Search results

• 2010

  Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

  Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., Ramser, J., Honisch, E., Kubisch, C., Wichmann, H. E., Kast, K., Deissler, H., Engel, C., Mueller-Myhsok, B., Neveling, K., Kiechle, M., & 4 othersMathew, C. G., Schindler, D., Schmutzler, R. K. & Hanenberg, H., May 2010, In: Nature Genetics. 42, 5, p. 410 - U65 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Breast Cancer 100%
  • Gene 100%
  • Ovarian Cancer 100%
  • Cancer Susceptibility 100%
  • RAD51C 100%
  593 Citations (Scopus)

• Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

  Prescott, N. J., Dominy, K. M., Kubo, M., Lewis, C. M., Fisher, S. A., Redon, R., Huang, N., Stranger, B. E., Blaszczyk, K., Hudspith, B., Parkes, G., Hosono, N., Yamazaki, K., Onnie, C. M., Forbes, A., Dermitzakis, E. T., Nakamura, Y., Mansfield, J. C., Sanderson, J., Hurles, M. E., & 2 othersRoberts, R. G. & Mathew, C. G., 27 Jan 2010, In: Human Molecular Genetics. 19, 9, p. 1828 - 1839 12 p., ddq041.

  Research output: Contribution to journal › Article › peer-review

  • Copy-Number Variation 100%
  • Gene 75%
  • Haplotype 50%
  • Indel 50%
  • Protein 25%
  90 Citations (Scopus)

• Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease

  Aldhous, M. C., Abu Bakar, S., Prescott, N. J., Palla, R., Soo, K., Mansfield, J. C., Mathew, C. G., Satsangi, J. & Armour, J. A. L., Dec 2010, In: Human Molecular Genetics. 19, 24, p. 4930 - 4938 9 p., ddq411.

  Research output: Contribution to journal › Article › peer-review

  • Copy-Number Variation 100%
  • Case-Control Study 50%
  • Gene 25%
  82 Citations (Scopus)

• Meta-analysis and imputation refines the association of 15q25 with smoking quantity

  Liu, J. Z., Tozzi, F., Waterworth, D. M., Pillai, S. G., Muglia, P., Middleton, L., Berrettini, W., Knouff, C. W., Yuan, X., Waeber, G., Vollenweider, P., Preisig, M., Wareham, N. J., Zhao, J. H., Loos, R. J. F., Barroso, I., Khaw, K-T., Grundy, S., Barter, P., Mahley, R., & 86 othersKesaniemi, A., McPherson, R., Vincent, J. B., Strauss, J., Kennedy, J. L., Farmer, A., McGuffin, P., Day, R., Matthews, K., Bakke, P., Gulsvik, A., Lucae, S., Ising, M., Brueckl, T., Horstmann, S., Wichmann, H-E., Rawal, R., Dahmen, N., Lamina, C., Polasek, O., Zgaga, L., Huffman, J., Campbell, S., Kooner, J., Chambers, J. C., Burnett, M. S., Devaney, J. M., Pichard, A. D., Kent, K. M., Satler, L., Lindsay, J. M., Waksman, R., Epstein, S., Wilson, J. F., Wild, S. H., Campbell, H., Vitart, V., Reilly, M. P., Li, M., Qu, L., Wilensky, R., Matthai, W., Hakonarson, H. H., Rader, D. J., Franke, A., Wittig, M., Schaefer, A., Uda, M., Terracciano, A., Xiao, X., Busonero, F., Scheet, P., Schlessinger, D., St Clair, D., Rujescu, D., Abecasis, G. R., Grabe, H. J., Teumer, A., Voelzke, H., Petersmann, A., John, U., Rudan, I., Hayward, C., Wright, A. F., Kolcic, I., Wright, B. J., Thompson, J. R., Balmforth, A. J., Hall, A. S., Samani, N. J., Anderson, C. A., Ahmad, T., Mathew, C. G., Parkes, M., Satsangi, J., Caulfield, M., Munroe, P. B., Farrall, M., Dominiczak, A., Worthington, J., Thomson, W., Eyre, S., Barton, A., Mooser, V., Francks, C. & Marchini, J., May 2010, In: Nature Genetics. 42, 5, p. 436 - U75 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Single Nucleotide Polymorphism 100%
  • Gene 33%
  • CHRNB4 33%
  522 Citations (Scopus)

