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

A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease

por Patel, Aniruddh P., Wang, Minxian, Ruan, Yunfeng, Koyama, Satoshi, Clarke, Shoa L., Yang, Xiong, Tcheandjieu, Catherine, Agrawal, Saaket, Fahed, Akl C., Ellinor, Patrick T., Tsao, Philip S., Sun, Yan V., Cho, Kelly, Wilson, Peter W. F., Assimes, Themistocles L., van Heel, David A., Butterworth, Adam S., Aragam, Krishna G., Natarajan, Pradeep, Khera, Amit V.
Publicado 2023

Influence of autozygosity on common disease risk across the phenotypic spectrum

por Malawsky, Daniel S., van Walree, Eva, Jacobs, Benjamin M., Heng, Teng Hiang, Huang, Qin Qin, Sabir, Ataf H., Rahman, Saadia, Sharif, Saghira Malik, Khan, Ahsan, Mirkov, Maša Umićević, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S., Posthuma, Danielle, Newman, William G., Griffiths, Christopher J., Mathur, Rohini, van Heel, David A., Finer, Sarah, O’Connell, Jared, Martin, Hilary C.
Publicado 2023

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

por McGregor, Tracy L, Hunt, Karen A, Yee, Elaine, Mason, Dan, Nioi, Paul, Ticau, Simina, Pelosi, Marissa, Loken, Perry R, Finer, Sarah, Lawlor, Deborah A, Fauman, Eric B, Huang, Qin Qin, Griffiths, Christopher J, MacArthur, Daniel G, Trembath, Richard C, Oglesbee, Devin, Lieske, John C, Erbe, David V, Wright, John, van Heel, David A
Publicado 2020

Pervasive Sharing of Genetic Effects in Autoimmune Disease

por Cotsapas, Chris, Voight, Benjamin F., Rossin, Elizabeth, Lage, Kasper, Neale, Benjamin M., Wallace, Chris, Abecasis, Gonçalo R., Barrett, Jeffrey C., Behrens, Timothy, Cho, Judy, De Jager, Philip L., Elder, James T., Graham, Robert R., Gregersen, Peter, Klareskog, Lars, Siminovitch, Katherine A., van Heel, David A., Wijmenga, Cisca, Worthington, Jane, Todd, John A., Hafler, David A., Rich, Stephen S., Daly, Mark J.
Publicado 2011

Unraveling the Regulatory Mechanisms Underlying Tissue-Dependent Genetic Variation of Gene Expression

por Fu, Jingyuan, Wolfs, Marcel G. M., Deelen, Patrick, Westra, Harm-Jan, Fehrmann, Rudolf S. N., te Meerman, Gerard J., Buurman, Wim A., Rensen, Sander S. M., Groen, Harry J. M., Weersma, Rinse K., van den Berg, Leonard H., Veldink, Jan, Ophoff, Roel A., Snieder, Harold, van Heel, David, Jansen, Ritsert C., Hofker, Marten H., Wijmenga, Cisca, Franke, Lude
Publicado 2012

Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology

por Ludvigsson, Jonas F, Bai, Julio C, Biagi, Federico, Card, Timothy R, Ciacci, Carolina, Ciclitira, Paul J, Green, Peter H R, Hadjivassiliou, Marios, Holdoway, Anne, van Heel, David A, Kaukinen, Katri, Leffler, Daniel A, Leonard, Jonathan N, Lundin, Knut E A, McGough, Norma, Davidson, Mike, Murray, Joseph A, Swift, Gillian L, Walker, Marjorie M, Zingone, Fabiana, Sanders, David S
Publicado 2014

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

por Romanos, Jihane, Rosén, Anna, Kumar, Vinod, Trynka, Gosia, Franke, Lude, Szperl, Agata, Gutierrez-Achury, Javier, van Diemen, Cleo C, Kanninga, Roan, Jankipersadsing, Soesma A, Steck, Andrea, Eisenbarth, Georges, van Heel, David A, Cukrowska, Bozena, Bruno, Valentina, Mazzilli, Maria Cristina, Núñez, Concepcion, Bilbao, Jose Ramon, Mearin, M Luisa, Barisani, Donatella, Rewers, Marian, Norris, Jill M, Ivarsson, Anneli, Boezen, H Marieke, Liu, Edwin, Wijmenga, Cisca
Publicado 2014

Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease

por Williams, Alexander T., Chen, Jing, Coley, Kayesha, Batini, Chiara, Izquierdo, Abril, Packer, Richard, Abner, Erik, Kanoni, Stavroula, Shepherd, David J., Free, Robert C., Hollox, Edward J., Brunskill, Nigel J., Ntalla, Ioanna, Reeve, Nicola, Brightling, Christopher E., Venn, Laura, Adams, Emma, Bee, Catherine, Wallace, Susan E., Pareek, Manish, Hansell, Anna L., Esko, Tõnu, Stow, Daniel, Jacobs, Benjamin M., van Heel, David A., Hennah, William, Rao, Balasubramanya S., Dudbridge, Frank, Wain, Louise V., Shrine, Nick, Tobin, Martin D., John, Catherine
Publicado 2023

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

por Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth
Publicado 2020

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

por Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth
Publicado 2020

Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA

por Fehrmann, Rudolf S. N., Jansen, Ritsert C., Veldink, Jan H., Westra, Harm-Jan, Arends, Danny, Bonder, Marc Jan, Fu, Jingyuan, Deelen, Patrick, Groen, Harry J. M., Smolonska, Asia, Weersma, Rinse K., Hofstra, Robert M. W., Buurman, Wim A., Rensen, Sander, Wolfs, Marcel G. M., Platteel, Mathieu, Zhernakova, Alexandra, Elbers, Clara C., Festen, Eleanora M., Trynka, Gosia, Hofker, Marten H., Saris, Christiaan G. J., Ophoff, Roel A., van den Berg, Leonard H., van Heel, David A., Wijmenga, Cisca, te Meerman, Gerard J., Franke, Lude
Publicado 2011

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

por Corbin, Laura J., Tan, Vanessa Y., Hughes, David A., Wade, Kaitlin H., Paul, Dirk S., Tansey, Katherine E., Butcher, Frances, Dudbridge, Frank, Howson, Joanna M., Jallow, Momodou W., John, Catherine, Kingston, Nathalie, Lindgren, Cecilia M., O’Donavan, Michael, O’Rahilly, Stephen, Owen, Michael J., Palmer, Colin N. A., Pearson, Ewan R., Scott, Robert A., van Heel, David A., Whittaker, John, Frayling, Tim, Tobin, Martin D., Wain, Louise V., Smith, George Davey, Evans, David M., Karpe, Fredrik, McCarthy, Mark I., Danesh, John, Franks, Paul W., Timpson, Nicholas J.
Publicado 2018

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

por Hunt, Karen A, Mistry, Vanisha, Bockett, Nicholas A, Ahmad, Tariq, Ban, Maria, Barker, Jonathan N, Barrett, Jeffrey C, Blackburn, Hannah, Brand, Oliver, Burren, Oliver, Capon, Francesca, Compston, Alastair, Gough, Stephen CL, Jostins, Luke, Kong, Yong, Lee, James C, Lek, Monkol, MacArthur, Daniel G, Mansfield, John C, Mathew, Christopher G, Mein, Charles A, Mirza, Muddassar, Nutland, Sarah, Onengut-Gumuscu, Suna, Papouli, Efterpi, Parkes, Miles, Rich, Stephen S., Sawcer, Steven, Satsangi, Jack, Simmonds, Matthew J, Trembath, Richard C, Walker, Neil M, Wozniak, Eva, Todd, John A, Simpson, Michael A, Plagnol, Vincent, van Heel, David A
Publicado 2013

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

por Lenz, Tobias L., Deutsch, Aaron J., Han, Buhm, Hu, Xinli, Okada, Yukinori, Eyre, Stephen, Knapp, Michael, Zhernakova, Alexandra, Huizinga, Tom W.J., Abecasis, Goncalo, Becker, Jessica, Boeckxstaens, Guy E., Chen, Wei-Min, Franke, Andre, Gladman, Dafna D., Gockel, Ines, Gutierrez-Achury, Javier, Martin, Javier, Nair, Rajan P., Nöthen, Markus M., Onengut-Gumuscu, Suna, Rahman, Proton, Rantapää-Dahlqvist, Solbritt, Stuart, Philip E., Tsoi, Lam C., Van Heel, David A., Worthington, Jane, Wouters, Mira M., Klareskog, Lars, Elder, James T., Gregersen, Peter K., Schumacher, Johannes, Rich, Stephen S., Wijmenga, Cisca, Sunyaev, Shamil R., de Bakker, Paul I.W., Raychaudhuri, Soumya
Publicado 2015

