Genetics and genomics of pulmonary arterial hypertension von Morrell, Nicholas W, Aldred, Micheala A, Chung, Wendy K, Elliott, C Gregory, Nichols, William C, Soubrier, Florent, Trembath, Richard C, Loyd, James E

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Genetics and Genomics of Pulmonary Arterial Hypertension von Soubrier, Florent, MD, PhD, Chung, Wendy K., MD, PhD, Machado, Rajiv, PhD, Grünig, Ekkehard, MD, Aldred, Micheala, PhD, Geraci, Mark, MD, Loyd, James E., MD, Elliott, C. Gregory, MD, Trembath, Richard C., MD, Newman, John H., MD, Humbert, Marc, MD, PhD

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The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans von Di Meglio, Paola, Di Cesare, Antonella, Laggner, Ute, Chu, Chung-Ching, Napolitano, Luca, Villanova, Federica, Tosi, Isabella, Capon, Francesca, Trembath, Richard C, Peris, Ketty, Nestle, Frank O

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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome von Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

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Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci von Ellinghaus, David, Ellinghaus, Eva, Nair, Rajan P., Stuart, Philip E., Esko, Tõnu, Metspalu, Andres, Debrus, Sophie, Raelson, John V., Tejasvi, Trilokraj, Belouchi, Majid, West, Sarah L., Barker, Jonathan N., Kõks, Sulev, Kingo, Külli, Balschun, Tobias, Palmieri, Orazio, Annese, Vito, Gieger, Christian, Wichmann, H. Erich, Kabesch, Michael, Trembath, Richard C., Mathew, Christopher G., Abecasis, Gonçalo R., Weidinger, Stephan, Nikolaus, Susanna, Schreiber, Stefan, Elder, James T., Weichenthal, Michael, Nothnagel, Michael, Franke, Andre

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

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Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension von Soon, Elaine, Holmes, Alan M, Treacy, Carmen M, Doughty, Natalie J, Southgate, Laura, Machado, Rajiv D, Trembath, Richard C, Jennings, Simon, Barker, Lucy, Nicklin, Paul, Walker, Christoph, Budd, David C, Pepke-Zaba, Joanna, Morrell, Nicholas W

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Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis von Onoufriadis, Alexandros, Simpson, Michael A., Pink, Andrew E., Di Meglio, Paola, Smith, Catherine H., Pullabhatla, Venu, Knight, Jo, Spain, Sarah L., Nestle, Frank O., Burden, A. David, Capon, Francesca, Trembath, Richard C., Barker, Jonathan N.

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Genetics and Genomics of Pulmonary Arterial Hypertension von Machado, Rajiv D., PhD, Eickelberg, Oliver, MD, Elliott, C. Gregory, MD, Geraci, Mark W., MD, Hanaoka, Masayuki, MD, PhD, Loyd, James E., MD, Newman, John H., MD, Phillips, John A., MD, Soubrier, Florent, MD, PhD, Trembath, Richard C., BSc, Chung, Wendy K., MD, PhD

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects von Machado, Rajiv D., Southgate, Laura, Eichstaedt, Christina A., Aldred, Micheala A., Austin, Eric D., Best, D. Hunter, Chung, Wendy K., Benjamin, Nicola, Elliott, C. Gregory, Eyries, Mélanie, Fischer, Christine, Gräf, Stefan, Hinderhofer, Katrin, Humbert, Marc, Keiles, Steven B., Loyd, James E., Morrell, Nicholas W., Newman, John H., Soubrier, Florent, Trembath, Richard C., Viales, Rebecca Rodríguez, Grünig, Ekkehard

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Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study von Hodgson, Sam, Huang, Qin Qin, Sallah, Neneh, Griffiths, Chris J, Newman, William G, Trembath, Richard C, Wright, John, Lumbers, R Thomas, Kuchenbaecker, Karoline, van Heel, David A, Mathur, Rohini, Martin, Hilary C, Finer, Sarah

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Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease von Sharifi, Reza, Morra, Rosa, Denise Appel, C, Tallis, Michael, Chioza, Barry, Jankevicius, Gytis, Simpson, Michael A, Matic, Ivan, Ozkan, Ege, Golia, Barbara, Schellenberg, Matthew J, Weston, Ria, Williams, Jason G, Rossi, Marianna N, Galehdari, Hamid, Krahn, Juno, Wan, Alexander, Trembath, Richard C, Crosby, Andrew H, Ahel, Dragana, Hay, Ron, Ladurner, Andreas G, Timinszky, Gyula, Williams, R Scott, Ahel, Ivan

