-Sánchez, J., Sawcer, S., Schapira, A., Scheffer, H., Schulte, C., Sharma, M., Shaw, K., Sheerin, U. M., Shoulson, I., Shulman, J., Sidransky, E., Spencer, C. C. A., Stefánsson, H., Stefánsson, K., Stockton, J. D., Strange, A., Talbot, K., Tanner, C. M., Tashakkori-Ghanbaria, A., Trabzuni, D., Traynor, B. J., Uitterlinden, A. G., Velseboer, D., Walker, R., Warrenburg, B. V. D., Wickremaratchi, M., Williams-Gray, C. H., Winder-Rhodes, S., Wurster, I., Williams, N., Morris, H. R., Heutink, P., Hardy, J., Wood, N. W., Gasser, T., Singleton, A. B. & Brice, A., Mar 3 2016, In : American journal of human genetics. 98, 3, p. 500-513 14 p.

Research output: Contribution to journalArticle

Open Access
111 Scopus citations

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease

Lubbe, S. J., Escott-Price, V., Brice, A., Gasser, T., Pittman, A. M., Bras, J., Hardy, J., Heutink, P., Wood, N. M., Singleton, A. B., Grosset, D. G., Carroll, C. B., Law, M. H., Demenais, F., Iles, M. M., Bishop, D. T., Newton-Bishop, J., Williams, N. M. & Morris, H. R., Dec 1 2016, In : Neurobiology of Aging. 48, p. 222.e1-222.e7

Research output: Contribution to journalArticle

8 Scopus citations
2015

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Kiely, A. P., Ling, H., Asi, Y. T., Kara, E., Proukakis, C., Schapira, A. H., Morris, H. R., Roberts, H. C., Lubbe, S., Limousin, P., Lewis, P. A., Lees, A. J., Quinn, N., Hardy, J., Love, S., Revesz, T., Houlden, H. & Holton, J. L., Aug 27 2015, In : Molecular neurodegeneration. 10, 1, 41.

Research output: Contribution to journalArticle

35 Scopus citations

EIF4G1 mutations do not cause Parkinson's disease

Nichols, N., Bras, J. M., Hernandez, D. G., Jansen, I. E., Lesage, S., Lubbe, S., Singleton, A. B. & International Parkinson's Disease Genomics Consortium, P. D. G. C., Jan 1 2015, In : Neurobiology of Aging. 36, 8, p. 2444.e1-2444.e4

Research output: Contribution to journalArticle

16 Scopus citations

Genetic risk and age in Parkinson's disease: Continuum not stratum

Nalls, M. A., Escott-Price, V., Williams, N. M., Lubbe, S., Keller, M. F., Morris, H. R., Singleton, A. B. & on behalf of the International Parkinson's Disease Genomics Consortium (IPDGC), May 1 2015, In : Movement Disorders. 30, 6, p. 850-854 5 p.

Research output: Contribution to journalArticle

34 Scopus citations

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Nalls, M. A., Bras, J., Hernandez, D. G., Keller, M. F., Majounie, E., Renton, A. E., Saad, M., Jansen, I., Guerreiro, R., Lubbe, S., Plagnol, V., Gibbs, J. R., Schulte, C., Pankratz, N., Sutherland, M., Bertram, L., Lill, C. M., DeStefano, A. L., Faroud, T., Eriksson, N. & 15 others, Tung, J. Y., Edsall, C., Nichols, N., Brooks, J., Arepalli, S., Pliner, H., Letson, C., Heutink, P., Martinez, M., Gasser, T., Traynor, B. J., Wood, N., Hardy, J., Singleton, A. B. & International Parkinson's Disease Genomics Consortium (IPDGC) and the Parkinson's Disease meta-analysis consortium, Mar 1 2015, In : Neurobiology of Aging. 36, 3, p. 1605.e7-1605.e12

Research output: Contribution to journalArticle

55 Scopus citations

Polygenic risk of Parkinson disease is correlated with disease age at onset

Escott-Price, V., Nalls, M. A., Morris, H. R., Lubbe, S., Brice, A., Gasser, T., Heutink, P., Wood, N. W., Hardy, J., Singleton, A. B. & Williams, N. M., Apr 1 2015, In : Annals of neurology. 77, 4, p. 582-591 10 p.

