Search Results - Haimel, Matthias

ProteinArchitect: Protein Evolution above the Sequence Level by Haimel, Matthias, Pröll, Karin, Rebhan, Michael

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Thrombomodulin in patients with mild to moderate bleeding tendency by Mehic, Dino, Tolios, Alexander, Hofer, Stefanie, Ay, Cihan, Haslacher, Helmuth, Downes, Kate, Haimel, Matthias, Pabinger, Ingrid, Gebhart, Johanna

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Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency by Mehic, Dino, Tolios, Alexander, Hofer, Stefanie, Ay, Cihan, Haslacher, Helmuth, Rejtö, Judit, Ouwehand, Willem H., Downes, Kate, Haimel, Matthias, Pabinger, Ingrid, Gebhart, Johanna

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HGVA: the Human Genome Variation Archive by Lopez, Javier, Coll, Jacobo, Haimel, Matthias, Kandasamy, Swaathi, Tarraga, Joaquin, Furio-Tari, Pedro, Bari, Wasim, Bleda, Marta, Rueda, Antonio, Gräf, Stefan, Rendon, Augusto, Dopazo, Joaquin, Medina, Ignacio

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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing by Danis, Daniel, Jacobsen, Julius O. B., Balachandran, Parithi, Zhu, Qihui, Yilmaz, Feyza, Reese, Justin, Haimel, Matthias, Lyon, Gholson J., Helbig, Ingo, Mungall, Christopher J., Beck, Christine R., Lee, Charles, Smedley, Damian, Robinson, Peter N.

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Next-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia by Watson-Haigh, Nathan S., Shang, Catherine A., Haimel, Matthias, Kostadima, Myrto, Loos, Remco, Deshpande, Nandan, Duesing, Konsta, Li, Xi, McGrath, Annette, McWilliam, Sean, Michnowicz, Simon, Moolhuijzen, Paula, Quenette, Steve, Revote, Jerico Nico De Leon, Tyagi, Sonika, Schneider, Maria V.

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Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension by Rhodes, Christopher J., Ghataorhe, Pavandeep, Wharton, John, Rue-Albrecht, Kevin C., Hadinnapola, Charaka, Watson, Geoffrey, Bleda, Marta, Haimel, Matthias, Coghlan, Gerry, Corris, Paul A., Howard, Luke S., Kiely, David G., Peacock, Andrew J., Pepke-Zaba, Joanna, Toshner, Mark R., Wort, S. John, Gibbs, J. Simon R., Lawrie, Allan, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R.

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The cytoskeletal regulator HEM1 governs B-cell development and prevents autoimmunity by Salzer, Elisabeth, Zoghi, Samaneh, Kiss, Máté G., Kage, Frieda, Rashkova, Christina, Stahnke, Stephanie, Haimel, Matthias, Platzer, René, Caldera, Michael, Ardy, Rico Chandra, Hoeger, Birgit, Block, Jana, Medgyesi, David, Sin, Celine, Shahkarami, Sepideh, Kain, Renate, Ziaee, Vahid, Hammerl, Peter, Bock, Christoph, Menche, Jörg, Dupré, Loïc, Huppa, Johannes B., Sixt, Michael, Lomakin, Alexis, Rottner, Klemens, Binder, Christoph J., Stradal, Theresia E.B., Rezaei, Nima, Boztug, Kaan

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Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation by Shahin, Tala, Mayr, Daniel, Shoeb, Mohamed R., Kuehn, Hye Sun, Hoeger, Birgit, Giuliani, Sarah, Gawriyski, Lisa M., Petronczki, Özlem Yüce, Hadjadj, Jérôme, Bal, Sevgi Köstel, Zoghi, Samaneh, Haimel, Matthias, Jimenez Heredia, Raul, Boutboul, David, Triebwasser, Michael P., Rialland-Battisti, Fanny, Costedoat Chalumeau, Nathalie, Quartier, Pierre, Tangye, Stuart G., Fleisher, Thomas A., Rezaei, Nima, Romberg, Neil, Latour, Sylvain, Varjosalo, Markku, Halbritter, Florian, Rieux-Laucat, Frédéric, Castanon, Irinka, Rosenzweig, Sergio D., Boztug, Kaan