• Mutational Characterization of the Bile Acid Receptor TGR5 in Primary Sclerosing Cholangitis

  Hov, J. R., Keitel, V., Laerdahl, J. K., Spomer, L., Ellinghaus, E., ElSharawy, A., Melum, E., Boberg, K. M., Manke, T., Balschun, T., Schramm, C., Bergquist, A., Weismueller, T., Gotthardt, D., Rust, C., Henckaerts, L., Onnie, C. M., Weersma, R. K., Sterneck, M., Teufel, A., & 16 othersRunz, H., Stiehl, A., Ponsioen, C. Y., Wijmenga, C., Vatn, M. H., Stokkers, P. C. F., Vermeire, S., Mathew, C. G., Lie, B. A., Beuers, U., Manns, M. P., Schreiber, S., Schrumpf, E., Haeussinger, D., Franke, A. & Karlsen, T. H., 2010, In: PL o S One . 5, 8, e12403.

  Research output: Contribution to journal › Article › peer-review

  • Single-Nucleotide Polymorphism 100%
  • Bile Acid 100%
  • Receptor 100%
  • Bile 100%
  • Candidate Gene 50%
  117 Citations (Scopus)

• Mutation of the RAD51C gene in a Fanconi anemia-like disorder

  Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., Fraternali, F., Freund, M., Hartmann, L., Grimwade, D., Roberts, R. G., Schaal, H., Mohammed, S., Rahman, N., Schindler, D. & Mathew, C. G., May 2010, In: Nature Genetics. 42, 5, p. 406 - 409 4 p.

  Research output: Contribution to journal › Article › peer-review

  • RAD51 100%
  • RAD51C 100%
  • Gene 100%
  • Cross-Link 33%
  • Chromosome Instability 33%
  333 Citations (Scopus)
• 2009

  Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

  Barrett, J. C., Lee, J. C., Lees, C. W., Prescott, N. J., Anderson, C. A., Phillips, A., Wesley, E., Parnell, K., Zhang, H., Drummond, H., Nimmo, E. R., Massey, D., Blaszczyk, K., Elliott, T., Cotterill, L., Dallal, H., Lobo, A. J., Mowat, C., Sanderson, J. D., Jewell, D. P., & 61 othersNewman, W. G., Edwards, C., Ahmad, T., Mansfield, J. C., Satsangi, J., Parkes, M., Mathew, C. G., Donnelly, P., Peltonen, L., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Craddock, N., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H. S., McCarthy, M. I., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Samani, N., Trembath, R. C., Viswanathan, A. C., Wood, N., Spencer, C. C. A., Bellenguez, C., Davison, D., Freeman, C., Strange, A., Langford, C., Hunt, S. E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Perez, M. L., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Attwood, A. P., Stephens, J., Sambrook, J., Ouwehand, W. H., McArdle, W. L., Ring, S. M. & Strachan, D. P., Dec 2009, In: Nature Genetics. 41, 12, p. 1330-1334 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Genome Wide Association Study 100%
  • Ulcerative Colitis 100%
  • Genotyping 25%
  • Candidate Gene 25%
  • Gene 20%
  442 Citations (Scopus)

• Investigation of Crohn's Disease Risk Loci in Ulcerative Colitis Further Defines Their Molecular Relationship

  Anderson, C. A., Massey, D. C. O., Barrett, J. C., Prescott, N. J., Tremelling, M., Fisher, S. A., Gwilliam, R., Jacob, J., Nimmo, E. R., Drummond, H., Lees, C. W., Onnie, C. M., Hanson, C., Blaszczyk, K., Ravindrarajah, R., Hunt, S., Varma, D., Hammond, N., Lewis, G., Attlesey, H., & 13 othersWatkins, N., Ouwehand, W., Strachan, D., McArdle, W., Lewis, C. M., Lobo, A., Sanderson, J., Jewell, D. P., Deloukas, P., Mansfield, J. C., Mathew, C. G., Satsangi, J. & Parkes, M., Feb 2009, In: Gastroenterology. 136, 2, p. 523 - 529 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Signal Transduction 50%
  • Single-Nucleotide Polymorphism 50%
  169 Citations (Scopus)

• Searching for Genotype-Phenotype Structure: Using Hierarchical Log-Linear Models in Crohn Disease