Research output: Contribution to journalArticle

50 Scopus citations

Rsu1 regulates ethanol consumption in Drosophila and humans

Ojelade, S. A., Jia, T., Rodan, A. R., Chenyang, T., Kadrmas, J. L., Cattrell, A., Ruggeri, B., Charoen, P., Lemaitre, H., Banaschewski, T., Büchel, C., Bokde, A. L. W., Carvalho, F., Conrod, P. J., Flor, H., Frouin, V., Gallinat, J., Garavan, H., Gowland, P. A., Heinz, A. & 15 others, Ittermann, B., Lathrop, M., Lubbe, S. J., Martinot, J. L., Pausu, T., Smolka, M. N., Spanagel, R., O'Reilly, P. F., Laitinen, J., Veijola, J. M., Feng, J., Desrivières, S., Jarvelin, M. R., Schumann, G. & Rothenfluh, A., Jul 28 2015, In : Proceedings of the National Academy of Sciences of the United States of America. 112, 30, p. E4085-E4093

Research output: Contribution to journalArticle

Open Access
32 Scopus citations
2014

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Mencacci, N. E., Isaias, I. U., Reich, M. M., Ganos, C., Plagnol, V., Polke, J. M., Bras, J., Hersheson, J., Stamelou, M., Pittman, A. M., Noyce, A. J., Mok, K. Y., Opladen, T., Kunstmann, E., Hodecker, S., Münchau, A., Volkmann, J., Samnick, S., Sidle, K., Nanji, T. & 25 others, Sweeney, M. G., Houlden, H., Batla, A., Zecchinelli, A. L., Pezzoli, G., Marotta, G., Lees, A., Alegria, P., Krack, P., Cormier-Dequaire, F., Lesage, S., Brice, A., Heutink, P., Gasser, T., Lubbe, S. J., Morris, H. R., Taba, P., Koks, S., Majounie, E., Gibbs, J. R., Singleton, A., Hardy, J., Klebe, S., Bhatia, K. P. & Wood, N. W., Sep 2014, In : Brain. 137, 9, p. 2480-2492 13 p.

Research output: Contribution to journalArticle

86 Scopus citations
2013

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals

Dunlop, M. G., Tenesa, A., Farrington, S. M., Ballereau, S., Brewster, D. H., Koessler, T., Pharoah, P., Schafmayer, C., Hampe, J., Völzke, H., Chang-Claude, J., Hoffmeister, M., Brenner, H., Von Holst, S., Picelli, S., Lindblom, A., Jenkins, M. A., Hopper, J. L., Casey, G., Duggan, D. & 26 others, Newcomb, P. A., Abulí, A., Bessa, X., Ruiz-Ponte, C., Castellví-Bel, S., Niittymäki, I., Tuupanen, S., Karhu, A., Aaltonen, L., Zanke, B., Hudson, T., Gallinger, S., Barclay, E., Martin, L., Gorman, M., Carvajal-Carmona, L., Walther, A., Kerr, D., Lubbe, S., Broderick, P., Chandler, I., Pittman, A., Penegar, S., Campbell, H., Tomlinson, I. & Houlston, R. S., Jun 1 2013, In : Gut. 62, 6, p. 871-881 11 p.

