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Research

Publications: Prof David van Heel

Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N et al. ( 2020 ) . Genetic mechanisms of critical illness in COVID-19 . Nature vol. 591 , ( 7848 ) 92 - 98 .
Severe Covid-19 GWAS Group, Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, Fernández J et al. ( 2020 ) . Genomewide Association Study of Severe Covid-19 with Respiratory Failure . N Engl J Med vol. 383 , ( 16 ) 1522 - 1534 .
Sharp SA, Jones SE, Kimmitt RA, Weedon MN, Halpin AM, Wood AR, Beaumont RN, King S et al. ( 2020 ) . A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care . Alimentary Pharmacology and Therapeutics vol. 52 , ( 7 ) 1165 - 1173 .
Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T et al. ( 2020 ) . Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations . Cell vol. 182 , ( 5 ) 1198 - 1213.e14 .
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC et al. ( 2020 ) . Evaluating drug targets through human loss-of-function genetic variation . Nature vol. 581 , ( 7809 ) 459 - 464 .
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V et al. ( 2020 ) . A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome . Genetics in Medicine vol. 22 , ( 5 ) 867 - 877 .
McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR et al. ( 2020 ) . Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria . eLife vol. 9 ,
Finer S, Martin HC, Khan A, Hunt KA, Maclaughlin B, Ahmed Z, Ashcroft R, Durham C et al. ( 2020 ) . Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people . International Journal of Epidemiology vol. 49 , ( 1 ) 20 - 21I .
Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK et al. ( 2019 ) . Associations of autozygosity with a broad range of human phenotypes . Nature Communications vol. 10 , ( 1 ) 4957 - 4957 .
Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B et al. ( 2018 ) . Identification of rare sequence variation underlying heritable pulmonary arterial hypertension . Nature Communications vol. 9 , ( 1 )
KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N, VAN HEEL DA ( 2018 ) . Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes . Journal of Investigative Dermatology
VAN HEEL DA ( 2018 ) . Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference . Nature Communications
Narasimhan VM, Rahbari R, Scally A, Wuster A, Mason D, Xue Y, Wright J, Trembath RC et al. ( 2017 ) . Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes . Nature Communications vol. 8 , ( 1 )
Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH et al. ( 2017 ) . Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study . JAMA Oncol vol. 3 , ( 5 ) 636 - 651 .
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R et al. ( 2016 ) . DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation . American Journal of Human Genetics vol. 99 , ( 1 ) 115 - 124 .
Prins BP, Abbasi A, Wong A, Vaez A, Nolte I, Franceschini N, Stuart PE, Guterriez Achury J et al. ( 2016 ) . Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study . PLOS Medicine vol. 13 , ( 6 ) e1001976 - e1001976 .
Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C et al. ( 2016 ) . Health and population effects of rare gene knockouts in adult humans with related parents . Science vol. 352 , ( 6284 ) 474 - 477 .
Lenz TL, Deutsch AJ, Han B, Hu X, Okada Y, Eyre S, Knapp M, Zhernakova A et al. ( 2015 ) . Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases . Nature Genetics vol. 47 , ( 9 ) 1085 - 1090 .
Lenz TL, Deutsch AJ, Han B, Hu X, Okada Y, Eyre S, Knapp M, Zhernakova A et al. ( 2015 ) . Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases . Nature Genetics
Gutierrez-Achury J, Zhernakova A, Pulit SL, Trynka G, Hunt KA, Romanos J, Raychaudhuri S, Van Heel DA et al. ( 2015 ) . Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease . Nature Genetics vol. 47 , ( 6 ) 577 - 578 .
Mistry V, Bockett NA, Levine AP, Mirza MM, Hunt KA, Ciclitira PJ, Hummerich H, Neuhausen SL et al. ( 2015 ) . Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up . PLoS ONE vol. 10 , ( 1 )
Heap GA, Weedon MN, Bewshea CM, Singh A, Chen M, Satchwell JB, Vivian JP, So K et al. ( 2014 ) . HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants . Nat Genet vol. 46 , ( 10 ) 1131 - 1134 .
Heap GA, Weedon MN, Bewshea CM, Singh A, Chen M, Satchwell JB, Vivian JP, So K et al. ( 2014 ) . HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants . Nature Genetics vol. 46 , ( 10 ) 1131 - 1134 .