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Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals von Huang, Qin Qin, Sallah, Neneh, Dunca, Diana, Trivedi, Bhavi, Hunt, Karen A., Hodgson, Sam, Lambert, Samuel A., Arciero, Elena, Wright, John, Griffiths, Chris, Trembath, Richard C., Hemingway, Harry, Inouye, Michael, Finer, Sarah, van Heel, David A., Lumbers, R. Thomas, Martin, Hilary C., Kuchenbaecker, Karoline

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Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci von Tsoi, Lam C., Spain, Sarah L., Ellinghaus, Eva, Stuart, Philip E., Capon, Francesca, Knight, Jo, Tejasvi, Trilokraj, Kang, Hyun M., Allen, Michael H., Lambert, Sylviane, Stoll, Stefan W., Weidinger, Stephan, Gudjonsson, Johann E., Koks, Sulev, Kingo, Külli, Esko, Tonu, Das, Sayantan, Metspalu, Andres, Weichenthal, Michael, Enerback, Charlotta, Krueger, Gerald G., Voorhees, John J., Chandran, Vinod, Rosen, Cheryl F., Rahman, Proton, Gladman, Dafna D., Reis, Andre, Nair, Rajan P., Franke, Andre, Barker, Jonathan N.W.N., Abecasis, Goncalo R., Trembath, Richard C., Elder, James T.

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Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease von Morgan, Neil V, Morris, Mark R, Cangul, Hakan, Gleeson, Diane, Straatman-Iwanowska, Anna, Davies, Nicholas, Keenan, Stephen, Pasha, Shanaz, Rahman, Fatimah, Gentle, Dean, Vreeswijk, Maaike P G, Devilee, Peter, Knowles, Margaret A, Ceylaner, Serdar, Trembath, Richard C, Dalence, Carlos, Kismet, Erol, Köseoğlu, Vedat, Rossbach, Hans-Christoph, Gissen, Paul, Tannahill, David, Maher, Eamonn R

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AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production von Mahil, Satveer K., Twelves, Sophie, Farkas, Katalin, Setta-Kaffetzi, Niovi, Burden, A. David, Gach, Joanna E., Irvine, Alan D., Képíró, László, Mockenhaupt, Maja, Oon, Hazel H., Pinner, Jason, Ranki, Annamari, Seyger, Marieke M.B., Soler-Palacin, Pere, Storan, Eoin R., Tan, Eugene S., Valeyrie-Allanore, Laurence, Young, Helen S., Trembath, Richard C., Choon, Siew-Eng, Szell, Marta, Bata-Csorgo, Zsuzsanna, Smith, Catherine H., Di Meglio, Paola, Barker, Jonathan N., Capon, Francesca

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AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking von Setta-Kaffetzi, Niovi, Simpson, Michael A., Navarini, Alexander A., Patel, Varsha M., Lu, Hui-Chun, Allen, Michael H., Duckworth, Michael, Bachelez, Hervé, Burden, A. David, Choon, Siew-Eng, Griffiths, Christopher E.M., Kirby, Brian, Kolios, Antonios, Seyger, Marieke M.B., Prins, Christa, Smahi, Asma, Trembath, Richard C., Fraternali, Franca, Smith, Catherine H., Barker, Jonathan N., Capon, Francesca

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Bone Morphogenetic Protein (BMP) and Activin Type II Receptors Balance BMP9 Signals Mediated by Activin Receptor-like Kinase-1 in Human Pulmonary Artery Endothelial Cells von Upton, Paul D., Davies, Rachel J., Trembath, Richard C., Morrell, Nicholas W.

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

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SUN1 Interacts with Nuclear Lamin A and Cytoplasmic Nesprins To Provide a Physical Connection between the Nuclear Lamina and the Cytoskeleton von Haque, Farhana, Lloyd, David J., Smallwood, Dawn T., Dent, Carolyn L., Shanahan, Catherine M., Fry, Andrew M., Trembath, Richard C., Shackleton, Sue

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