Acquired CARD11 Mutation Promotes BCR Independence in Diffuse Large B Cell Lymphoma

Tekijä Caeser, Rebecca, Walker, Ieuan, Gao, Jie, Shah, Nimish, Rasso-Barnett, Livia, Anand, Shubha, Martin, Jose-Ezequiel, Hodson, Daniel J.
Julkaisussa JCO Precis Oncol (2021)

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2

Tekijä Whitworth, James, Casey, Ruth T., Smith, Philip S., Giger, Olivier, Martin, Jose Ezequiel, Clark, Graeme, Cook, Jaqueline, Fernando, Marlee S., Taniere, Phillipe, Maher, Eamonn R.
Julkaisussa Eur J Hum Genet (2021)

Breast cancer in multiple endocrine neoplasia type 1 (MEN1)

Tekijä Cheah, Seong Keat, Bisambar, Chad Ramese, Pitfield, Deborah, Giger, Olivier, Hoopen, Rogier ten, Martin, Jose-Ezequiel, Clark, Graeme R, Park, Soo-Mi, Parkinson, Craig, Challis, Benjamin G, Casey, Ruth T
Julkaisussa Endocrinol Diabetes Metab Case Rep (2021)

Association of acid phosphatase locus 1*C allele with the risk of cardiovascular events in rheumatoid arthritis patients

Tekijä Teruel, María, Martin, Jose-Ezequiel, González-Juanatey, Carlos, López-Mejias, Raquel, Miranda-Filloy, Jose A, Blanco, Ricardo, Balsa, Alejandro, Pascual-Salcedo, Dora, Rodriguez-Rodriguez, Luis, Fernández-Gutierrez, Benjamin, Ortiz, Ana M, González-Alvaro, Isidoro, Gómez-Vaquero, Carmen, Bottini, Nunzio, Llorca, Javier, González-Gay, Miguel A, Martin, Javier
Julkaistu 2011

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

Tekijä Casey, Ruth T., ten Hoopen, Rogier, Ochoa, Eguzkine, Challis, Benjamin G., Whitworth, James, Smith, Philip S., Martin, Jose Ezequiel, Clark, Graeme R., Rodger, Fay, Maranian, Mel, Allinson, Kieren, Madhu, Basetti, Roberts, Thomas, Campos, Luis, Anstee, Joanne, Park, Soo-Mi, Marker, Alison, Watts, Colin, Bulusu, Venkata R., Giger, Olivier T., Maher, Eamonn R.
Julkaisussa Sci Rep (2019)

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Tekijä Casey, Ruth T., Warren, Anne Y., Martin, Jose Ezequiel, Challis, Benjamin G., Rattenberry, Eleanor, Whitworth, James, Andrews, Katrina A., Roberts, Thomas, Clark, Graeme R., West, Hannah, Smith, Philip S., Docquier, France M., Rodger, Fay, Murray, Vicki, Simpson, Helen L., Wallis, Yvonne, Giger, Olivier, Tran, Maxine, Tomkins, Susan, Stewart, Grant D., Park, Soo-Mi, Woodward, Emma R., Maher, Eamonn R.
Julkaisussa J Clin Endocrinol Metab (2017)

The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis

Tekijä Carmona, F. David, Martin, Jose-Ezequiel, Beretta, Lorenzo, Simeón, Carmen P., Carreira, Patricia E., Callejas, José Luis, Fernández-Castro, Mónica, Sáez-Comet, Luis, Beltrán, Emma, Camps, María Teresa, Egurbide, María Victoria, Airó, Paolo, Scorza, Raffaella, Lunardi, Claudio, Hunzelmann, Nicolas, Riemekasten, Gabriela, Witte, Torsten, Kreuter, Alexander, Distler, Jörg H. W., Madhok, Rajan, Shiels, Paul, van Laar, Jacob M., Fonseca, Carmen, Denton, Christopher, Herrick, Ariane, Worthington, Jane, Schuerwegh, Annemie J., Vonk, Madelon C., Voskuyl, Alexandre E., Radstake, Timothy R. D. J., Martín, Javier
Julkaistu 2013

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Tekijä Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Julkaisussa Am J Hum Genet (2018)

Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

Tekijä Bossini-Castillo, Lara, Martin, Jose Ezequiel, Broen, Jasper, Simeon, Carmen P, Beretta, Lorenzo, Gorlova, Olga Y, Vonk, Madelon C, Ortego-Centeno, Norberto, Espinosa, Gerard, Carreira, Patricia, García de la Peña, Paloma, Oreiro, Natividad, Román-Ivorra, José Andrés, Castillo, María Jesús, González-Gay, Miguel A, Sáez-Comet, Luis, Castellví, Ivan, Schuerwegh, Annemie J, Voskuyl, Alexandre E, Hoffmann-Vold, Anna-Maria, Hesselstrand, Roger, Nordin, Annika, Lunardi, Claudio, Scorza, Raffaella, van Laar, Jacob M, Shiels, Paul G, Herrick, Ariane, Worthington, Jane, Fonseca, Carmen, Denton, Christopher, Tan, Filemon K, Arnett, Frank C, Assassi, Shervin, Koeleman, Bobby P, Mayes, Maureen D, Radstake, Timothy R D J, Martin, Javier
Julkaistu 2012

A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

Tekijä Bossini-Castillo, Lara, Martin, Jose-Ezequiel, Broen, Jasper, Gorlova, Olga, Simeón, Carmen P., Beretta, Lorenzo, Vonk, Madelon C., Luis Callejas, Jose, Castellví, Ivan, Carreira, Patricia, José García-Hernández, Francisco, Fernández Castro, Mónica, Coenen, Marieke J.H., Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg H.W., Koeleman, Bobby P., Voskuyl, Alexandre E., Schuerwegh, Annemie J., Palm, Øyvind, Hesselstrand, Roger, Nordin, Annika, Airó, Paolo, Lunardi, Claudio, Scorza, Raffaella, Shiels, Paul, van Laar, Jacob M., Herrick, Ariane, Worthington, Jane, Denton, Christopher, Tan, Filemon K., Arnett, Frank C., Agarwal, Sandeep K., Assassi, Shervin, Fonseca, Carmen, Mayes, Maureen D., Radstake, Timothy R.D.J., Martin, Javier
Julkaistu 2012

Cross-disease Meta-analysis of Genome-wide Association Studies for Systemic Sclerosis and Rheumatoid Arthritis Reveals IRF4 as a New Common Susceptibility Locus

Tekijä López-Isac, Elena, Martín, Jose-Ezequiel, Assassi, Shervin, Simeón, Carmen P, Carreira, Patricia, Ortego-Centeno, Norberto, Freire, Mayka, Beltrán, Emma, Narváez, Javier, Alegre-Sancho, Juan J, Fernández-Gutiérrez, Benjamín, Balsa, Alejandro, Ortiz, Ana M, González-Gay, Miguel A, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Witte, Torsten, Hunzelmann, Nicolas, Distler, Jörg HW, Riekemasten, Gabriella, van der Helm-van Mil, Annete H, de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Voskuyl, Alexandre E, Vonk, Madelon C, Molberg, Øyvind, Merriman, Tony, Hesselstrand, Roger, Nordin, Annika, Padyukov, Leonid, Herrick, Ariane, Eyre, Steve, Koeleman, Bobby PC, Denton, Christopher P, Fonseca, Carmen, Radstake, Timothy RDJ, Worthington, Jane, Mayes, Maureen D, Martín, Javier
Julkaisussa Arthritis Rheumatol (2016)

Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up

Tekijä Martin, Jose-Ezequiel, Broen, Jasper C., Carmona, F. David, Teruel, Maria, Simeon, Carmen P., Vonk, Madelon C., van ‘t Slot, Ruben, Rodriguez-Rodriguez, Luis, Vicente, Esther, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., de la Peña, Paloma García, Carreira, Patricia, Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L.C.M., Kreuter, Alexander, Witte, Torsten, Riemekasten, Gabriella, Airo, Paolo, Scorza, Raffaella, Lunardi, Claudio, Hunzelmann, Nicolas, Distler, Jörg H.W., Beretta, Lorenzo, van Laar, Jacob, Chee, Meng May, Worthington, Jane, Herrick, Ariane, Denton, Christopher, Tan, Filemon K., Arnett, Frank C., Assassi, Shervin, Fonseca, Carmen, Mayes, Maureen D., Radstake, Timothy R.D.J., Koeleman, Bobby P.C., Martin, Javier
Julkaistu 2012

A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

Tekijä Martin, Jose-Ezequiel, Assassi, Shervin, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Simeon, Carmen P., Castellvi, Ivan, Vicente-Rabaneda, Esther, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., Espinosa, Gerard, Carreira, Patricia, Camps, Mayte, Sabio, Jose M., D'alfonso, Sandra, Vonk, Madelon C., Voskuyl, Alexandre E., Schuerwegh, Annemie J., Kreuter, Alexander, Witte, Torsten, Riemekasten, Gabriella, Hunzelmann, Nicolas, Airo, Paolo, Beretta, Lorenzo, Scorza, Raffaella, Lunardi, Claudio, Van Laar, Jacob, Chee, Meng May, Worthington, Jane, Herrick, Arianne, Denton, Christopher, Fonseca, Carmen, Tan, Filemon K., Arnett, Frank, Zhou, Xiaodong, Reveille, John D., Gorlova, Olga, Koeleman, Bobby P.C., Radstake, Timothy R.D.J., Vyse, Timothy, Mayes, Maureen D., Alarcón-Riquelme, Marta E., Martin, Javier
Julkaistu 2013