Conte I, Merella S, Garcia-Manteiga JM, Migliore C, Lazarevic D, Carrella S, Marco-Ferreres R, Avellino R et al. ( 2014 ) . The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance . Nucleic Acids Res vol. 42 , ( 12 ) 7793 - 7806 .
Romanos J, Rosén A, Kumar V, Trynka G, Franke L, Szperl A, Gutierrez-Achury J, van Diemen CC et al. ( 2014 ) . Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants . Gut vol. 63 , ( 3 ) 415 - 422 .
Ludvigsson JF, Bai JC, Biagi F, Card TR, Ciacci C, Ciclitira PJ, Green PHR, Hadjivassiliou M et al. ( 2014 ) . Diagnosis and management of adult coeliac disease: Guidelines from the British society of gastroenterology . Gut vol. 63 , ( 8 ) 1210 - 1228 .
Parkes M, Cortes A, Van Heel DA, Brown MA ( 2013 ) . Genetic insights into common pathways and complex relationships among immune-mediated diseases . Nature Reviews Genetics vol. 14 , ( 9 ) 661 - 673 .
Parkes M, Cortes A, van Heel DA, Brown MA ( 2013 ) . Genetic insights into common pathways and complex relationships among immune-mediated diseases . Nat Rev Genet vol. 14 , ( 9 ) 661 - 673 .
Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H et al. ( 2013 ) . Negligible impact of rare autoimmune-locus coding-region variants on missing heritability . Nature vol. 498 , ( 7453 ) 232 - 235 .
Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM, Doncheva NT, Andreassen OA, Weersma RK et al. ( 2013 ) . Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis . Nat Genet vol. 45 , ( 6 ) 670 - 675 .
Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H et al. ( 2013 ) . Negligible impact of rare autoimmune-locus coding-region variants on missing heritability . Nature vol. 498 , ( 7453 ) 232 - 235 .
Fu J, Wolfs MGM, Deelen P, Westra H-J, Fehrmann RSN, Te Meerman GJ, Buurman WA, Rensen SSM et al. ( 2012 ) . Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression . PLoS Genet vol. 8 , ( 1 )
Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC et al. ( 2011 ) . Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry . Nat Genet vol. 44 , ( 1 ) 3 - 5 .
Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT et al. ( 2011 ) . Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease . Nat Genet vol. 43 , ( 12 ) 1193 - 1201 .
Nanty L, Carbajosa G, Heap GA, Ratnieks F, van Heel DA, Down TA, Rakyan VK ( 2011 ) . Comparative methylomics reveals gene-body H3K36me3 in Drosophila predicts DNA methylation and CpG landscapes in other invertebrates . Genome Res vol. 21 , ( 11 ) 1841 - 1850 .
Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F et al. ( 2011 ) . Inflammatory skin and bowel disease linked to ADAM17 deletion . N Engl J Med vol. 365 , ( 16 ) 1502 - 1508 .
Blaydon DC, Nitoiu D, Eckl K-M, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S et al. ( 2011 ) . Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion . Am J Hum Genet vol. 89 , ( 4 ) 564 - 571 .
Westra H-J, Jansen RC, Fehrmann RSN, te Meerman GJ, van Heel D, Wijmenga C, Franke L ( 2011 ) . MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects . Bioinformatics vol. 27 , ( 15 ) 2104 - 2111 .
Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC et al. ( 2011 ) . Pervasive sharing of genetic effects in autoimmune disease . PLoS Genet vol. 7 , ( 8 )
Fehrmann RSN, Jansen RC, Veldink JH, Westra H-J, Arends D, Bonder MJ, Fu J, Deelen P et al. ( 2011 ) . Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA . PLoS Genet vol. 7 , ( 8 )
Billmann-Born S, Till A, Arlt A, Lipinski S, Sina C, Latiano A, Annese V, Häsler R et al. ( 2011 ) . Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC . J Immunol vol. 186 , ( 7 ) 4027 - 4038 .
Festen EAM, Goyette P, Green T, Boucher G, Beauchamp C, Trynka G, Dubois PC, Lagacé C et al. ( 2011 ) . A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease . PLoS Genet vol. 7 , ( 1 )
Trynka G, Wijmenga C, van Heel DA ( 2010 ) . A genetic perspective on coeliac disease . Trends Mol Med vol. 16 , ( 11 ) 537 - 550 .