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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders by Downes, Kate, Megy, Karyn, Duarte, Daniel, Vries, Minka, Gebhart, Johanna, Hofer, Stefanie, Shamardina, Olga, Deevi, Sri V. V., Stephens, Jonathan, Mapeta, Rutendo, Tuna, Salih, Al Hasso, Namir, Besser, Martin W., Cooper, Nichola, Daugherty, Louise, Gleadall, Nick, Greene, Daniel, Haimel, Matthias, Martin, Howard, Papadia, Sofia, Revel-Vilk, Shoshana, Sivapalaratnam, Suthesh, Symington, Emily, Thomas, Will, Thys, Chantal, Tolios, Alexander, Penkett, Christopher J., Ouwehand, Willem H., Abbs, Stephen, Laffan, Michael A., Turro, Ernest, Simeoni, Ilenia, Mumford, Andrew D., Henskens, Yvonne M. C., Pabinger, Ingrid, Gomez, Keith, Freson, Kathleen

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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity by Haimel, Matthias, Pazmandi, Julia, Heredia, Raú Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A. A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan

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Phenotypic characterisation of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with pulmonary arterial hypertension by Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D, Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Machado, Rajiv, Ross, Robert MacKenzie, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R, Wort, Stephen J, Wharton, John, Gräf, Stefan, Morrell, Nicholas W.

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Loss of Function ABCC8 Mutations in Pulmonary Arterial Hypertension by Bohnen, Michael S., Ma, Lijiang, Zhu, Na, Qi, Hongjian, McClenaghan, Conor, Gonzaga-Jauregui, Claudia, Dewey, Frederick E., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Baras, Aris, Sampson, Kevin J., Bleda, Marta, Hadinnapola, Charaka, Haimel, Matthias, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Corris, Paul A., Eyries, Mélanie, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Humbert, Marc, Guignabert, Christophe, Kiely, David G., Lawrie, Allan, MacKenzie Ross, Rob V., Martin, Jennifer M., Montani, David, Peacock, Andrew J., Pepke-Zaba, Joanna, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark, Treacy, Carmen M., Trembath, Richard C., Vonk Noordegraaf, Anton, Wharton, John, Wilkins, Martin R., Wort, Stephen J., Yates, Katherine, Gräf, Stefan, Morrell, Nicholas W., Krishnan, Usha, Rosenzweig, Erika B., Shen, Yufeng, Nichols, Colin G., Kass, Robert S., Chung, Wendy K.

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The Human Phenotype Ontology in 2021 by Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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Platelet function is modified by common sequence variation in megakaryocyte super enhancers by Petersen, Romina, Lambourne, John J., Javierre, Biola M., Grassi, Luigi, Kreuzhuber, Roman, Ruklisa, Dace, Rosa, Isabel M., Tomé, Ana R., Elding, Heather, van Geffen, Johanna P., Jiang, Tao, Farrow, Samantha, Cairns, Jonathan, Al-Subaie, Abeer M., Ashford, Sofie, Attwood, Antony, Batista, Joana, Bouman, Heleen, Burden, Frances, Choudry, Fizzah A., Clarke, Laura, Flicek, Paul, Garner, Stephen F., Haimel, Matthias, Kempster, Carly, Ladopoulos, Vasileios, Lenaerts, An-Sofie, Materek, Paulina M., McKinney, Harriet, Meacham, Stuart, Mead, Daniel, Nagy, Magdolna, Penkett, Christopher J., Rendon, Augusto, Seyres, Denis, Sun, Benjamin, Tuna, Salih, van der Weide, Marie-Elise, Wingett, Steven W., Martens, Joost H., Stegle, Oliver, Richardson, Sylvia, Vallier, Ludovic, Roberts, David J., Freson, Kathleen, Wernisch, Lorenz, Stunnenberg, Hendrik G., Danesh, John, Fraser, Peter, Soranzo, Nicole, Butterworth, Adam S., Heemskerk, Johan W., Turro, Ernest, Spivakov, Mikhail, Ouwehand, Willem H., Astle, William J., Downes, Kate, Kostadima, Myrto, Frontini, Mattia

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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension by Hodgson, Joshua, Swietlik, Emilia M., Salmon, Richard M., Hadinnapola, Charaka, Nikolic, Ivana, Wharton, John, Guo, Jingxu, Liley, James, Haimel, Matthias, Bleda, Marta, Southgate, Laura, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, 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, Lawrie, Allan, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Olschewski, Andrea, Olschewski, Horst, Ouwehand, Willem H., Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Trembath, Richard C., Noordegraaf, Anton Vonk, Wort, Stephen J., Wilkins, Martin R., Yu, Paul B., Li, Wei, Gräf, Stefan, Upton, Paul D., Morrell, Nicholas W.

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension by 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.