Genome-wide association study of systemic sclerosis identifies CD247 as a novel susceptibility locus

Tekijä Radstake, Timothy R.D.J., Gorlova, Olga, Rueda, Blanca, Martin, Jose-Ezequiel, Alizadeh, Behrooz Z., Palomino-Morales, Rogelio, Coenen, Marieke J., Vonk, Madelon C., Voskuyl, Alexandre E., Scheurwegh, Annemie J., Broen, Jasper C., van Riel, Piet L.C.M., van ‘t Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Riemekasten, Gabriela, Hunzelmann, Nico, Simeon, Carmen P., Ortego-Centeno, Norberto, González-Gay, Miguel A., González-Escribano, María F., Airo, Paolo, van Laar, Jaap, Herrick, Ariane, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, R, Shiels, Paul, Westhovens, Rene, Kreuter, Alexander, Kiener, Hans, de Baere, Elfride, Witte, Torsten, Padykov, Leonid, Klareskog, Lars, Beretta, Lorenzo, Scorza, Rafaella, Lie, Benedicte A., Hoffman-Vold, Anna-Maria, Carreira, P, Varga, J., Hinchcliff, M., Gregersen, Peter, Lee, Annette T., Ying, Jun, Han, Younghun, Weng, Shih-Feng, Amos, Christopher I., Wigley, Fredrick M., Hummers, Laura, Nelson, J. Lee, Agarwal, Sandeep K., Assassi, Shervin, Gourh, Pravitt, Tan, Filemon K., Koeleman, Bobby P.C., Arnett, Frank C, Martin, Javier, Mayes, Maureen D.
Julkaistu 2010

Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Tekijä Gorlova, Olga, Martin, Jose-Ezequiel, Rueda, Blanca, Koeleman, Bobby P. C., Ying, Jun, Teruel, Maria, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Vonk, Madelon C., Simeon, Carmen P., Alizadeh, Behrooz Z., Coenen, Marieke J. H., Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L. C. M., Vanthuyne, Marie, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Hunzelmann, Nicolas, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., González-Escribano, María F., Airo, Paolo, van Laar, Jacob, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul G., Westhovens, Rene, Kreuter, Alexander, de Baere, Elfride, Witte, Torsten, Padyukov, Leonid, Nordin, Annika, Scorza, Raffaella, Lunardi, Claudio, Lie, Benedicte A., Hoffmann-Vold, Anna-Maria, Palm, Øyvind, García de la Peña, Paloma, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Gourh, Pravitt, Amos, Christopher I., Wigley, Frederick M., Hummers, Laura K., Hummers, J., Nelson, J. Lee, Riemekasten, Gabriella, Herrick, Ariane, Beretta, Lorenzo, Fonseca, Carmen, Denton, Christopher P., Gregersen, Peter K., Agarwal, Sandeep, Assassi, Shervin, Tan, Filemon K., Arnett, Frank C., Radstake, Timothy R. D. J., Mayes, Maureen D., Martin, Javier
Julkaistu 2011

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Tekijä Gorlova, Olga, Martin, Jose-Ezequiel, Rueda, Blanca, Koeleman, Bobby P. C., Ying, Jun, Teruel, Maria, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Vonk, Madelon C., Simeon, Carmen P., Alizadeh, Behrooz Z., Coenen, Marieke J. H., Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L. C. M., Vanthuyne, Marie, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Hunzelmann, Nicolas, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., González-Escribano, María F., Airo, Paolo, van Laar, Jacob, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul G., Westhovens, Rene, Kreuter, Alexander, de Baere, Elfride, Witte, Torsten, Padyukov, Leonid, Nordin, Annika, Scorza, Raffaella, Lunardi, Claudio, Lie, Benedicte A., Hoffmann-Vold, Anna-Maria, Palm, Øyvind, García de la Peña, Paloma, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Gourh, Pravitt, Amos, Christopher I., Wigley, Frederick M., Hummers, Laura K., Nelson, J. Lee, Riemekasten, Gabriella, Herrick, Ariane, Beretta, Lorenzo, Fonseca, Carmen, Denton, Christopher P., Gregersen, Peter K., Agarwal, Sandeep, Assassi, Shervin, Tan, Filemon K., Arnett, Frank C., Radstake, Timothy R. D. J., Mayes, Maureen D., Martin, Javier
Julkaistu 2011