  Chapman, J. M., Onnie, C. M., Prescott, N. J., Fisher, S. A., Mansfield, J. C., Mathew, C. G., Lewis, C. M., Verzilli, C. J. & Whittaker, J. C., 8 Aug 2009, In: American Journal of Human Genetics. 84, 2, p. 178 - 187 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Phenotype 100%
  • Log-Linear Model 100%
  • Genotyping 100%
  • Gene 100%
  • Genotype 100%
  6 Citations (Scopus)
• 2008

  Cancer incidence in relatives of British Fanconi Anaemia patients

  Tischkowitz, M., Easton, D. F., Ball, J., Hodgson, S. V. & Mathew, C. G., 11 Sept 2008, In: BMC Cancer. 8, 257.

  Research output: Contribution to journal › Article › peer-review

  • Patient 100%
  • Fanconi Anemia 100%
  • Females 66%
  • Family 60%
  • Solid 50%
  20 Citations (Scopus)

• Diverse effects of the CARD15 and IBD5 loci on clinical phenotype in 630 patients with Crohn's disease

  Onnie, C. M., Fisher, S. A., Prescott, N. J., Mirza, M. M., Green, P., Sanderson, J., Forbes, A., Lewis, C. M. & Mathew, C. G., Jan 2008, In: European Journal of Gastroenterology and Hepatology. 20, 1, p. 37-45 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Genotyping 100%
  • Haplotype 100%
  • Genetic Divergence 100%
  • Granuloma 59%
  28 Citations (Scopus)

• FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.

  Wilson, JB., Yamamoto, K., Marriott, AS., Hussain, S., Sung, P., Hoatlin, ME., Mathew, CG., Takata, M., Thompson, LH., Kupfer, GM. & Jones, NJ., 12 Jun 2008, In: Oncogene. 27, 26, p. 3641 - 3652 12 p.

  Research output: Contribution to journal › Article › peer-review
  71 Citations (Scopus)

• Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts

  Browning, B. L., Annese, V., Barclay, M. L., Bingham, S. A., Brand, S., Buning, C., Castro, M., Cucchiara, S., Dallapiccola, B., Drummond, H., Ferguson, L. R., Ferraris, A., Fisher, S. A., Gearry, R. B., Glas, J., Henckaerts, L., Huebner, C., Knafelz, D., Lakatos, L., Lakatos, P. L., & 19 othersLatiano, A., Liu, X., Mathew, C., Muller-Myhsok, B., Newman, W. G., Nimmo, E. R., Noble, C. L., Palmieri, O., Parkes, M., Petermann, I., Rutgeerts, P., Satsangi, J., Shelling, A. N., Siminovitch, K. A., Torok, H. P., Tremelling, M., Vermeire, S., Valvano, M. R. & Witt, H., Jan 2008, In: Journal of Medical Genetics. 45, 1, p. 36 - 42 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Allele Frequency 100%
  • Genotype 50%
  47 Citations (Scopus)

• Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

  Fisher, S. A., Tremelling, M., Anderson, C. A., Gwilliam, R., Bumpstead, S., Prescott, N. J., Nimmo, E. R., Massey, D., Berzuini, C., Johnson, C., Barrett, J. C., Cummings, F. R., Drummond, H., Lees, C. W., Onnie, C. M., Hanson, C. E., Blaszczyk, K., Inouye, M., Ewels, P., Ravindrarajah, R., & 17 othersKeniry, A., Hunt, S., Carter, M., Watkins, N., Ouwehand, W., Lewis, C. M., Cardon, L., The Wellcome Trust Case Control Consortium, Lobo, A., Forbes, A., Sanderson, J., Jewell, D. P., Mansfield, J. C., Deloukas, P., Mathew, C. G., Parkes, M. & Satsangi, J., Jun 2008, In: Nature Genetics. 40, 6, p. 710-712 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Genetics 100%
  • Single Nucleotide Polymorphism 100%
  • NOD2 100%
  • ATG16L1 100%
  • IRGM 100%
  379 Citations (Scopus)

• Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

  Barrett, J. C., Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., Silverberg, M. S., Taylor, K. D., Barmada, M. M., Bitton, A., Dassopoulos, T., Datta, L. W., Green, T., Griffiths, A. M., Kistner, E. O., Murtha, M. T., Regueiro, M. D., Rotter, J. I., Schumm, L. P., & 41 othersSteinhart, A. H., Targan, S. R., Xavier, R. J., Libioulle, C., Sandor, C., Lathrop, M., Belaiche, J., Dewit, O., Gut, I., Heath, S., Laukens, D., Mni, M., Rutgeerts, P., Van Gossum, A., Zelenika, D., Franchimont, D., Hugot, J. P., de Vos, M., Vermeire, S., Louis, E., Cardon, L. R., Anderson, C. A., Drummond, H., Nimmo, E., Ahmad, T., Prescott, N. J., Onnie, C. M., Fisher, S. A., Marchini, J., Ghori, J., Bumpstead, S., Gwilliam, R., Tremelling, M., Deloukas, P., Mansfield, J., Jewell, D., Satsangi, J., Mathew, C. G., Parkes, M., Georges, M. & Daly, M. J., Aug 2008, In: Nature Genetics. 40, 8, p. 955 - 962 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene Discovery 100%
  2247 Citations (Scopus)

• Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation

  Bagnall, R. D., Roberts, R. G., Mirza, M. M., Torigoe, T., Prescott, N. J. & Mathew, C. G., May 2008, In: European Journal of Human Genetics. 16, 5, p. 619 - 625 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Isoform 100%
  • Gene 100%
  • Single Nucleotide Polymorphism 33%
  • Protein Isoform 33%
  • Stop Codon 33%
  41 Citations (Scopus)

• Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease

  Wolf, N., Quaranta, M., Prescott, N. J., Allen, M., Smith, R., Burden, A. D., Worthington, J., Griffiths, C. E. M., Mathew, C. G., Barker, J. N., Capon, F. & Trembath, R. C., Feb 2008, In: Journal of Medical Genetics. 45, 2, p. 114 - 116 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Major Histocompatibility Complex 66%
  • Genetics 33%
  • Linkage Analysis 33%
  • Genome Wide Association Study 33%
  151 Citations (Scopus)

• Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

  Franke, A., Balschun, T., Karlsen, T. H., Sventoraityte, J., Nikolaus, S., Mayr, G., Domingues, F. S., Albrecht, M., Nothnagel, M., Ellinghaus, D., Sina, C., Onnie, C. M., Weersma, R. K., Stokkers, P. C. F., Wijmenga, C., Gazouli, M., Strachan, D., McArdle, W. L., Vermeire, S., Rutgeerts, P., & 5 othersRosenstiel, P., Krawczak, M., Vatn, M. H., Mathew, C. G. & Schreiber, S., Nov 2008, In: Nature Genetics. 40, 11, p. 1319 - 1323 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Single Nucleotide Polymorphism 100%
  • Gene 66%
  • Genetic Architecture 33%
  • BTNL2 33%
  513 Citations (Scopus)
• 2007

  A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

  Hampe, J., Franke, A., Rosenstiel, P., Till, A., Teuber, M., Huse, K., Albrecht, M., Mayr, G., De La Vega, F. M., Briggs, J., Gunther, S., Prescott, N. J., Onnie, C. M., Hasler, R., Sipos, B., Folsch, U. R., Lengauer, T., Platzer, M., Mathew, C. G., Krawczak, M., & 1 othersSchreiber, S., Feb 2007, In: Nature Genetics. 39, 2, p. 207 - 211 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Single Nucleotide Polymorphism 100%
  • ATG16L1 100%
  1615 Citations (Scopus)

• A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and 1BD5

  Prescott, N. J., Fisher, S. A., Franke, A., Hampe, J., Onnie, C. M., Soars, D., Bagnall, R., Mirza, M. M., Sanderson, J., Forbes, A., Mansfield, J. C., Lewis, C. M., Schreiber, S. & Mathew, C. G., May 2007, In: Gastroenterology. 132, 5, p. 1665 - 1671 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Single Nucleotide Polymorphism 100%
  • ATG16L1 100%
  • Genotyping 28%
  • Gene Polymorphism 14%
  • Gene 14%
  259 Citations (Scopus)

• Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

  Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., Wurm, M., Batish, S. D., Lach, F. P., Yetgin, S., Neitzel, H., Ariffin, H., Tischkowitz, M., Mathew, C. G., Auerbach, D. & Rahman, N., Feb 2007, In: Nature Genetics. 39, 2, p. 162 - 164 3 p.