Tye-Din JA, Stewart JA, Dromey JA, Beissbarth T, van Heel DA, Tatham A, Henderson K, Mannering SI et al. ( 2010 ) . Comprehensive, quantitative mapping of T cell epitopes in gluten in celiac disease . Sci Transl Med vol. 2 , ( 41 )
Zhernakova A, Elbers CC, Ferwerda B, Romanos J, Trynka G, Dubois PC, de Kovel CGF, Franke L et al. ( 2010 ) . Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection . Am J Hum Genet vol. 86 , ( 6 ) 970 - 977 .
Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al. ( 2010 ) . Multiple common variants for celiac disease influencing immune gene expression . Nat Genet vol. 42 , ( 4 ) 295 - 302 .
Heap GA, Yang JHM, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC et al. ( 2010 ) . Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing . Hum Mol Genet vol. 19 , ( 1 ) 122 - 134 .
Heap GA, van Heel DA ( 2009 ) . Genetics and pathogenesis of coeliac disease . Semin Immunol vol. 21 , ( 6 ) 346 - 354 .
Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B et al. ( 2009 ) . A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium . Nat Genet vol. 41 , ( 11 ) 1182 - 1190 .
Coenen MJH, Trynka G, Heskamp S, Franke B, van Diemen CC, Smolonska J, van Leeuwen M, Brouwer E et al. ( 2009 ) . Common and different genetic background for rheumatoid arthritis and coeliac disease . Hum Mol Genet vol. 18 , ( 21 ) 4195 - 4203 .
Garner CP, Murray JA, Ding YC, Tien Z, van Heel DA, Neuhausen SL ( 2009 ) . Replication of celiac disease UK genome-wide association study results in a US population . Hum Mol Genet vol. 18 , ( 21 ) 4219 - 4225 .
Romanos J, van Diemen CC, Nolte IM, Trynka G, Zhernakova A, Fu J, Bardella MT, Barisani D et al. ( 2009 ) . Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease . Gastroenterology vol. 137 , ( 3 ) 834 - 840.e3 .
Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA et al. ( 2009 ) . Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling . Gut vol. 58 , ( 8 ) 1078 - 1083 .
Heap GA, van Heel DA ( 2009 ) . The genetics of chronic inflammatory diseases . Hum Mol Genet vol. 18 , ( R1 ) R101 - R106 .
Hunt KA, van Heel DA ( 2009 ) . Recent advances in coeliac disease genetics . Gut vol. 58 , ( 4 ) 473 - 476 .
Koskinen LLE, Einarsdottir E, Dukes E, Heap GAR, Dubois P, Korponay-Szabo IR, Kaukinen K, Kurppa K et al. ( 2009 ) . Association study of the IL18RAP locus in three European populations with coeliac disease . Hum Mol Genet vol. 18 , ( 6 ) 1148 - 1155 .
Dubois P, Hunt K, van Heel D ( 2009 ) . Sex differences in HLA DQ in celiac disease . Am J Gastroenterol vol. 104 , ( 3 )
Heap GA, Trynka G, Jansen RC, Bruinenberg M, Swertz MA, Dinesen LC, Hunt KA, Wijmenga C et al. ( 2009 ) . Complex nature of SNP genotype effects on gene expression in primary human leucocytes . BMC Med Genomics vol. 2 ,
Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JHM, Howson JMM, Stevens H et al. ( 2008 ) . Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease . NEW ENGL J MED vol. 359 , ( 26 ) 2767 - 2777 .
Dubois PC, van Heel DA ( 2008 ) . Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease . Clin Exp Immunol vol. 153 , ( 2 ) 162 - 173 .
Adamovic S, Amundsen SS, Lie BA, Gudjónsdóttir AH, Ascher H, Ek J, van Heel DA, Nilsson S et al. ( 2008 ) . Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families . Genes Immun vol. 9 , ( 4 ) 364 - 367 .
Franke L, de Kovel CGF, Aulchenko YS, Trynka G, Zhernakova A, Hunt KA, Blauw HM, van den Berg LH et al. ( 2008 ) . Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays . Am J Hum Genet vol. 82 , ( 6 ) 1316 - 1333 .
Dubois PC, van Heel DA ( 2008 ) . New susceptibility genes for ulcerative colitis . NAT GENET vol. 40 , ( 6 ) 686 - 688 .
