The role of genomics and genetics in pulmonary arterial hypertension

por Swietlik, Emilia M., Gräf, Stefan, Morrell, Nicholas W.
Publicado 2020

‘There and Back Again’—Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension

por Swietlik, Emilia M., Prapa, Matina, Martin, Jennifer M., Pandya, Divya, Auckland, Kathryn, Morrell, Nicholas W., Gräf, Stefan
Publicado 2020

A pilot study to examine association of BMI with functional class and 6 min walk distance in idiopathic and heritable PAH: Possible association with estrogen metabolism

por MacLean, Margaret R., Pandya, Divya, Swietlik, Emilia M., Denver, Nina, Mair, Kirsty, Morrell, Nicholas W., Gräf, Stefan
Publicado 2022

Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension

por Ulrich, Anna, Otero-Núñez, Pablo, Wharton, John, Swietlik, Emilia M., Gräf, Stefan, Morrell, Nicholas W., Wang, Dennis, Lawrie, Allan, Wilkins, Martin R., Prokopenko, Inga, Rhodes, Christopher J.
Publicado 2020

Plasma metabolomics exhibit response to therapy in chronic thromboembolic pulmonary hypertension

por Swietlik, Emilia M., Ghataorhe, Pavandeep, Zalewska, Kasia I., Wharton, John, Howard, Luke S., Taboada, Dolores, Cannon, John E., Morrell, Nicholas W., Wilkins, Martin R., Toshner, Mark, Pepke-Zaba, Joanna, Rhodes, Christopher J.
Publicado 2021

Different Cytokine Patterns in BMPR2-Mutation-Positive Patients and Patients With Pulmonary Arterial Hypertension Without Mutations and Their Influence on Survival

por Schwiening, Max, Swietlik, Emilia M., Pandya, Divya, Burling, Keith, Barker, Peter, Feng, Oliver Y., Treacy, Carmen M., Abreu, Susana, Wort, S. John, Pepke-Zaba, Joanna, Graf, Stefan, Marciniak, Stefan J., Morrell, Nicholas W., Soon, Elaine
Publicado 2022

Severe Pulmonary Arterial Hypertension Is Characterized by Increased Neutrophil Elastase and Relative Elafin Deficiency

por Sweatt, Andrew J., Miyagawa, Kazuya, Rhodes, Christopher J., Taylor, Shalina, Del Rosario, Patricia A., Hsi, Andrew, Haddad, Francois, Spiekerkoetter, Edda, Bental-Roof, Michal, Bland, Richard D., Swietlik, Emilia M., Gräf, Stefan, Wilkins, Martin R., Morrell, Nicholas W., Nicolls, Mark R., Rabinovitch, Marlene, Zamanian, Roham T.
Publicado 2021

Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

por Ulrich, Anna, Wharton, John, Thayer, Timothy E., Swietlik, Emilia M., Assad, Tufik R., Desai, Ankit A., Gräf, Stefan, Harbaum, Lars, Humbert, Marc, Morrell, Nicholas W., Nichols, William C., Soubrier, Florent, Southgate, Laura, Trégouët, David-Alexandre, Trembath, Richard C., Brittain, Evan L., Wilkins, Martin R., Prokopenko, Inga, Rhodes, Christopher J.
Publicado 2020

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

por Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Juaregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Shen, Yufeng, Gräf, Stefan, Nichols, William C., Chung, Wendy K.
Publicado 2021

Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

por Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Shen, Yufeng, Gräf, Stefan, Nichols, William C., Chung, Wendy K.
Publicado 2021

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

por Carmody, Leigh C, Gargano, Michael A, Toro, Sabrina, Vasilevsky, Nicole A, Adam, Margaret P, Blau, Hannah, Chan, Lauren E, Gomez-Andres, David, Horvath, Rita, Kraus, Megan L, Ladewig, Markus S, Lewis-Smith, David, Lochmüller, Hanns, Matentzoglu, Nicolas A, Munoz-Torres, Monica C, Schuetz, Catharina, Seitz, Berthold, Similuk, Morgan N, Sparks, Teresa N, Strauss, Timmy, Swietlik, Emilia M, Thompson, Rachel, Zhang, Xingmin Aaron, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
Publicado 2023

Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome

por Rhodes, Christopher J., Otero-Núñez, Pablo, Wharton, John, Swietlik, Emilia M., Kariotis, Sokratis, Harbaum, Lars, Dunning, Mark J., Elinoff, Jason M., Errington, Niamh, Thompson, A. A. Roger, Iremonger, James, Coghlan, J. Gerry, Corris, Paul A., Howard, Luke S., Kiely, David G., Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen J., Desai, Ankit A., Humbert, Marc, Nichols, William C., Southgate, Laura, Trégouët, David-Alexandre, Trembath, Richard C., Prokopenko, Inga, Gräf, Stefan, Morrell, Nicholas W., Wang, Dennis, Lawrie, Allan
Publicado 2020

Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

por Kariotis, Sokratis, Jammeh, Emmanuel, Swietlik, Emilia M., Pickworth, Josephine A., Rhodes, Christopher J., Otero, Pablo, Wharton, John, Iremonger, James, Dunning, Mark J., Pandya, Divya, Mascarenhas, Thomas S., Errington, Niamh, Thompson, A. A. Roger, Romanoski, Casey E., Rischard, Franz, Garcia, Joe G. N., Yuan, Jason X.-J., An, Tae-Hwi Schwantes, Desai, Ankit A., Coghlan, Gerry, Lordan, Jim, Corris, Paul A., Howard, Luke S., Condliffe, Robin, Kiely, David G., Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R., Lawrie, Allan, Wang, Dennis
Publicado 2021

Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

por Kariotis, Sokratis, Jammeh, Emmanuel, Swietlik, Emilia M., Pickworth, Josephine A., Rhodes, Christopher J., Otero, Pablo, Wharton, John, Iremonger, James, Dunning, Mark J., Pandya, Divya, Mascarenhas, Thomas S., Errington, Niamh, Thompson, A. A. Roger, Romanoski, Casey E., Rischard, Franz, Garcia, Joe G. N., Yuan, Jason X.-J., An, Tae-Hwi Schwantes, Desai, Ankit A., Coghlan, Gerry, Lordan, Jim, Corris, Paul A., Howard, Luke S., Condliffe, Robin, Kiely, David G., Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R., Lawrie, Allan, Wang, Dennis
Publicado 2022

Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension

por Jones, Rowena J., De Bie, Eckart M. D. D., Groves, Emily, Zalewska, Kasia I., Swietlik, Emilia M., Treacy, Carmen M., Martin, Jennifer M., Polwarth, Gary, Li, Wei, Guo, Jingxu, Baxendale, Helen E., Coleman, Stephen, Savinykh, Natalia, Coghlan, J. Gerry, Corris, Paul A., Howard, Luke S., Johnson, Martin K., Church, Colin, Kiely, David G., Lawrie, Allan, Lordan, James L., Mackenzie Ross, Robert V., Pepke Zaba, Joanna, Wilkins, Martin R., Wort, S. John, Fiorillo, Edoardo, Orrù, Valeria, Cucca, Francesco, Rhodes, Christopher J., Gräf, Stefan, Morrell, Nicholas W., McKinney, Eoin F., Wallace, Chris, Toshner, Mark
Publicado 2022

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

por Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M., Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L., Chung, Wendy K., Berger, Rolf M. F., Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M. A., Kerstjens-Frederikse, Wilhelmina, Kiely, David G., Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J., Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A. A. Roger, Wharton, John, Wort, Stephen J., Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M., Martin, Jennifer M., Li, Wei, Swift, Andrew J., Upton, Paul D., Morrell, Nicholas W., Gräf, Stefan, Valverde, Diana
Publicado 2022

Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

por Swietlik, Emilia M., Greene, Daniel, Zhu, Na, Megy, Karyn, Cogliano, Marcella, Rajaram, Smitha, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Welch, Carrie C.L., Pauciulo, Michael W., Southgate, Laura, Martin, Jennifer M., Treacy, Carmen M., Penkett, Christopher J., Stephens, Jonathan C., Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Coleman, Anna W., Condliffe, Robin, Eichstaedt, Christina A., Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Grünig, Ekkehard, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Vonk Noordegraaf, Anton, Wharton, John, Wild, James M., Wort, Stephen John, Lawrie, Allan, Wilkins, Martin R., Trembath, Richard C., Shen, Yufeng, Chung, Wendy K., Swift, Andrew J., Nichols, William C., Morrell, Nicholas W., Gräf, Stefan
Publicado 2020

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

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

por Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe G N, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, MacKenzie Ross, Robert V, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, Wilkins, Martin R
Publicado 2019