  Research output: Contribution to journal › Article › peer-review

  • PALB2 100%
  525 Citations (Scopus)

• Functional characterization of two novel 5 ' untranslated exons reveals a complex regulation of NOD2 protein expression

  Rosenstiel, P., Huse, K., Franke, A., Hampe, J., Reichwald, K., Platzer, C., Roberts, R. G., Mathew, C. G., Platzer, M. & Schreiber, S., 20 Dec 2007, In: BMC GENOMICS. 8, 472.

  Research output: Contribution to journal › Article › peer-review

  • Exon 100%
  • NOD2 100%
  • Upstream Open Reading Frame 33%
  • Gene 33%
  • Isoform 22%
  26 Citations (Scopus)

• Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

  The Wellcome Trust Case Control Consortium, 7 Jun 2007, In: Nature. 447, 7145, p. 661 - 678 18 p.

  Research output: Contribution to journal › Article › peer-review

  • Disease 100%
  • Genome Wide Association Study 100%
  • Genotyping 33%
  • Human Genetics 33%
  • Gene 33%
  8081 Citations (Scopus)

• Identification, evolution and association studies of a novel promoter and first exon of the human NOD2 (CARD15) gene.

  King, K., Bagnall, R., Fisher, SA., Sheikh, F., Cuthbert, A., Tan, S., Mundy, NI., Rosenstiel, P., Schreiber, S., Mathew, CG. & Roberts, RG., Oct 2007, In: Genomics. 90, 4, p. 493 - 501 9 p.

  Research output: Contribution to journal › Article › peer-review
  8 Citations (Scopus)

• Identification of a Fanconi anemia complementation group I gene, FANCI.

  Dorsman, JC., Levitus, M., Rockx, D., Rooimans, MA., Oostra, AB., Haitjema, A., Bakker, ST., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Laps, G., Mathew, CG., Waisfisz, Q., de Winter, JP. & Joenje, H., 2007, In: CELLULAR ONCOLOGY. 29, 3, p. 211 - 218 8 p.

  Research output: Contribution to journal › Article › peer-review

  116 Citations (Scopus)

• IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease

  Tremelling, M., Cummings, F., Fisher, S. A., Mansfield, J., Gwilliam, R., Keniry, A., Nimmo, E. R., Drummond, H., Onnie, C. M., Prescott, N. J., Sanderson, J., Bredin, F., Berzuini, C., Forbes, A., Lewis, C. M., Cardon, L., Deloukas, P., Jewell, D., Mathew, C. G., Parkes, M., & 1 othersSatsangi, J., May 2007, In: Gastroenterology. 132, 5, p. 1657 - 1664 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Allele Frequency 100%
  • Gene 93%
  • Genetic Disorder 31%
  166 Citations (Scopus)

• Investigation of association of the DLG5 gene with phenotypes of inflammatory bowel disease in the British population

  Pearce, A. V., Fisher, S. A., Prescott, N. J., Onnie, C. M., Pattni, R., Green, P. M., Forbes, A., Mansfield, J., Sanderson, J., Schreiber, S., Lewis, C. M. & Mathew, C. G., Apr 2007, In: International Journal of Colorectal Disease. 22, 4, p. 419 - 424 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Genotyping 25%
  11 Citations (Scopus)

• Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

  Zeggini, E., Weedon, MN., Lindgren, CM., Frayling, TM., Elliott, KS., Lango, H., Timpson, NJ., Perry, JR., Rayner, NW., Freathy, RM., Barrett, JC., Shields, B., Morris, AP., Ellard, S., Groves, CJ., Harries, LW., Marchini, JL., Owen, KR., Knight, B., Cardon, LR., & 12 othersWalker, M., Hitman, GA., Morris, AD., Doney, AS., Wellcome Trust Case Control Consortium (WTCCC), McCarthy, MI., Hattersley, AT., Fisher, SA., Lewis, CM., Onnie, CM., Prescott, NJ. & Mathew, CG., 1 Jun 2007, In: Science. 316, 5829, p. 1336 - 1341 6 p.

