ProteinArchitect: Protein Evolution above the Sequence Level

por Haimel, Matthias, Pröll, Karin, Rebhan, Michael
Publicado 2009

Thrombomodulin in patients with mild to moderate bleeding tendency

por Mehic, Dino, Tolios, Alexander, Hofer, Stefanie, Ay, Cihan, Haslacher, Helmuth, Downes, Kate, Haimel, Matthias, Pabinger, Ingrid, Gebhart, Johanna
Publicado 2021

HGVA: the Human Genome Variation Archive

por 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
Publicado 2017

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

por 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.
Publicado 2022

Next-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia

por 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.
Publicado 2013

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

por Maassen, Willem, Legger, Geertje, Kul Cinar, Ovgu, van Daele, Paul, Gattorno, Marco, Bader-Meunier, Brigitte, Wouters, Carine, Briggs, Tracy, Johansson, Lennart, van der Velde, Joeri, Swertz, Morris, Omoyinmi, Ebun, Hoppenreijs, Esther, Belot, Alexandre, Eleftheriou, Despina, Caorsi, Roberta, Aeschlimann, Florence, Boursier, Guilaine, Brogan, Paul, Haimel, Matthias, van Gijn, Marielle
Publicado 2023

Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension

por 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.
Publicado 2017

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

por Machado, Rajiv D, Welch, Carrie L, Haimel, Matthias, Bleda, Marta, Colglazier, Elizabeth, Coulson, John D, Debeljak, Marusa, Ekstein, Josef, Fineman, Jeffrey R, Golden, William Christopher, Griffin, Emily L, Hadinnapola, Charaka, Harris, Michael A, Hirsch, Yoel, Hoover-Fong, Julie Elizabeth, Nogee, Lawrence, Romer, Lewis H, Vesel, Samo, Gräf, Stefan, Morrell, Nicholas W, Southgate, Laura, Chung, Wendy K
Publicado 2022

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

por 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
Publicado 2022

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

por 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
Publicado 2022

The Human Phenotype Ontology in 2021

por 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
Publicado 2020

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

por 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
Publicado 2017

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

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

por 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
Publicado 2016

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

por Bradnam, Keith R, Fass, Joseph N, Alexandrov, Anton, Baranay, Paul, Bechner, Michael, Birol, Inanç, Boisvert, Sébastien, Chapman, Jarrod A, Chapuis, Guillaume, Chikhi, Rayan, Chitsaz, Hamidreza, Chou, Wen-Chi, Corbeil, Jacques, Del Fabbro, Cristian, Docking, T Roderick, Durbin, Richard, Earl, Dent, Emrich, Scott, Fedotov, Pavel, Fonseca, Nuno A, Ganapathy, Ganeshkumar, Gibbs, Richard A, Gnerre, Sante, Godzaridis, Élénie, Goldstein, Steve, Haimel, Matthias, Hall, Giles, Haussler, David, Hiatt, Joseph B, Ho, Isaac Y, Howard, Jason, Hunt, Martin, Jackman, Shaun D, Jaffe, David B, Jarvis, Erich D, Jiang, Huaiyang, Kazakov, Sergey, Kersey, Paul J, Kitzman, Jacob O, Knight, James R, Koren, Sergey, Lam, Tak-Wah, Lavenier, Dominique, Laviolette, François, Li, Yingrui, Li, Zhenyu, Liu, Binghang, Liu, Yue, Luo, Ruibang, MacCallum, Iain, MacManes, Matthew D, Maillet, Nicolas, Melnikov, Sergey, Naquin, Delphine, Ning, Zemin, Otto, Thomas D, Paten, Benedict, Paulo, Octávio S, Phillippy, Adam M, Pina-Martins, Francisco, Place, Michael, Przybylski, Dariusz, Qin, Xiang, Qu, Carson, Ribeiro, Filipe J, Richards, Stephen, Rokhsar, Daniel S, Ruby, J Graham, Scalabrin, Simone, Schatz, Michael C, Schwartz, David C, Sergushichev, Alexey, Sharpe, Ted, Shaw, Timothy I, Shendure, Jay, Shi, Yujian, Simpson, Jared T, Song, Henry, Tsarev, Fedor, Vezzi, Francesco, Vicedomini, Riccardo, Vieira, Bruno M, Wang, Jun, Worley, Kim C, Yin, Shuangye, Yiu, Siu-Ming, Yuan, Jianying, Zhang, Guojie, Zhang, Hao, Zhou, Shiguo, Korf, Ian F
Publicado 2013

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