Research output: Contribution to journalArticle

71 Scopus citations

Neural mechanisms of attention-deficit/hyperactivity disorder symptoms are stratified by MAOA genotype

Nymberg, C., Jia, T., Lubbe, S. J., Ruggeri, B., Desrivieres, S., Barker, G., Büchel, C., Fauth-Buehler, M., Cattrell, A., Conrod, P., Flor, H., Gallinat, J., Garavan, H., Heinz, A., Ittermann, B., Lawrence, C., Mann, K., Nees, F., Salatino-Oliveira, A., Paillère Martinot, M. L. & 8 others, Paus, T., Rietschel, M., Robbins, T., Smolka, M., Banaschewski, T., Rubia, K., Loth, E. & Schumann, G., Oct 15 2013, In : Biological psychiatry. 74, 8, p. 607-614 8 p.

Research output: Contribution to journalArticle

Open Access
35 Scopus citations
2012

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Dunlop, M. G., Dobbins, S. E., Farrington, S. M., Jones, A. M., Palles, C., Whiffin, N., Tenesa, A., Spain, S., Broderick, P., Ooi, L. Y., Domingo, E., Smillie, C., Henrion, M., Frampton, M., Martin, L., Grimes, G., Gorman, M., Semple, C., Ma, Y. P., Barclay, E. & 372 others, Prendergast, J., Cazier, J. B., Olver, B., Penegar, S., Lubbe, S., Chander, I., Carvajal-Carmona, L. G., Ballereau, S., Lloyd, A., Vijayakrishnan, J., Zgaga, L., Rudan, I., Theodoratou, E., Thomas, H., Maher, E., Evans, G., Walker, L., Halliday, D., Lucassen, A., Paterson, J., Hodgson, S., Homfray, T., Side, L., Izatt, L., Donaldson, A., Tomkins, S., Morrison, P., Brewer, C., Henderson, A., Davidson, R., Murday, V., Cook, J., Haites, N., Bishop, T., Sheridan, E., Green, A., Marks, C., Carpenter, S., Broughton, M., Greenhalge, L., Suri, M., Starr, J. M., Deary, I., Kirac, I., Kovacevia, D., Aaltonen, L. A., Renkonen-Sinisalo, L., Mecklin, J. P., Matsuda, K., Nakamura, Y., Okada, Y., Gallinger, S., Duggan, D. J., Conti, D., Newcomb, P., Hopper, J., Jenkins, M. A., Schumacher, F., Casey, G., Easton, D., Shah, M., Pharoah, P., Lindblom, A., Liu, T., Edler, D., Lenander, C., Dalén, J., Hjern, F., Lundqvist, N., Lindforss, U., Påhlman, L., Smedh, K., Törnqvist, A., Holm, J., Janson, M., Andersson, M., Ekelund, S., Olsson, L., Smith, C. G., West, H., Cheadle, J. P., MacDonald, G., Samuel, L. M., Ahmad, A., Corrie, P., Jodrell, D., Palmer, C., Wilson, C., O'Hagan, J., Smith, D., McDermott, R., Walshe, J., Cassidy, J., McDonald, A., Mohammed, N., White, J., Yosef, H., Breathnach, O., Grogan, L., Thomas, R., Eatock, M., Henry, P., Houston, R., Johnston, P., Wilson, R., Geh, I., Danwata, F., Hindley, A., Susnerwala, S., Bradley, C., Conn, A., Raine, A., Twelves, C., Falk, S., Hopkins, K., Tahir, S., Dhadda, A., Maraveyas, A., Sgouros, J., Teo, M., Ahmad, R., Cleator, S., Creak, A., Lowdell, C., Riddle, P., Benstead, K., Farrugia, D., Reed, N., Shepherd, S., Levine, E., Mullamitha, S., Saunders, M., Valle, J., Wilson, G., Jones, A., Weaver, A., Clark, P. I., Haylock, B., Iqbal, M. I., Myint, A. S., Beesley, S., Sevitt, T., Nicoll, J., Daniel, F., Ford, V., Talbot, T., Butt, M., Hamid, A., MacK, P., Roy, R., Osborne, R., McKinna, F., Alsab, H., Basu, D., Murray, P., Sizer, B., Azam, F. A., Neupane, R., Waterston, A., Glaholm, J., Blesing, C., Lowndes, S., Medisetti, A., Gaya, A., Leslie, M., Maisey, N., Ross, P., Dunn, G., Al-Salihi, O., Wasan, H. S., Tan, L. T., Dent, J., Hofmann, U., Joffe, J. K., Sherwin, E., Soomal, R., Chakrabarti, A., Joseph, S., Van