Monsuur AJ, de Bakker PIW, Zhernakova A, Pinto D, Verduijn W, Romanos J, Auricchio R, Lopez A et al. ( 2008 ) . Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms . PLoS One vol. 3 , ( 5 )
Zhernakova A, Festen EM, Franke L, Trynka G, van Diemen CC, Monsuur AJ, Bevova M, Nijmeijer RM et al. ( 2008 ) . Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP . Am J Hum Genet vol. 82 , ( 5 ) 1202 - 1210 .
Hunt KA, Franke L, Deloukas P, Wjmenga C, Van Heel DA ( 2008 ) . No evidence in a large UK collection for celiac disease risk variants reported by a Spanish study . GASTROENTEROLOGY vol. 134 , ( 5 ) 1629 - 1630 .
Wapenaar MC, Monsuur AJ, van Bodegraven AA, Weersma RK, Bevova MR, Linskens RK, Howdle P, Holmes G et al. ( 2008 ) . Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis . Gut vol. 57 , ( 4 ) 463 - 467 .
Hunt KA, Zhernakova A, Turner G, Heap GAR, Franke L, Bruinenberg M, Romanos J, Dinesen LC et al. ( 2008 ) . Newly identified genetic risk variants for celiac disease related to the immune response . Nat Genet vol. 40 , ( 4 ) 395 - 402 .
Butler M, Chaudhary R, van Heel DA, Playford RJ, Ghosh S ( 2007 ) . NOD2 activity modulates the phenotype of LPS-stimulated dendritic cells to promote the development of T-helper type 2-like lymphocytes - Possible implications for NOD2-associated Crohn's disease . J CROHNS COLITIS vol. 1 , ( 2 ) 106 - 115 .
Zhernakova A, Alizadeh BZ, Bevova M, van Leeuwen MA, Coenen MJH, Franke B, Franke L, Posthumus MD et al. ( 2007 ) . Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases . Am J Hum Genet vol. 81 , ( 6 ) 1284 - 1288 .
Marchbank T, Mahmood A, Fitzgerald AJ, Domin J, Butler M, Goodlad RA, Elia G, Cox HM et al. ( 2007 ) . Human pancreatic secretory trypsin inhibitor stabilizes intestinal mucosa against noxious agents . Am J Pathol vol. 171 , ( 5 ) 1462 - 1473 .
van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar MC, Barnardo MCNM et al. ( 2007 ) . A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 . Nat Genet vol. 39 , ( 7 ) 827 - 829 .
Henderson KN, Tye-Din JA, Reid HH, Chen Z, Borg NA, Beissbarth T, Tatham A, Mannering SI et al. ( 2007 ) . A structural and immunological basis for the role of human leukocyte antigen DQ8 in celiac disease . Immunity vol. 27 , ( 1 ) 23 - 34 .
Cartwright N, Murch O, McMaster SK, Paul-Clark MJ, van Heel DA, Ryffel B, Quesniaux VFJ, Evans TW et al. ( 2007 ) . Selective NOD1 agonists cause shock and organ injury/dysfunction in vivo . AM J RESP CRIT CARE vol. 175 , ( 6 ) 595 - 603 .
van Bodegraven AA, Curley CR, Hunt KA, Monsuur AJ, Linskens RK, Onnie CM, Crusius JBA, Annese V et al. ( 2006 ) . Genetic variation in myosin IXB is associated with ulcerative colitis . Gastroenterology vol. 131 , ( 6 ) 1768 - 1774 .
Walters JRF, Balesaria S, Chavele K-M, Taylor V, Berry JL, Khair U, Barley NF, van Heel DA et al. ( 2006 ) . Calcium channel TRPV6 expression in human duodenum: different relationships to the vitamin D system and aging in men and women . J Bone Miner Res vol. 21 , ( 11 ) 1770 - 1777 .
McGovern DPB, Butler H, Ahmad T, Paolucci M, van Heel DA, Negoro K, Hysi P, Ragoussis J et al. ( 2006 ) . TUCAN (CARD8) genetic variants and inflammatory bowel disease . Gastroenterology vol. 131 , ( 4 ) 1190 - 1196 .
van Heel DA, Playford RJ ( 2006 ) . To the editor - Response . EUR J IMMUNOL vol. 36 , ( 10 ) 2818 - 2819 .
van Heel DA, Hunt KA, King K, Ghosh S, Gabe SM, Mathew CG, Forbes A, Playford RJ ( 2006 ) . Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease . Inflamm Bowel Dis vol. 12 , ( 7 ) 598 - 605 .