  Research output: Contribution to journal › Article › peer-review
  1871 Citations (Scopus)

• Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

  Parkes, M., Barrett, J. C., Prescott, N. J., Tremelling, M., Anderson, C. A., Fisher, S. A., Roberts, R. G., Nimmo, E. R., Cummings, F. R., Soars, D., Drummond, H., Lees, C. W., Khawaja, S. A., Bagnall, R., Burke, D. A., Todhunter, C. E., Ahmad, T., Onnie, C. M., McArdle, W., Strachan, D., & 11 othersBethel, G., Bryan, C., Lewis, C. M., Deloukas, P., Forbes, A., Sanderson, J., Jewell, D. P., Satsangi, J., Mansfield, J. C., Cardon, L. & Mathew, C. G., Jul 2007, In: Nature Genetics. 39, 7, p. 830 - 832 3 p.

  Research output: Contribution to journal › Article › peer-review

  • IRGM 100%
  • Gene 100%
  • Single Nucleotide Polymorphism 33%
  • PTPN2 33%
  1004 Citations (Scopus)

• Systematic association mapping identifies NELL1 as a novel IBD disease gene.

  Franke, A., Hampe, J., Rosenstiel, P., Becker, C., Wagner, F., Hasler, R., Little, RD., Huse, K., Ruether, A., Balschun, T., Wittig, M., ElSharawy, A., Mayr, G., Albrecht, M., Prescott, NJ., Onnie, CM., Fournier, H., Keith, T., Radelof, U., Platzer, M., & 5 othersMathew, CG., Stoll, M., Krawczak, M., Nurnberg, P. & Schreiber, S., 8 Aug 2007, In: PL o S One . 2, 1, e691.

  Research output: Contribution to journal › Article › peer-review
  118 Citations (Scopus)
• 2006

  Associations of allelic variants of the multidrug resistance gene (ABCB1 or MDR1) and inflammatory bowel disease and their effects on disease behavior: A case-control and meta-analysis study

  Onnie, C. M., Fisher, S. A., Pattni, R., Sanderson, J., Forbes, A., Lewis, C. M. & Mathew, C. G., Apr 2006, In: Inflammatory Bowel Diseases. 12, 4, p. 263 - 271 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Behavior (Neuroscience) 100%
  • Membrane 16%
  • Genotyping 16%
  • Genotype 16%
  77 Citations (Scopus)

• Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease

  van Heel, D. A., Hunt, K. A., King, K., Ghosh, S., Gabe, S. M., Mathew, C. G., Forbes, A. & Playford, R. J., 2006, In: Inflammatory Bowel Diseases. 12, 7, p. 598 - 605 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Patient with Crohn's Disease 100%
  • NOD2 60%
  • Assay 50%
  • Interleukin 8 30%
  • Diagnosis 20%
  20 Citations (Scopus)

• Direct or indirect association in a complex disease: The role of SLC22A4 and SLC22A5 functional variants in Crohn disease

  Fisher, S. A., Hampe, J., Onnie, C. M., Daly, M. J., Curley, C., Purcell, S., Sanderson, J., Mansfield, J., Annese, V., Forbes, A., Lewis, C. M., Schreiber, S., Rioux, J. D. & Mathew, C. G., Aug 2006, In: Human Mutation. 27, 8, p. 778 - 785 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Haplotype 100%
  • SLC22A4 100%
  • Single Nucleotide Polymorphism 20%
  • Linkage Disequilibrium 20%
  • Gene 10%
  46 Citations (Scopus)

• Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease

  Zheng, W., Rosenstiel, P., Huse, K., Sina, C., Valentonyte, R., Mah, N., Zeitlmann, L., Grosse, J., Ruf, N., Nurnberg, P., Costello, C. M., Onnie, C., Mathew, C., Platzer, M., Schreiber, S. & Hampe, J., Jan 2006, In: GENES AND IMMUNITY. 7, 1, p. 11 - 18 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Single-Nucleotide Polymorphism 100%
  • Candidate Gene 100%
  • Gene 100%
  • Protein 50%
  • Haplotype 50%
  108 Citations (Scopus)

• Genetic variation in myosin IXB is associated with ulcerative colitis

  Van Bodegraven, A. A., Curley, C. R., Hunt, K. A., Monsuur, A. J., Linskens, R. K., Onnie, C. M., Crusius, J. B. A., Annese, V., Latiano, A., Silverberg, M. S., Bitton, A., Fisher, S. A., Steinhart, A. H., Forbes, A., Sanderson, J., Prescott, N. J., Strachan, D. P., Playford, R. J., Mathew, C. G., Wijmenga, C., & 3 othersDaly, M. J., Rioux, J. D. & van Heel, D. A., Dec 2006, In: Gastroenterology. 131, 6, p. 1768 - 1774 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Single-Nucleotide Polymorphism 100%
  • Genetic Divergence 100%
  • Haplotype 33%
  • Germline 33%
  • Amino Acids 33%
  93 Citations (Scopus)

• Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.