Der Voet, J., Wadd, N. J., Wilson, D., Anjarwalia, S., Hall, J., Hughes, R., Polychronis, A., Scarffe, J. H., Hill, M., James, R. D., Shah, R., Summers, J., Hartley, A., Carney, D., McCaffrey, J., Bystricky, B., O'Reilly, S., Gupta, R., Al-Mishlab, T., Gidden, F., O'Hara, R., Stewart, J., Ashford, R., Glynne-Jones, R., Harrison, M., Mawdsley, S., Barlow, H., Tighe, M., Walther, J., Neal, J., Rees, C., Bridgewater, J., Karp, S., McGovern, U., Atherton, P. J., El-Deeb, H., MacMillan, C., Patel, K., Bessell, E. M., Dickinson, P. D., Potter, V., Jephcott, C., McAdam, K., Wrigley, J., Muthuramalingam, S., O'Callaghan, A., Melcher, L., Braconi, C., Geh, J. I., Palmer, D., Narayana, P., Steven, N., Gaya, A., Rudman, S., Chakraborti, P., Kelly, K., MacGregor, C., Whillis, D., Freebairn, A., Gildersleve, J., Sharif, S., Astras, G., Hickish, T., Beech, D., Ellis, R., Kulkarni, R., Shankland, K., Begent, R., Mayer, A., Meyer, T., Strauss, S., Hall, V., Raj, S., Chau, I., Cunningham, D., Birtle, A., Biswas, A., Wise, M., Cummins, S., Essapen, S., Middleton, G., Topham, C., Langley, R., Webb, A., Wilkins, M., Iveson, T. J., Askill, C., Wagstaff, J., Azzabi, A., Bateman, A., Prejbisz, J., Tsang, D., Ali, N., Jones, A., O'Neill, P., Cottrill, C., Propper, D., Lofts, F. J., Kennedy, J., Anthoney, D. A., Cooper, R., Crellin, A., Melcher, A., Seymour, M., Baughan, C., Alexander, E., Crown, J., Fennelly, D., Adab, F., Giridharan, S., Pedley, I., Wright, K., Bliss, P., Cogill, G., Lo, N., Toy, E., Hochhauser, D., Ledermann, J., Brewster, A., Maughan, T., Mort, D., Mukherjee, S., Dobrowsky, W., Calvert, P., Leonard, G., Ford, H., Moody, A. M., Goriah, S., Wilkins, M., Clive, S., Dawson, L., McLean, C., Phillips, H. A., Gopi, K., Tomlinson, M., Clenton, S., Furniss, D., Hornbuckle, J., Pledge, S., Wadsley, J., Abbas, M., Marshall, E., Harper-Wynne, C., Barnes, A., Kumar, S., Vigneswaran, V., Gollins, S., Genton, M., Sparrow, G., Bale, C., Fuller, C., Mullard, A., Stuart, N., Williams, R., Keane, M., Maughen, T., Adams, R., Madi, A., Hodgkinson, E., Rogers, P., Pope, M., Kaplan, R., Meade, A., Parmar, M., Kenny, S., Fisher, D., Harper, L., Mitchell, J., Nichols, L., Sydes, B., Clement, L., Kay, E., Courtney, C., Gallagher, M., Murphy, C., Thompson, L., Beall, S., Hassan, S., Gracie, R., Griffiths, G., Mason, M., Parker, C., Rudd, R., Johnson, P., Whelan, J., Northover, J., Brown, J., Aapro, M., Stout, R., Midgley, R., Kerr, D. J., Campbell, H., Tomlinson, I. P. & Houlston, R. S., Jul 1 2012, In : Nature Genetics. 44, 7, p. 770-776 7 p.

