No Evidence in a Large UK Collection for Celiac Disease Risk Variants Reported by a Spanish Study

por Hunt, Karen A., Franke, Lude, Deloukas, Panos, Wijmenga, Cisca, van Heel, David A.
Publicado 2008

Further Evidence of IBD5/CARD15 (NOD2) Epistasis in the Susceptibility to Ulcerative Colitis

por McGovern, Dermot P. B., van Heel, David A., Negoro, Kenichi, Ahmad, Tariq, Jewell, Derek P.
Publicado 2003

Comparative methylomics reveals gene-body H3K36me3 in Drosophila predicts DNA methylation and CpG landscapes in other invertebrates

por Nanty, Lisa, Carbajosa, Guillermo, Heap, Graham A., Ratnieks, Francis, van Heel, David A., Down, Thomas A., Rakyan, Vardhman K.
Publicado 2011

Complex nature of SNP genotype effects on gene expression in primary human leucocytes

por Heap, Graham A, Trynka, Gosia, Jansen, Ritsert C, Bruinenberg, Marcel, Swertz, Morris A, Dinesen, Lotte C, Hunt, Karen A, Wijmenga, Cisca, vanHeel, David A, Franke, Lude
Publicado 2009

Human Pancreatic Secretory Trypsin Inhibitor Stabilizes Intestinal Mucosa against Noxious Agents

por Marchbank, Tania, Mahmood, Asif, Fitzgerald, Anthony J., Domin, Jan, Butler, Matt, Goodlad, Robert A., Elia, George, Cox, Helen M., van Heel, David A., Ghosh, Subrata, Playford, Raymond J.
Publicado 2007

Fine-mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

por Gutierrez-Achury, Javier, Zhernakova, Alexandra, Pulit, Sara L., Trynka, Gosia, Hunt, Karen A., Romanos, Jihane, Raychaudhuri, Soumya, van Heel, David A., Wijmenga, Cisca, de Bakker, Paul I.W.
Publicado en Nat Genet (2015)

Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms

por Monsuur, Alienke J., de Bakker, Paul I. W., Zhernakova, Alexandra, Pinto, Dalila, Verduijn, Willem, Romanos, Jihane, Auricchio, Renata, Lopez, Ana, van Heel, David A., Crusius, J. Bart A, Wijmenga, Cisca
Publicado 2008

Correction: Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms

por Monsuur, Alienke J., de Bakker, Paul I. W., Zhernakova, Alexandra, Pinto, Dalila, Verduijn, Willem, Romanos, Jihane, Auricchio, Renata, Lopez, Ana, van Heel, David A., Crusius, J. Bart A, Wijmenga, Cisca
Publicado 2009

Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

por Mistry, Vanisha, Bockett, Nicholas A., Levine, Adam P., Mirza, Muddassar M., Hunt, Karen A., Ciclitira, Paul J., Hummerich, Holger, Neuhausen, Susan L., Simpson, Michael A., Plagnol, Vincent, van Heel, David A.
Publicado en PLoS One (2015)

Detection, Imputation, and Association Analysis of Small Deletions and Null Alleles on Oligonucleotide Arrays

por Franke, Lude, de Kovel, Carolien G.F., Aulchenko, Yurii S., Trynka, Gosia, Zhernakova, Alexandra, Hunt, Karen A., Blauw, Hylke M., van den Berg, Leonard H., Ophoff, Roel, Deloukas, Panagiotis, van Heel, David A., Wijmenga, Cisca
Publicado 2008

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

por Blaydon, Diana C., Nitoiu, Daniela, Eckl, Katja-Martina, Cabral, Rita M., Bland, Philip, Hausser, Ingrid, van Heel, David A., Rajpopat, Shefali, Fischer, Judith, Oji, Vinzenz, Zvulunov, Alex, Traupe, Heiko, Hennies, Hans Christian, Kelsell, David P.
Publicado 2011

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

por Narasimhan, Vagheesh M., Rahbari, Raheleh, Scally, Aylwyn, Wuster, Arthur, Mason, Dan, Xue, Yali, Wright, John, Trembath, Richard C., Maher, Eamonn R., van Heel, David A., Auton, Adam, Hurles, Matthew E., Tyler-Smith, Chris, Durbin, Richard
Publicado en Nat Commun (2017)

Evaluating drug targets through human loss-of-function genetic variation

por Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Publicado en Nature (2020)

Author Correction: Evaluating drug targets through human loss-of-function genetic variation

por Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Publicado en Nature (2021)

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

por Tummala, Hemanth, Walne, Amanda J., Williams, Mike, Bockett, Nicholas, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Wynn, Rob, Leblanc, Thierry, Fitzgibbon, Jude, Kelsell, David P., van Heel, David A., Payne, Elspeth, Plagnol, Vincent, Dokal, Inderjeet, Vulliamy, Tom
Publicado en Am J Hum Genet (2016)

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people

por Finer, Sarah, Martin, Hilary C, Khan, Ahsan, Hunt, Karen A, MacLaughlin, Beverley, Ahmed, Zaheer, Ashcroft, Richard, Durham, Ceri, MacArthur, Daniel G, McCarthy, Mark I, Robson, John, Trivedi, Bhavi, Griffiths, Chris, Wright, John, Trembath, Richard C, van Heel, David A
Publicado en Int J Epidemiol (2020)

Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease

por Smyth, Deborah J, Plagnol, Vincent, Walker, Neil M, Cooper, Jason D, Downes, Kate, Yang, Jennie HM, Howson, Joanna MM, Stevens, Helen, McManus, Ross, Wijmenga, Cisca, Heap, Graham A., Dubois, Patrick C., Clayton, David G., Hunt, Karen A, van Heel, David A, Todd, John A
Publicado 2008

Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection

por Zhernakova, Alexandra, Elbers, Clara C., Ferwerda, Bart, Romanos, Jihane, Trynka, Gosia, Dubois, Patrick C., de Kovel, Carolien G.F., Franke, Lude, Oosting, Marije, Barisani, Donatella, Bardella, Maria Teresa, Joosten, Leo A.B., Saavalainen, Paivi, van Heel, David A., Catassi, Carlo, Netea, Mihai G., Wijmenga, Cisca
Publicado 2010

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

por Heap, Graham A., Yang, Jennie H.M., Downes, Kate, Healy, Barry C., Hunt, Karen A., Bockett, Nicholas, Franke, Lude, Dubois, Patrick C., Mein, Charles A., Dobson, Richard J., Albert, Thomas J., Rodesch, Matthew J., Clayton, David G., Todd, John A., van Heel, David A., Plagnol, Vincent
Publicado 2010

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

por Festen, Eleonora A. M., Goyette, Philippe, Green, Todd, Boucher, Gabrielle, Beauchamp, Claudine, Trynka, Gosia, Dubois, Patrick C., Lagacé, Caroline, Stokkers, Pieter C. F., Hommes, Daan W., Barisani, Donatella, Palmieri, Orazio, Annese, Vito, van Heel, David A., Weersma, Rinse K., Daly, Mark J., Wijmenga, Cisca, Rioux, John D.
Publicado 2011