  King, K., Sheikh, M. E., Cuthbert, A. P., Fisher, S. A., Onnie, C. M., Mirza, M. M., Pattni, R. C., Sanderson, J., Forbes, A., Mansfield, J., Lewis, C. M., Roberts, R. G. & Mathew, C. G., Jan 2006, In: Human Mutation. 27, 1, p. 44 - 54 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Gene Dosage 50%
  • Genetics 25%
  • Protein 25%
  • Genotyping 25%
  30 Citations (Scopus)

• Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease

  Reid, E. P., Forbes, A., Sanderson, J., Mathew, C. G., Lewis, C. & Marteau, T. M., Dec 2006, In: European Journal of Human Genetics. 14, 12, p. 1263 - 1268 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Proband 100%
  4 Citations (Scopus)

• Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31

  Onnie, C., Fisher, S. A., King, K., Mirza, M., Roberts, R., Forbes, A., Sanderson, J., Lewis, C. M. & Mathew, C. G., Jul 2006, In: GENES AND IMMUNITY. 7, 5, p. 359 - 365 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Single-Nucleotide Polymorphism 83%
  • Genetics 16%
  • IRF1 16%
  • SLC22A5 16%
  24 Citations (Scopus)

• Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2

  Hussain, S., Wilson, J. B., Blom, E., Thompson, L. H., Sung, P., Gordon, S. M., Kupfer, G. M., Joenje, H., Mathew, C. G. & Jones, N. J., 10 May 2006, In: DNA REPAIR. 5, 5, p. 629 - 640 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Protein 100%
  • FANCG 100%
  • XRCC3 100%
  • Tetratricopeptide 100%
  • FANCD2 27%
  41 Citations (Scopus)
• 2005

  A common Fanconi anemia mutation in black populations of sub-Saharan Africa

  Morgan, N. V., Essop, F., Demuth, I., de Ravel, T., Jansen, S., Tischkowitz, M., Lewis, C. M., Wainwright, L., Poole, J., Joenje, H., Digweed, M., Krause, A. & Mathew, C. G., 1 May 2005, In: Blood. 105, 9, p. 3542 - 3544 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Black Population 100%
  • Fanconi Anemia 100%
  • FANCG 100%
  • Patient 50%
  • Speech 50%
  46 Citations (Scopus)

• A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

  Callen, E., Casado, J. A., Tischkowitz, M. D., Bueren, J. A., Creus, A., Marcos, R., Dasi, A., Estella, J. M., Munoz, A., Ortega, J. J., de Winter, J., Joenje, H., Schindler, D., Hanenberg, H., Hodgson, S. V., Mathew, C. G. & Surralles, J., 1 Mar 2005, In: Blood. 105, 5, p. 1946 - 1949 4 p.

  Research output: Contribution to journal › Article › peer-review

  • FANCA 100%
  • Haplotype 40%
  • Genetic Disorder 20%
  • Heterozygote 20%
  • Genetic Carrier 20%
  79 Citations (Scopus)

• A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population.

  Prescott, N. J., Fisher, S. A., Onnie, C., Pattni, R., Steer, S., Sanderson, J., Forbes, A., Lewis, C. M. & Mathew, C. G., Oct 2005, In: Tissue Antigens. 66, 4, p. 318 - 320 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Autoimmunity 100%
  • Systemic Lupus Erythematosus 25%
  • Inflammatory Arthritis 25%
  • Hashimoto's Thyroiditis 25%
  27 Citations (Scopus)

• Association of DLG5 R30Q variant with inflammatory bowel disease.