Research output: Contribution to journalArticle

163 Scopus citations

Comprehensive evaluation of the impact of 14 genetic variants on colorectal cancer phenotype and risk

Lubbe, S. J., Di Bernardo, M. C., Broderick, P., Chandler, I. & Houlston, R. S., Jan 1 2012, In : American journal of epidemiology. 175, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

27 Scopus citations

Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients

Lubbe, S. J., Whiffin, N., Chandler, I., Broderick, P. & Houlston, R. S., Jan 9 2012, In : Carcinogenesis. 33, 1, p. 108-112 5 p.

Research output: Contribution to journalArticle

18 Scopus citations

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

Lubbe, S. J., Pittman, A. M., Olver, B., Lloyd, A., Vijayakrishnan, J., Naranjo, S., Dobbins, S., Broderick, P., Gómez-Skarmeta, J. L. & Houlston, R. S., Aug 16 2012, In : Oncogene. 31, 33, p. 3777-3784 8 p.

Research output: Contribution to journalArticle

25 Scopus citations
2011

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

Lubbe, S. J., Pittman, A. M., Matijssen, C., Twiss, P., Olver, B., Lloyd, A., Qureshi, M., Brown, N., Nye, E., Stamp, G., Blagg, J. & Houlston, R. S., Jan 1 2011, In : Human mutation. 32, 1, p. E1928-E1938

Research output: Contribution to journalArticle

25 Scopus citations

MLH1-93G > a is a risk factor for MSI colorectal cancer

Whiffin, N., Broderick, P., Lubbe, S. J., Pittman, A. M., Penegar, S., Chandler, I. & Houlston, R. S., Aug 11 2011, In : Carcinogenesis. 32, 8, p. 1157-1161 5 p.

Research output: Contribution to journalArticle

27 Scopus citations

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

Tomlinson, I. P. M., Carvajal-Carmona, L. G., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., Palles, C., Broderick, P., Jaeger, E. E. M., Farrington, S., Lewis, A., Prendergast, J. G. D., Pittman, A. M., Theodoratou, E., Olver, B., Walker, M., Penegar, S., Barclay, E., Whiffin, N., Martin, L. & 33 others, Ballereau, S., Lloyd, A., Gorman, M., Lubbe, S., Howie, B., Marchini, J., Ruiz-Ponte, C., Fernandez-Rozadilla, C., Castells, A., Carracedo, A., Castellvi-Bel, S., Duggan, D., Conti, D., Cazier, J. B., Campbell, H., Sieber, O., Lipton, L., Gibbs, P., Martin, N. G., Montgomery, G. W., Young, J., Baird, P. N., Gallinger, S., Newcomb, P., Hopper, J., Jenkins, M. A., Aaltonen, L. A., Kerr, D. J., Cheadle, J., Pharoah, P., Casey, G., Houlston, R. S. & Dunlop, M. G., Jun 1 2011, In : PLoS genetics. 7, 6, e1002105.

Research output: Contribution to journalArticle

151 Scopus citations
2010

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

Theodoratou, E., Campbell, H., Tenesa, A., Houlston, R., Webb, E., Lubbe, S., Broderick, P., Gallinger, S., Croitoru, E. M., Jenkins, M. A., Win, A. K., Cleary, S. P., Koessler, T., Pharoah, P. D., Küry, S., Bézieau, S., Buecher, B., Ellis, N. A., Peterlongo, P., Offit, K. & 12 others, Aaltonen, L. A., Enholm, S., Lindblom, A., Zhou, X. L., Tomlinson, I. P., Moreno, V., Blanco, I., Capellà, G., Barnetson, R., Porteous, M. E., Dunlop, M. G. & Farrington, S. M., Dec 7 2010, In : British Journal of Cancer. 103, 12, p. 1875-1884 10 p.