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Whole-genome sequencing of patients with rare diseases in a national health system by Turro, Ernest, Astle, William J, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S, Downes, Kate, Haimel, Matthias, Tuna, Salih, Aitman, Timothy J, Bennett, David L, Calleja, Paul, Carss, Keren, Caulfield, Mark J, Chinnery, Patrick F, Dixon, Peter H, Gale, Daniel P, James, Roger, Koziell, Ania, Laffan, Michael A, Levine, Adam P, Maher, Eamonn R, Markus, Hugh S, Morales, Joannella, Morrell, Nicholas W, Mumford, Andrew D, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B, Saleem, Moin A, Smith, Kenneth G C, Stark, Hannah, Tan, Rhea Y Y, Themistocleous, Andreas C, Thrasher, Adrian J, Watkins, Hugh, Webster, Andrew R, Wilkins, Martin R, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R, Kingston, Nathalie, Walker, Neil, Bradley, John R, Ashford, Sofie, Penkett, Christopher J, Freson, Kathleen, Stirrups, Kathleen E, Raymond, F Lucy, Ouwehand, Willem H

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Assemblathon 1: A competitive assessment of de novo short read assembly methods by Earl, Dent, Bradnam, Keith, St. John, John, Darling, Aaron, Lin, Dawei, Fass, Joseph, Yu, Hung On Ken, Buffalo, Vince, Zerbino, Daniel R., Diekhans, Mark, Nguyen, Ngan, Ariyaratne, Pramila Nuwantha, Sung, Wing-Kin, Ning, Zemin, Haimel, Matthias, Simpson, Jared T., Fonseca, Nuno A., Birol, İnanç, Docking, T. Roderick, Ho, Isaac Y., Rokhsar, Daniel S., Chikhi, Rayan, Lavenier, Dominique, Chapuis, Guillaume, Naquin, Delphine, Maillet, Nicolas, Schatz, Michael C., Kelley, David R., Phillippy, Adam M., Koren, Sergey, Yang, Shiaw-Pyng, Wu, Wei, Chou, Wen-Chi, Srivastava, Anuj, Shaw, Timothy I., Ruby, J. Graham, Skewes-Cox, Peter, Betegon, Miguel, Dimon, Michelle T., Solovyev, Victor, Seledtsov, Igor, Kosarev, Petr, Vorobyev, Denis, Ramirez-Gonzalez, Ricardo, Leggett, Richard, MacLean, Dan, Xia, Fangfang, Luo, Ruibang, Li, Zhenyu, Xie, Yinlong, Liu, Binghang, Gnerre, Sante, MacCallum, Iain, Przybylski, Dariusz, Ribeiro, Filipe J., Yin, Shuangye, Sharpe, Ted, Hall, Giles, Kersey, Paul J., Durbin, Richard, Jackman, Shaun D., Chapman, Jarrod A., Huang, Xiaoqiu, DeRisi, Joseph L., Caccamo, Mario, Li, Yingrui, Jaffe, David B., Green, Richard E., Haussler, David, Korf, Ian, Paten, Benedict

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The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease by Astle, William J., Elding, Heather, Jiang, Tao, Allen, Dave, Ruklisa, Dace, Mann, Alice L., Mead, Daniel, Bouman, Heleen, Riveros-Mckay, Fernando, Kostadima, Myrto A., Lambourne, John J., Sivapalaratnam, Suthesh, Downes, Kate, Kundu, Kousik, Bomba, Lorenzo, Berentsen, Kim, Bradley, John R., Daugherty, Louise C., Delaneau, Olivier, Freson, Kathleen, Garner, Stephen F., Grassi, Luigi, Guerrero, Jose, Haimel, Matthias, Janssen-Megens, Eva M., Kaan, Anita, Kamat, Mihir, Kim, Bowon, Mandoli, Amit, Marchini, Jonathan, Martens, Joost H.A., Meacham, Stuart, Megy, Karyn, O’Connell, Jared, Petersen, Romina, Sharifi, Nilofar, Sheard, Simon M., Staley, James R., Tuna, Salih, van der Ent, Martijn, Walter, Klaudia, Wang, Shuang-Yin, Wheeler, Eleanor, Wilder, Steven P., Iotchkova, Valentina, Moore, Carmel, Sambrook, Jennifer, Stunnenberg, Hendrik G., Di Angelantonio, Emanuele, Kaptoge, Stephen, Kuijpers, Taco W., Carrillo-de-Santa-Pau, Enrique, Juan, David, Rico, Daniel, Valencia, Alfonso, Chen, Lu, Ge, Bing, Vasquez, Louella, Kwan, Tony, Garrido-Martín, Diego, Watt, Stephen, Yang, Ying, Guigo, Roderic, Beck, Stephan, Paul, Dirk S., Pastinen, Tomi, Bujold, David, Bourque, Guillaume, Frontini, Mattia, Danesh, John, Roberts, David J., Ouwehand, Willem H., Butterworth, Adam S., Soranzo, Nicole

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