Genome-wide analysis yields new loci associating with aortic valve stenosis

por Helgadottir, Anna, Thorleifsson, Gudmar, Gretarsdottir, Solveig, Stefansson, Olafur A., Tragante, Vinicius, Thorolfsdottir, Rosa B., Jonsdottir, Ingileif, Bjornsson, Thorsteinn, Steinthorsdottir, Valgerdur, Verweij, Niek, Nielsen, Jonas B., Zhou, Wei, Folkersen, Lasse, Martinsson, Andreas, Heydarpour, Mahyar, Prakash, Siddharth, Oskarsson, Gylfi, Gudbjartsson, Tomas, Geirsson, Arnar, Olafsson, Isleifur, Sigurdsson, Emil L., Almgren, Peter, Melander, Olle, Franco-Cereceda, Anders, Hamsten, Anders, Fritsche, Lars, Lin, Maoxuan, Yang, Bo, Hornsby, Whitney, Guo, Dongchuan, Brummett, Chad M., Abecasis, Gonçalo, Mathis, Michael, Milewicz, Dianna, Body, Simon C., Eriksson, Per, Willer, Cristen J., Hveem, Kristian, Newton-Cheh, Christopher, Smith, J. Gustav, Danielsen, Ragnar, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Holm, Hilma, Stefansson, Kari
Publicado 2018

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

por Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
Publicado 2021

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

por Bjornsdottir, Gyda, Stefansdottir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkarsdottir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ostrowski, Sisse R., Ullum, Henrik, Thorsteinsdottir, Unnur, Stefansson, Hreinn, Gudbjartsson, Daniel F., Thorgeirsson, Thorgeir E., Stefansson, Kari
Publicado 2022

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

por Bjornsdottir, Gyda, Stefansdottir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkarsdottir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ostrowski, Sisse R., Ullum, Henrik, Thorsteinsdottir, Unnur, Stefansson, Hreinn, Gudbjartsson, Daniel F., Thorgeirsson, Thorgeir E., Stefansson, Kari
Publicado 2022

Multiomics study of nonalcoholic fatty liver disease

por Sveinbjornsson, Gardar, Ulfarsson, Magnus O., Thorolfsdottir, Rosa B., Jonsson, Benedikt A., Einarsson, Eythor, Gunnlaugsson, Gylfi, Rognvaldsson, Solvi, Arnar, David O., Baldvinsson, Magnus, Bjarnason, Ragnar G., Eiriksdottir, Thjodbjorg, Erikstrup, Christian, Ferkingstad, Egil, Halldorsson, Gisli H., Helgason, Hannes, Helgadottir, Anna, Hindhede, Lotte, Hjorleifsson, Grimur, Jones, David, Knowlton, Kirk U., Lund, Sigrun H., Melsted, Pall, Norland, Kristjan, Olafsson, Isleifur, Olafsson, Sigurdur, Oskarsson, Gudjon R., Ostrowski, Sisse Rye, Pedersen, Ole Birger, Snaebjarnarson, Auðunn S., Sigurdsson, Emil, Steinthorsdottir, Valgerdur, Schwinn, Michael, Thorgeirsson, Gudmundur, Thorleifsson, Gudmar, Jonsdottir, Ingileif, Bundgaard, Henning, Nadauld, Lincoln, Bjornsson, Einar S., Rulifson, Ingrid C., Rafnar, Thorunn, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, Gudbjartsson, Daniel F., Holm, Hilma, Stefansson, Kari
Publicado 2022

ALPPS for Locally Advanced Intrahepatic Cholangiocarcinoma: Did Aggressive Surgery Lead to the Oncological Benefit? An International Multi-center Study

por Li, Jun, Moustafa, Mohamed, Linecker, Michael, Lurje, Georg, Capobianco, Ivan, Baumgart, Janine, Ratti, Francesca, Rauchfuss, Falk, Balci, Deniz, Fernandes, Eduardo, Montalti, Roberto, Robles-Campos, Ricardo, Bjornsson, Bergthor, Topp, Stefan A., Fronek, Jiri, Liu, Chao, Wahba, Roger, Bruns, Christiane, Brunner, Stefan M., Schlitt, Hans J., Heumann, Asmus, Stüben, Björn-Ole, Izbicki, Jakob R., Bednarsch, Jan, Gringeri, Enrico, Fasolo, Elisa, Rolinger, Jens, Kristek, Jakub, Hernandez-Alejandro, Roberto, Schnitzbauer, Andreas, Nuessler, Natascha, Schön, Michael R., Voskanyan, Sergey, Petrou, Athanasios S., Hahn, Oszkar, Soejima, Yuji, Vicente, Emilio, Castro-Benitez, Carlos, Adam, René, Tomassini, Federico, Troisi, Roberto Ivan, Kantas, Alexandros, Oldhafer, Karl Juergen, Ardiles, Victoria, de Santibanes, Eduardo, Malago, Massimo, Clavien, Pierre-Alain, Vivarelli, Marco, Settmacher, Utz, Aldrighetti, Luca, Neumann, Ulf, Petrowsky, Henrik, Cillo, Umberto, Lang, Hauke, Nadalin, Silvio
Publicado 2020