Hunt KA, Monsuur AJ, McArdle WL, Kumar PJ, Travis SPL, Walters JRF, Jewell DP, Strachan DP et al. ( 2006 ) . Lack of association of MYO9B genetic variants with coeliac disease in a British cohort . Gut vol. 55 , ( 7 ) 969 - 972 .
van Heel DA, West J ( 2006 ) . Recent advances in coeliac disease . Gut vol. 55 , ( 7 ) 1037 - 1046 .
van Heel DA, Hunt KA, Ghosh S, Hervé M, Playford RJ ( 2006 ) . Normal responses to specific NOD1-activating peptidoglycan agonists in the presence of the NOD2 frameshift and other mutations in Crohn's disease . Eur J Immunol vol. 36 , ( 6 ) 1629 - 1635 .
Anderson RP, van Heel DA, Tye-Din JA, Jewell DP, Hill AVS ( 2006 ) . Antagonists and non-toxic variants of the dominant wheat gliadin T cell epitope in coeliac disease . Gut vol. 55 , ( 4 ) 485 - 491 .
van Heel DA ( 2006 ) . Interleukin 15: its role in intestinal inflammation . Gut vol. 55 , ( 4 ) 444 - 445 .
Butler M, Ng C-Y, van Heel DA, Lombardi G, Lechler R, Playford RJ, Ghosh S ( 2006 ) . Modulation of dendritic cell phenotype and function in an in vitro model of the intestinal epithelium . Eur J Immunol vol. 36 , ( 4 ) 864 - 874 .
van Heel DA, Ghosh S, Hunt KA, Mathew CG, Forbes A, Jewell DP, Playford RJ ( 2005 ) . Synergy between TLR9 and NOD2 innate immune responses is lost in genetic Crohn's disease . Gut vol. 54 , ( 11 ) 1553 - 1557 .
van Heel DA, Dart J, Nichols S, Jewell DP, Playford RJ ( 2005 ) . Novel presentation of coeliac disease after following the Atkins' low carbohydrate diet . Gut vol. 54 , ( 9 )
Anderson RP, van Heel DA, Tye-Din JA, Barnardo M, Salio M, Jewell DP, Hill AVS ( 2005 ) . T cells in peripheral blood after gluten challenge in coeliac disease . Gut vol. 54 , ( 9 ) 1217 - 1223 .
van Heel DA, Ghosh S, Butler M, Hunt K, Foxwell BMJ, Mengin-Lecreulx D, Playford RJ ( 2005 ) . Synergistic enhancement of Toll-like receptor responses by NOD1 activation . Eur J Immunol vol. 35 , ( 8 ) 2471 - 2476 .
van Heel DA ( 2005 ) . Kirsner’s Inflammatory Bowel Disease, 6th edn . Gut vol. 54 , ( 8 )
van Heel DA, Hunt K, Greco L, Wijmenga C ( 2005 ) . Genetics in coeliac disease . Best Pract Res Clin Gastroenterol vol. 19 , ( 3 ) 323 - 339 .
van Heel DA, Ghosh S, Butler M, Hunt KA, Lundberg AMC, Ahmad T, McGovern DPB, Onnie C et al. ( 2005 ) . Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease . Lancet vol. 365 , ( 9473 ) 1794 - 1796 .
McGovern DPB, Hysi P, Ahmad T, van Heel DA, Moffatt MF, Carey A, Cookson WOC, Jewell DP ( 2005 ) . Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease . Hum Mol Genet vol. 14 , ( 10 ) 1245 - 1250 .
Hunt KA, McGovern DPB, Kumar PJ, Ghosh S, Travis SPL, Walters JRF, Jewell DP, Playford RJ et al. ( 2005 ) . A common CTLA4 haplotype associated with coeliac disease . Eur J Hum Genet vol. 13 , ( 4 ) 440 - 444 .
Pierik M, Yang H, Barmada MM, Cavanaugh JA, Annese V, Brant SR, Cho JH, Duerr RH et al. ( 2005 ) . The IBD international genetics consortium provides further evidence for linkage to IBD4 and shows gene-environment interaction . Inflamm Bowel Dis vol. 11 , ( 1 ) 1 - 7 .
Ghosh S, van Heel D, Playford RJ ( 2004 ) . Probiotics in inflammatory bowel disease: is it all gut flora modulation? . Gut vol. 53 , ( 5 ) 620 - 622 .