  Daly, M., Pearce, A. V., Farwell, L., Fisher, S. A., Latiano, A., Prescott, N. J., Forbes, A., Mansfield, J., Sanderson, J., Langelier, D., Cohen, A., Bitton, A., Wild, G., Lewis, C. M., Annese, V., Mathew, C. G. & Rioux, J. D., Jul 2005, In: European Journal of Human Genetics. 13, 7, p. 835 - 839 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Genetic Divergence 100%
  • Control 66%
  • Replicate 66%
  • Haplotype 50%
  • Gene 50%
  72 Citations (Scopus)

• Nijmegen breakage syndrome diagnosed as Fanconi anaemia

  New, H. V., Cale, C. M., Tischkowitz, M., Jones, A., Telfer, P., Veys, P., D'Andrea, A., Mathew, C. G. & Hann, I., May 2005, In: PEDIATRIC BLOOD AND CANCER. 44, 5, p. 494 - 499 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Fanconi Anemia 100%
  • Gene 60%
  • Bone Marrow Transplantation 40%
  • Child 33%
  • Family 33%
  27 Citations (Scopus)

• Should chromosome breakage studies be performed in patients with VACTERL association?

  Faivre, L., France Portnoi, M., Pals, G., Stoppa-Lyonnet, D., Le Merrer, M., Thauvin-Robinet, C., Huet, F., Mathew, C. G., Joenje, H., Verloes, A. & Baumann, C., 15 Aug 2005, In: American Journal of Medical Genetics. Part A. 137A, 1, p. 55 - 58 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Spectrum 100%
  • Genetic Counseling 100%
  • Tracheoesophageal Fistula 100%
  74 Citations (Scopus)

• Synergy between TLR9 and NOD2 innate immune responses is lost in genetic Crohn's disease.

  van Heel, D. A., Ghosh, S., Hunt, K. A., Mathew, C. G., Forbes, A., Jewell, D. P. & Playford, R. J., Nov 2005, In: Gut. 54, 11, p. 1553 - 1557 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Genetics 100%
  • Oligomerization 100%
  • Wild Type 25%
  • Genotype 8%
  • Human Cell 8%
  115 Citations (Scopus)

• The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

  Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, M. Z., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., de Winter, J. P. & Joenje, H., Sept 2005, In: Nature Genetics. 37, 9, p. 934 - 935 2 p.

  Research output: Contribution to journal › Article › peer-review

  • Helicase 100%
  • BRIP1 100%
  • Protein 50%
  • Gene 50%
  • Interactions with DNA 50%
  387 Citations (Scopus)
• 2004

  Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

  Tischkowitz, M. D., Morgan, N. V., Grimwade, D., Eddy, C., Ball, S., Vorechovsky, I., Langabeer, S., Stoger, R., Hodgson, S. V. & Mathew, C. G., Mar 2004, In: Leukemia. 18, 3, p. 420 - 425 6 p.

  Research output: Contribution to journal › Article › peer-review

  • FANCA 100%
  • Gene 100%
  • Germline 16%
  • Chromosome Instability 16%
  68 Citations (Scopus)

• Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways

  Hussain, S., Wilson, J. B., Medhurst, A. L., Hejna, J., Witt, E., Ananth, S., Davies, A., Masson, J. Y., Moses, R., West, S. C., de Winter, J. P., Ashworth, A., Jones, N. J. & Mathew, C. G., 15 Jun 2004, In: Human Molecular Genetics. 13, 12, p. 1241 - 1248 8 p.

  Research output: Contribution to journal › Article › peer-review

  • FANCD2 100%
  • Yeast 50%
  • Protein 30%
  • RAD51 30%
  • Yeast Two-Hybrid Screening 10%
  181 Citations (Scopus)

• Genetic variation in DLG5 is associated with inflammatory bowel disease

  Stoll, M., Corneliussen, B., Costello, C. M., Waetzig, G. H., Mellgard, B., Koch, W. A., Rosenstiel, P., Albrecht, M., Croucher, P. J. P., Seegert, D., Nikolaus, S., Hampe, J., Lengauer, T., Pierrou, S., Foelsch, U. R., Mathew, C. G., Lagerstrom-Fermer, M. & Schreiber, S., May 2004, In: Nature Genetics. 36, 5, p. 476 - 480 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Haplotype 100%
  • Genetic Divergence 100%
  • Gene 66%
  • Single-Nucleotide Polymorphism 33%
  • Gene-Environment Interaction 33%
  422 Citations (Scopus)