Minimally invasive versus open distal pancreatectomy for pancreatic ductal adenocarcinoma (DIPLOMA): study protocol for a randomized controlled trial

por van Hilst, Jony, Korrel, Maarten, Lof, Sanne, de Rooij, Thijs, Vissers, Frederique, Al-Sarireh, Bilal, Alseidi, Adnan, Bateman, Adrian C., Björnsson, Bergthor, Boggi, Ugo, Bratlie, Svein Olav, Busch, Olivier, Butturini, Giovanni, Casadei, Riccardo, Dijk, Frederike, Dokmak, Safi, Edwin, Bjorn, van Eijck, Casper, Esposito, Alessandro, Fabre, Jean-Michel, Falconi, Massimo, Ferrari, Giovanni, Fuks, David, Groot Koerkamp, Bas, Hackert, Thilo, Keck, Tobias, Khatkov, Igor, de Kleine, Ruben, Kokkola, Arto, Kooby, David A., Lips, Daan, Luyer, Misha, Marudanayagam, Ravi, Menon, Krishna, Molenaar, Quintus, de Pastena, Matteo, Pietrabissa, Andrea, Rajak, Rushda, Rosso, Edoardo, Sanchez Velazquez, Patricia, Saint Marc, Olivier, Shah, Mihir, Soonawalla, Zahir, Tomazic, Ales, Verbeke, Caroline, Verheij, Joanne, White, Steven, Wilmink, Hanneke W., Zerbi, Alessandro, Dijkgraaf, Marcel G., Besselink, Marc G., Abu Hilal, Mohammad
Publicado 2021

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

por Anttila, Verneri, Stefansson, Hreinn, Kallela, Mikko, Todt, Unda, Terwindt, Gisela M, Calafato, M Stella, Nyholt, Dale R, Dimas, Antigone S, Freilinger, Tobias, Müller-Myhsok, Bertram, Artto, Ville, Inouye, Michael, Alakurtti, Kirsi, Kaunisto, Mari A, Hämäläinen, Eija, de Vries, Boukje, Stam, Anine H, Weller, Claudia M, Heinze, Axel, Heinze-Kuhn, Katja, Goebel, Ingrid, Borck, Guntram, Göbel, Hartmut, Steinberg, Stacy, Wolf, Christiane, Björnsson, Asgeir, Gudmundsson, Gretar, Kirchmann, Malene, Hauge, Anne, Werge, Thomas, Schoenen, Jean, Eriksson, Johan G, Hagen, Knut, Stovner, Lars, Wichmann, H-Erich, Meitinger, Thomas, Alexander, Michael, Moebus, Susanne, Schreiber, Stefan, Aulchenko, Yurii S, Breteler, Monique M B, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Tikka-Kleemola, Päivi, Vepsäläinen, Salli, Lucae, Susanne, Tozzi, Federica, Muglia, Pierandrea, Barrett, Jeffrey, Kaprio, Jaakko, Färkkilä, Markus, Peltonen, Leena, Stefansson, Kari, Zwart, John-Anker, Ferrari, Michel D, Olesen, Jes, Daly, Mark, Wessman, Maija, van den Maagdenberg, Arn M J M, Dichgans, Martin, Kubisch, Christian, Dermitzakis, Emmanouil T, Frants, Rune R, Palotie, Aarno
Publicado 2010