Research output: Contribution to journalArticle

74 Scopus citations
2009

A cancer-associated Aurora a mutant is mislocalized and misregulated due to loss of interaction with TPX2

Bibby, R. A., Tang, C., Faisal, A., Drosopoulos, K., Lubbe, S., Houlston, R., Bayliss, R. & Linardopoulos, S., Nov 27 2009, In : Journal of Biological Chemistry. 284, 48, p. 33177-33184 8 p.

Research output: Contribution to journalArticle

32 Scopus citations

A genome-wide scan of 10000 gene-centric variants and colorectal cancer risk

Webb, E., Broderick, P., Lubbe, S., Chandler, I., Tomlinson, I. & Houlston, R. S., Jun 4 2009, In : European Journal of Human Genetics. 17, 11, p. 1507-1514 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Clinical implications of the colorectal cancer risk associated with MUTYH mutation

Lubbe, S. J., Di Bernardo, M. C., Chandler, I. P. & Houlston, R. S., Aug 20 2009, In : Journal of Clinical Oncology. 27, 24, p. 3975-3980 6 p.

Research output: Contribution to journalArticle

130 Scopus citations

Implications of familial colorectal cancer risk profiles and microsatellite instability status

Lubbe, S. J., Webb, E. L., Chandler, I. P. & Houlston, R. S., May 1 2009, In : Journal of Clinical Oncology. 27, 13, p. 2238-2244 7 p.

Research output: Contribution to journalArticle

28 Scopus citations

Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals

Ramsay, M., Greenberg, T., Lombard, Z., Labrum, R., Lubbe, S., Aron, S., Marais, A. S., Terry, S., Bercovitch, L. & Viljoen, D., Jun 1 2009, In : Journal of Dermatological Science. 54, 3, p. 198-204 7 p.

Research output: Contribution to journalArticle

5 Scopus citations

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer

Pittman, A. M., Twiss, P., Broderick, P., Lubbe, S., Chandler, I., Penegar, S. & Houlston, R. S., Oct 1 2009, In : International Journal of Cancer. 125, 7, p. 1622-1625 4 p.

Research output: Contribution to journalArticle

26 Scopus citations
2008

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Tomlinson, I. P. M., Webb, E., Carvajal-Carmona, L., Broderick, P., Howarth, K., Pittman, A. M., Spain, S., Lubbe, S., Walther, A., Sullivan, K., Jaeger, E., Fielding, S., Rowan, A., Vijayakrishnan, J., Domingo, E., Chandler, I., Kemp, Z., Qureshi, M., Farrington, S. M., Tenesa, A. & 55 others, Prendergast, J. G. D., Barnetson, R. A., Penegar, S., Barclay, E., Wood, W., Martin, L., Gorman, M., Thomas, H., Peto, J., Bishop, D. T., Gray, R., Maher, E. R., Lucassen, A., Kerr, D., Evans, D. G. R., Schafmayer, C., Buch, S., Völzke, H., Hampe, J., Schreiber, S., John, U., Koessler, T., Pharoah, P., Van Wezel, T., Morreau, H., Wijnen, J. T., Hopper, J. L., Southey, M. C., Giles, G. G., Severi, G., Castellví-Bel, S., Ruiz-Ponte, C., Carracedo, A., Castells, A., Försti, A., Hemminki, K., Vodicka, P., Naccarati, A., Lipton, L., Ho, J. W. C., Cheng, K. K., Sham, P. C., Luk, J., Agúndez, J. A. G., Ladero, J. M., De La Hoya, M., Caldés, T., Niittymäki, I., Tuupanen, S., Karhu, A., Aaltonen, L., Cazier, J. B., Campbell, H., Dunlop, M. G. & Houlston, R. S., May 1 2008, In : Nature Genetics. 40, 5, p. 623-630 8 p.