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Tekijä Gorlova, Olga, Martin, Jose-Ezequiel, Rueda, Blanca, Koeleman, Bobby P. C., Ying, Jun, Teruel, Maria, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Vonk, Madelon C., Simeon, Carmen P., Alizadeh, Behrooz Z., Coenen, Marieke J. H., Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L. C. M., Vanthuyne, Marie, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Hunzelmann, Nicolas, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., González-Escribano, María F., Airo, Paolo, van Laar, Jacob, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul G., Westhovens, Rene, Kreuter, Alexander, de Baere, Elfride, Witte, Torsten, Padyukov, Leonid, Nordin, Annika, Scorza, Raffaella, Lunardi, Claudio, Lie, Benedicte A., Hoffmann-Vold, Anna-Maria, Palm, Øyvind, García de la Peña, Paloma, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Gourh, Pravitt, Amos, Christopher I., Wigley, Frederick M., Hummers, Laura K., Nelson, J. Lee, Riemekasten, Gabriella, Herrick, Ariane, Beretta, Lorenzo, Fonseca, Carmen, Denton, Christopher P., Gregersen, Peter K., Agarwal, Sandeep, Assassi, Shervin, Tan, Filemon K., Arnett, Frank C., Radstake, Timothy R. D. J., Mayes, Maureen D., Martin, Javier
Julkaistu 2011

Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

Tekijä Mayes, Maureen D., Bossini-Castillo, Lara, Gorlova, Olga, Martin, José Ezequiel, Zhou, Xiaodong, Chen, Wei V., Assassi, Shervin, Ying, Jun, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Guerra, Sandra, Teruel, María, Carmona, Francisco David, Gregersen, Peter K., Lee, Annette T., López-Isac, Elena, Ochoa, Eguzkine, Carreira, Patricia, Simeón, Carmen Pilar, Castellví, Iván, González-Gay, Miguel Ángel, Zhernakova, Alexandra, Padyukov, Leonid, Alarcón-Riquelme, Marta, Wijmenga, Cisca, Brown, Matthew, Beretta, Lorenzo, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg H.W., Voskuyl, Alexandre E., Schuerwegh, Annemie J., Hesselstrand, Roger, Nordin, Annika, Airó, Paolo, Lunardi, Claudio, Shiels, Paul, van Laar, Jacob M., Herrick, Ariane, Worthington, Jane, Denton, Christopher, Wigley, Fredrick M., Hummers, Laura K., Varga, John, Hinchcliff, Monique E., Baron, Murray, Hudson, Marie, Pope, Janet E., Furst, Daniel E., Khanna, Dinesh, Phillips, Kristin, Schiopu, Elena, Segal, Barbara M., Molitor, Jerry A., Silver, Richard M., Steen, Virginia D., Simms, Robert W., Lafyatis, Robert A., Fessler, Barri J., Frech, Tracy M., AlKassab, Firas, Docherty, Peter, Kaminska, Elzbieta, Khalidi, Nader, Jones, Henry Niall, Markland, Janet, Robinson, David, Broen, Jasper, Radstake, Timothy R.D.J., Fonseca, Carmen, Koeleman, Bobby P., Martin, Javier
Julkaistu 2014

A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

Tekijä Carmona, F. David, Mackie, Sarah L., Martín, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castañeda, Santos, Cid, Maria C., Hernández-Rodríguez, José, Prieto-González, Sergio, Solans, Roser, Ramentol-Sintas, Marc, González-Escribano, M. Francisca, Ortiz-Fernández, Lourdes, Morado, Inmaculada C., Narváez, Javier, Miranda-Filloy, José A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schönau, Verena, Franke, Andre, Palm, Øyvind, Molberg, Øyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg, Steven R., Gregersen, Peter K., Pease, Colin T., Gough, Andrew, Green, Michael, Hordon, Lesley, Jarrett, Stephen, Watts, Richard, Levy, Sarah, Patel, Yusuf, Kamath, Sanjeet, Dasgupta, Bhaskar, Worthington, Jane, Koeleman, Bobby P.C., de Bakker, Paul I.W., Barrett, Jennifer H., Salvarani, Carlo, Merkel, Peter A., González-Gay, Miguel A., Morgan, Ann W., Martín, Javier
Julkaisussa Am J Hum Genet (2015)