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

por Prins, Bram. P., Abbasi, Ali, Wong, Anson, Vaez, Ahmad, Nolte, Ilja, Franceschini, Nora, Stuart, Philip E., Guterriez Achury, Javier, Mistry, Vanisha, Bradfield, Jonathan P., Valdes, Ana M., Bras, Jose, Shatunov, Aleksey, Lu, Chen, Han, Buhm, Raychaudhuri, Soumya, Bevan, Steve, Mayes, Maureen D., Tsoi, Lam C., Evangelou, Evangelos, Nair, Rajan P., Grant, Struan F. A., Polychronakos, Constantin, Radstake, Timothy R. D., van Heel, David A., Dunstan, Melanie L., Wood, Nicholas W., Al-Chalabi, Ammar, Dehghan, Abbas, Hakonarson, Hakon, Markus, Hugh S., Elder, James T., Knight, Jo, Arking, Dan E., Spector, Timothy D., Koeleman, Bobby P. C., van Duijn, Cornelia M., Martin, Javier, Morris, Andrew P., Weersma, Rinse K., Wijmenga, Cisca, Munroe, Patricia B., Perry, John R. B., Pouget, Jennie G., Jamshidi, Yalda, Snieder, Harold, Alizadeh, Behrooz Z.
Publicado 2016

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

por Trynka, Gosia, Hunt, Karen A, Bockett, Nicholas A, Romanos, Jihane, Mistry, Vanisha, Szperl, Agata, Bakker, Sjoerd F, Bardella, Maria Teresa, Bhaw-Rosun, Leena, Castillejo, Gemma, de la Concha, Emilio G., de Almeida, Rodrigo Coutinho, Dias, Kerith-Rae M, van Diemen, Cleo C., Dubois, Patrick CA, Duerr, Richard H., Edkins, Sarah, Franke, Lude, Fransen, Karin, Gutierrez, Javier, Heap, Graham AR, Hrdlickova, Barbara, Hunt, Sarah, Izurieta, Leticia Plaza, Izzo, Valentina, Joosten, Leo AB, Langford, Cordelia, Mazzilli, Maria Cristina, Mein, Charles A, Midah, Vandana, Mitrovic, Mitja, Mora, Barbara, Morelli, Marinita, Nutland, Sarah, Núñez, Concepción, Onengut-Gumuscu, Suna, Pearce, Kerra, Platteel, Mathieu, Polanco, Isabel, Potter, Simon, Ribes-Koninckx, Carmen, Ricaño-Ponce, Isis, Rich, Stephen S., Rybak, Anna, Santiago, José Luis, Senapati, Sabyasachi, Sood, Ajit, Szajewska, Hania, Troncone, Riccardo, Varadé, Jezabel, Wallace, Chris, Wolters, Victorien M, Zhernakova, Alexandra, Thelma, B.K., Cukrowska, Bozena, Urcelay, Elena, Bilbao, Jose Ramon, Mearin, M Luisa, Barisani, Donatella, Barrett, Jeffrey C, Plagnol, Vincent, Deloukas, Panos, Wijmenga, Cisca, van Heel, David A
Publicado 2011

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

por Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.
Publicado 2018

Multiple common variants for celiac disease influencing immune gene expression

por Dubois, Patrick CA, Trynka, Gosia, Franke, Lude, Hunt, Karen A, Romanos, Jihane, Curtotti, Alessandra, Zhernakova, Alexandra, Heap, Graham AR, Ádány, Róza, Aromaa, Arpo, Bardella, Maria Teresa, van den Berg, Leonard H, Bockett, Nicholas A, de la Concha, Emilio G., Dema, Bárbara, Fehrmann, Rudolf SN, Fernández-Arquero, Miguel, Fiatal, Szilvia, Grandone, Elvira, Green, Peter M, Groen, Harry JM, Gwilliam, Rhian, Houwen, Roderick HJ, Hunt, Sarah E, Kaukinen, Katri, Kelleher, Dermot, Korponay-Szabo, Ilma, Kurppa, Kalle, MacMathuna, Padraic, Mäki, Markku, Mazzilli, Maria Cristina, McCann, Owen T, Mearin, M Luisa, Mein, Charles A, Mirza, Muddassar M, Mistry, Vanisha, Mora, Barbara, Morley, Katherine I, Mulder, Chris J, Murray, Joseph A, Núñez, Concepción, Oosterom, Elvira, Ophoff, Roel A, Polanco, Isabel, Peltonen, Leena, Platteel, Mathieu, Rybak, Anna, Salomaa, Veikko, Schweizer, Joachim J, Sperandeo, Maria Pia, Tack, Greetje J, Turner, Graham, Veldink, Jan H, Verbeek, Wieke HM, Weersma, Rinse K, Wolters, Victorien M, Urcelay, Elena, Cukrowska, Bozena, Greco, Luigi, Neuhausen, Susan L., McManus, Ross, Barisani, Donatella, Deloukas, Panos, Barrett, Jeffrey C, Saavalainen, Paivi, Wijmenga, Cisca, van Heel, David A
Publicado 2010