Research output: Contribution to journalArticle

436 Scopus citations

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

Jaeger, E., Webb, E., Howarth, K., Carvajal-Carmona, L., Rowan, A., Broderick, P., Walther, A., Spain, S., Pittman, A., Kemp, Z., Sullivan, K., Heinimann, K., Lubbe, S., Domingo, E., Barclay, E., Martin, L., Gorman, M., Chandler, I., Vijayakrishnan, J., Wood, W. & 14 others, Papaemmanuil, E., Penegar, S., Qureshi, M., Farrington, S., Tenesa, A., Cazier, J. B., Kerr, D., Gray, R., Peto, J., Dunlop, M., Campbell, H., Thomas, H., Houlston, R. & Tomlinson, I., Jan 1 2008, In : Nature Genetics. 40, 1, p. 26-28 3 p.

Research output: Contribution to journalArticle

237 Scopus citations

Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk

Webb, E., Broderick, P., Chandler, I., Lubbe, S., Penegar, S., Tomlinson, I. P. M. & Houlston, R. S., Dec 16 2008, In : British Journal of Cancer. 99, 12, p. 2088-2093 6 p.

Research output: Contribution to journalArticle

23 Scopus citations

Deciphering the genetics of hereditary non-syndromic colorectal cancer

Papaemmanuil, E., Carvajal-Carmona, L., Sellick, G. S., Kemp, Z., Webb, E., Spain, S., Sullivan, K., Barclay, E., Lubbe, S., Jaeger, E., Vijayakrishnan, J., Broderick, P., Gorman, M., Martin, L., Lucassen, A., Bishop, D. T., Evans, D. G., Maher, E. R., Steinke, V., Rahner, N. & 10 others, Schackert, H. K., Goecke, T. O., Holinski-Feder, E., Propping, P., Van Wezel, T., Wijnen, J., Cazier, J. B., Thomas, H., Houlston, R. S. & Tomlinson, I., Jul 17 2008, In : European Journal of Human Genetics. 16, 12, p. 1477-1486 10 p.

Research output: Contribution to journalArticle

25 Scopus citations

Interleukin-1 receptor antagonist gene polymorphisms are associated with disease severity in Black South Africans with rheumatoid arthritis

Lubbe, S., Tikly, M., van der Merwe, L., Hodkinson, B. & Ramsay, M., Jul 1 2008, In : Joint Bone Spine. 75, 4, p. 422-425 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Les polymorphismes génétiques du gène de l'antagoniste du récepteur de l'IL-1 sont associés à la sévérité de la maladie chez les noirs d'Afrique du Sud atteints de polyarthrite rhumatoïde

Translated title of the contribution: Interleukin-1 receptor antagonist gene polymorphisms are associated with disease severity in black South Africans with rheumatoid arthritisLubbe, S., Tikly, M., van der Merwe, L., Hodkinson, B. & Ramsay, M., Jul 1 2008, In : Revue du Rhumatisme (Edition Francaise). 75, 7, p. 602-606 5 p.

Research output: Contribution to journalArticle

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

Houlston, R. S., Webb, E., Broderick, P., Pittman, A. M., Di Bernardo, M. C., Lubbe, S., Chandler, I., Vijayakrishnan, J., Sullivan, K., Penegar, S., Carvajal-Carmona, L., Howarth, K., Jaeger, E., Spain, S. L., Walther, A., Barclay, E., Martin, L., Gorman, M., Domingo, E., Teixeira, A. S. & 30 others, Kerr, D., Cazier, J. B., Niittymäki, I., Tuupanen, S., Karhu, A., Aaltonen, L. A., Tomlinson, I. P. M., Farrington, S. M., Tenesa, A., Prendergast, J. G. D., Barnetson, R. A., Cetnarskyj, R., Porteous, M. E., Pharoah, P. D. P., Koessler, T., Hampe, J., Buch, S., Schafmayer, C., Tepel, J., Schreiber, S., Völzke, H., Chang-Claude, J., Hoffmeister, M., Brenner, H., Zanke, B. W., Montpetit, A., Hudson, T. J., Gallinger, S., Campbell, H. & Dunlop, M. G., Dec 1 2008, In : Nature Genetics. 40, 12, p. 1426-1435 10 p.