Owens DW, Wilson NJ, Hill AJM, Rugg EL, Porter RM, Hutcheson AM, Quinlan RA, van Heel D et al. ( 2004 ) . Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients . J Cell Sci vol. 117 , ( Pt 10 ) 1989 - 1999 .
van Heel DA, Fisher SA, Kirby A, Daly MJ, Rioux JD, Lewis CM, Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium ( 2004 ) . Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs . Hum Mol Genet vol. 13 , ( 7 ) 763 - 770 .
Frenz MB, van Heel D, Siuda G, Travis SPL ( 2004 ) . Unusual malfunction of percutaneous endoscopic jejunostomy feeding tubes in patients with intestinal dysmotility . Endoscopy vol. 36 , ( 3 ) 234 - 235 .
McGovern DPB, Van Heel DA, Negoro K, Ahmad T, Jewell DP ( 2003 ) . Further evidence of IBD5/CARD15 (NOD2) epistasis in the susceptibility to ulcerative colitis . Am J Hum Genet vol. 73 , ( 6 ) 1465 - 1466 .
van Heel DA, Dechairo BM, Dawson G, McGovern DPB, Negoro K, Carey AH, Cardon LR, Mackay I et al. ( 2003 ) . The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants . Hum Mol Genet vol. 12 , ( 20 ) 2569 - 2575 .
Walters JRF, van Heel DA ( 2003 ) . Detecting the risks of osteoporotic fractures in coeliac disease . Gut vol. 52 , ( 8 ) 1229 - 1230 .
Armuzzi A, Ahmad T, Ling K-L, de Silva A, Cullen S, van Heel D, Orchard TR, Welsh KI et al. ( 2003 ) . Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31 . Gut vol. 52 , ( 8 ) 1133 - 1139 .
O'Callaghan NJ, Adams KE, van Heel DA, Cavanaugh JA ( 2003 ) . Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population . Scand J Gastroenterol vol. 38 , ( 5 ) 533 - 534 .
Negoro K, McGovern DPB, Kinouchi Y, Takahashi S, Lench NJ, Shimosegawa T, Carey A, Cardon LR et al. ( 2003 ) . Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease . Gut vol. 52 , ( 4 ) 541 - 546 .
van Heel DA, McGovern DPB, Cardon LR, Dechairo BM, Lench NJ, Carey AH, Jewell DP ( 2002 ) . Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics . Am J Med Genet vol. 111 , ( 3 ) 253 - 259 .
Ahmad T, Marshall SE, Mulcahy-Hawes K, Orchard T, Crawshaw J, Armuzzi A, Neville M, van Heel D et al. ( 2002 ) . High resolution MIC genotyping: design and application to the investigation of inflammatory bowel disease susceptibility . Tissue Antigens vol. 60 , ( 2 ) 164 - 179 .
Crane AM, Bradbury L, van Heel DA, McGovern DPB, Brophy S, Rubin L, Siminovitch KA, Wordsworth BP et al. ( 2002 ) . Role of NOD2 variants in spondylarthritis . Arthritis Rheum vol. 46 , ( 6 ) 1629 - 1633 .
van Heel DA, Udalova IA, De Silva AP, McGovern DP, Kinouchi Y, Hull J, Lench NJ, Cardon LR et al. ( 2002 ) . Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors . Hum Mol Genet vol. 11 , ( 11 ) 1281 - 1289 .
van Heel DA, Carey AH, Jewell DP ( 2001 ) . Identification of novel polymorphisms in the beta7 integrin gene: family-based association studies in inflammatory bowel disease . Genes Immun vol. 2 , ( 8 ) 455 - 460 .
McGovern DP, van Heel DA, Ahmad T, Jewell DP ( 2001 ) . NOD2 (CARD15), the first susceptibility gene for Crohn's disease . Gut vol. 49 , ( 6 ) 752 - 754 .
Dechairo B, Dimon C, van Heel D, Mackay I, Edwards M, Scambler P, Jewell D, Cardon L et al. ( 2001 ) . Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3) . Eur J Hum Genet vol. 9 , ( 8 ) 627 - 633 .
Van Heel DA, McGovern DP, Jewell DP ( 2001 ) . Crohn's disease: genetic susceptibility, bacteria, and innate immunity . Lancet vol. 357 , ( 9272 ) 1902 - 1904 .
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