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

por Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna
Publicado 2022

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

por Liu, Jimmy Z., Hov, Johannes Roksund, Folseraas, Trine, Ellinghaus, Eva, Rushbrook, Simon M., Doncheva, Nadezhda T., Andreassen, Ole A., Weersma, Rinse K., Weismüller, Tobias J., Eksteen, Bertus, Invernizzi, Pietro, Hirschfield, Gideon M., Gotthardt, Daniel Nils, Pares, Albert, Ellinghaus, David, Shah, Tejas, Juran, Brian D., Milkiewicz, Piotr, Rust, Christian, Schramm, Christoph, Müller, Tobias, Srivastava, Brijesh, Dalekos, Georgios, Nöthen, Markus M., Herms, Stefan, Winkelmann, Juliane, Mitrovic, Mitja, Braun, Felix, Ponsioen, Cyriel Y., Croucher, Peter J. P., Sterneck, Martina, Teufel, Andreas, Mason, Andrew L., Saarela, Janna, Leppa, Virpi, Dorfman, Ruslan, Alvaro, Domenico, Floreani, Annarosa, Onengut-Gumuscu, Suna, Rich, Stephen S., Thompson, Wesley K., Schork, Andrew J., Næss, Sigrid, Thomsen, Ingo, Mayr, Gabriele, König, Inke R., Hveem, Kristian, Cleynen, Isabelle, Gutierrez-Achury, Javier, Ricaño-Ponce, Isis, van Heel, David, Björnsson, Einar, Sandford, Richard N., Durie, Peter R., Melum, Espen, Vatn, Morten H, Silverberg, Mark S., Duerr, Richard H., Padyukov, Leonid, Brand, Stephan, Sans, Miquel, Annese, Vito, Achkar, Jean-Paul, Boberg, Kirsten Muri, Marschall, Hanns-Ulrich, Chazouillères, Olivier, Bowlus, Christopher L., Wijmenga, Cisca, Schrumpf, Erik, Vermeire, Severine, Albrecht, Mario, Rioux, John D., Alexander, Graeme, Bergquist, Annika, Cho, Judy, Schreiber, Stefan, Manns, Michael P., Färkkilä, Martti, Dale, Anders M., Chapman, Roger W., Lazaridis, Konstantinos N., Franke, Andre, Anderson, Carl A., Karlsen, Tom H.
Publicado 2013

Dragon 1 Protocol Manuscript: Training, Accreditation, Implementation and Safety Evaluation of Portal and Hepatic Vein Embolization (PVE/HVE) to Accelerate Future Liver Remnant (FL...

por Korenblik, R., Olij, B., Aldrighetti, L. A., Hilal, M. Abu, Ahle, M., Arslan, B., van Baardewijk, L. J., Baclija, I., Bent, C., Bertrand, C. L., Björnsson, B., de Boer, M. T., de Boer, S. W., Bokkers, R. P. H., Rinkes, I. H. M. Borel, Breitenstein, S., Bruijnen, R. C. G., Bruners, P., Büchler, M. W., Camacho, J. C., Cappelli, A., Carling, U., Chan, B. K. Y., Chang, D. H., choi, J., Font, J. Codina, Crawford, M., Croagh, D., Cugat, E., Davis, R., De Boo, D. W., De Cobelli, F., De Wispelaere, J. F., van Delden, O. M., Delle, M., Detry, O., Díaz-Nieto, R., Dili, A., Erdmann, J. I., Fisher, O., Fondevila, C., Fretland, Å., Borobia, F. Garcia, Gelabert, A., Gérard, L., Giuliante, F., Gobardhan, P. D., Gómez, F., Grünberger, T., Grünhagen, D. J., Guitart, J., Hagendoorn, J., Heil, J., Heise, D., Herrero, E., Hess, G. F., Hoffmann, M. H., Iezzi, R., Imani, F., Nguyen, J., Jovine, E., Kalff, J. C., Kazemier, G., Kingham, T. P., Kleeff, J., Kollmar, O., Leclercq, W. K. G., Ben, S. Lopez, Lucidi, V., MacDonald, A., Madoff, D. C., Manekeller, S., Martel, G., Mehrabi, A., Mehrzad, H., Meijerink, M. R., Menon, K., Metrakos, P., Meyer, C., Moelker, A., Modi, S., Montanari, N., Navines, J., Neumann, U. P., Peddu, P., Primrose, J. N., Qu, X., Raptis, D., Ratti, F., Ridouani, F., Rogan, C., Ronellenfitsch, U., Ryan, S., Sallemi, C., Moragues, J. Sampere, Sandström, P., Sarriá, L., Schnitzbauer, A., Serenari, M., Serrablo, A., Smits, M. L. J., Sparrelid, E., Spüntrup, E., Stavrou, G. A., Sutcliffe, R. P., Tancredi, I., Tasse, J. C., Udupa, V., Valenti, D., Fundora, Y., Vogl, T. J., Wang, X., White, S. A., Wohlgemuth, W. A., Yu, D., Zijlstra, I. A. J., Binkert, C. A., Bemelmans, M. H. A., van der Leij, C., Schadde, E., van Dam, R. M.
Publicado 2022

Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease

por Hollingworth, Paul, Harold, Denise, Sims, Rebecca, Gerrish, Amy, Lambert, Jean-Charles, Carrasquillo, Minerva M, Abraham, Richard, Hamshere, Marian L, Pahwa, Jaspreet Singh, Moskvina, Valentina, Dowzell, Kimberley, Jones, Nicola, Stretton, Alexandra, Thomas, Charlene, Richards, Alex, Ivanov, Dobril, Widdowson, Caroline, Chapman, Jade, Lovestone, Simon, Powell, John, Proitsi, Petroula, Lupton, Michelle K, Brayne, Carol, Rubinsztein, David C, Gill, Michael, Lawlor, Brian, Lynch, Aoibhinn, Brown, Kristelle S, Passmore, Peter A, Craig, David, McGuinness, Bernadette, Todd, Stephen, Holmes, Clive, Mann, David, Smith, A David, Beaumont, Helen, Warden, Donald, Wilcock, Gordon, Love, Seth, Kehoe, Patrick G, Hooper, Nigel M, Vardy, Emma R. L. C., Hardy, John, Mead, Simon, Fox, Nick C, Rossor, Martin, Collinge, John, Maier, Wolfgang, Jessen, Frank, Schürmann, Britta, Rüther, Eckart, Heun, Reiner, Kölsch, Heike, van den Bussche, Hendrik, Heuser, Isabella, Kornhuber, Johannes, Wiltfang, Jens, Dichgans, Martin, Frölich, Lutz, Hampel, Harald, Hüll, Michael, Gallacher, John, Rujescu, Dan, Giegling, Ina, Goate, Alison M, Kauwe, John S K, Cruchaga, Carlos, Nowotny, Petra, Morris, John C, Mayo, Kevin, Sleegers, Kristel, Bettens, Karolien, Engelborghs, Sebastiaan, De Deyn, Peter P, Van Broeckhoven, Christine, Livingston, Gill, Bass, Nicholas J, Gurling, Hugh, McQuillin, Andrew, Gwilliam, Rhian, Deloukas, Panagiotis, Al-Chalabi, Ammar, Shaw, Christopher E, Tsolaki, Magda, Singleton, Andrew B, Guerreiro, Rita, Mühleisen, Thomas W, Nöthen, Markus M, Moebus, Susanne, Jöckel, Karl-Heinz, Klopp, Norman, Wichmann, H-Erich, Pankratz, V Shane, Sando, Sigrid B, Aasly, Jan O, Barcikowska, Maria, Wszolek, Zbigniew K, Dickson, Dennis W, Graff-Radford, Neill R, Petersen, Ronald C, van Duijn, Cornelia M, Breteler, Monique MB, Ikram, M Arfan, DeStefano, Anita L, Fitzpatrick, Annette L, Lopez, Oscar, Launer, Lenore J, Seshadri, Sudha, Berr, Claudine, Campion, Dominique, Epelbaum, Jacques, Dartigues, Jean-François, Tzourio, Christophe, Alpérovitch, Annick, Lathrop, Mark, Feulner, Thomas M, Friedrich, Patricia, Riehle, Caterina, Krawczak, Michael, Schreiber, Stefan, Mayhaus, Manuel, Nicolhaus, S, Wagenpfeil, Stefan, Steinberg, Stacy, Stefansson, Hreinn, Stefansson, Kari, Snædal, Jon, Björnsson, Sigurbjörn, Jonsson, Palmi V., Chouraki, Vincent, Genier-Boley, Benjamin, Hiltunen, Mikko, Soininen, Hilkka, Combarros, Onofre, Zelenika, Diana, Delepine, Marc, Bullido, Maria J, Pasquier, Florence, Mateo, Ignacio, Frank-Garcia, Ana, Porcellini, Elisa, Hanon, Olivier, Coto, Eliecer, Alvarez, Victoria, Bosco, Paolo, Siciliano, Gabriele, Mancuso, Michelangelo, Panza, Francesco, Solfrizzi, Vincenzo, Nacmias, Benedetta, Sorbi, Sandro, Bossù, Paola, Piccardi, Paola, Arosio, Beatrice, Annoni, Giorgio, Seripa, Davide, Pilotto, Alberto, Scarpini, Elio, Galimberti, Daniela, Brice, Alexis, Hannequin, Didier, Licastro, Federico, Jones, Lesley, Holmans, Peter A, Jonsson, Thorlakur, Riemenschneider, Matthias, Morgan, Kevin, Younkin, Steven G, Owen, Michael J, O’Donovan, Michael, Amouyel, Philippe, Williams, Julie
Publicado 2011