Research output: Contribution to journalArticle

422 Scopus citations

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

Pittman, A. M., Webb, E., Carvajal-Carmona, L., Howarth, K., Di Bernardo, M. C., Broderick, P., Spain, S., Walther, A., Price, A., Sullivan, K., Twiss, P., Fielding, S., Rowan, A., Jaeger, E., Vijayakrishnan, J., Chandler, I., Penegar, S., Qureshi, M., Lubbe, S., Domingo, E. & 44 others, Kemp, Z., Barclay, E., Wood, W., Martin, L., Gorman, M., Thomas, H., Peto, J., Bishop, T., Gray, R., Maher, E. R., Lucassen, A., Kerr, D., Evans, G. R., van Wezel, T., Morreau, H., Wijnen, J. T., Hopper, J. L., Southey, M. C., Giles, G. G., Severi, G., Castellví-Bel, S., Ruiz-Ponte, C., Carracedo, A., Castells, A., Försti, A., Hemminki, K., Vodicka, P., Naccarati, A., Lipton, L., Ho, J. W. C., Cheng, K. K., Sham, P. C., Luk, J., Agúndez, J. A. G., Ladero, J. M., de la Hoya, M., Caldés, T., Niittymäki, I., Tuupanen, S., Karhu, A., Aaltonen, L. A., Cazier, J. B., Tomlinson, I. P. M. & Houlston, R. S., Nov 19 2008, In : Human molecular genetics. 17, 23, p. 3720-3727 8 p.

Research output: Contribution to journalArticle

59 Scopus citations
2007

A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21

Tomlinson, I., Webb, E., Carvajal-Carmona, L., Broderick, P., Kemp, Z., Spain, S., Penegar, S., Chandler, I., Gorman, M., Wood, W., Barclay, E., Lubbe, S., Martin, L., Sellick, G., Jaeger, E., Hubner, R., Wild, R., Rowan, A., Fielding, S., Howarth, K. & 12 others, Silver, A., Atkin, W., Muir, K., Logan, R., Kerr, D., Johnstone, E., Sieber, O., Gray, R., Thomas, H., Peto, J., Cazier, J. B. & Houlston, R., Aug 1 2007, In : Nature Genetics. 39, 8, p. 984-988 5 p.

Research output: Contribution to journalArticle

646 Scopus citations

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

Broderick, P., Carvajal-Carmona, L., Pittman, A. M., Webb, E., Howarth, K., Rowan, A., Lubbe, S., Spain, S., Sullivan, K., Fielding, S., Jaeger, E., Vijayakrishnan, J., Kemp, Z., Gorman, M., Chandler, I., Papaemmanuil, E., Penegar, S., Wood, W., Sellick, G., Qureshi, M. & 11 others, Teixeira, A., Domingo, E., Barclay, E., Martin, L., Sieber, O., Kerr, D., Gray, R., Peto, J., Cazier, J. B., Tomlinson, I. & Houlston, R. S., Nov 1 2007, In : Nature Genetics. 39, 11, p. 1315-1317 3 p.

Research output: Contribution to journalArticle

392 Scopus citations

Microsatellite instability indicative of defects in the major mismatch repair genes is rare in patients with B-cell chronic lymphocytic leukemia: Evaluation with disease stage and family history

Sellick, G. S., Lubbe, S. J., Matutes, E., Catovsky, D. & Houlston, R. S., Jul 1 2007, In : Leukemia and Lymphoma. 48, 7, p. 1320-1322 3 p.

Research output: Contribution to journalArticle

1 Scopus citations

MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer

Hubner, R. A., Lubbe, S., Chandler, I. & Houlston, R. S., May 1 2007, In : Human molecular genetics. 16, 9, p. 1072-1077 6 p.

Research output: Contribution to journalArticle

27 Scopus citations