TAFFEL: Independent Enrichment Analysis of gene sets

Por Kurki, Mitja I, Paananen, Jussi, Storvik, Markus, Ylä-Herttuala, Seppo, Jääskeläinen, Juha E, von und zu Fraunberg, Mikael, Wong, Garry, Pehkonen, Petri
Publicado em 2011

Type 2 Diabetes and Risk of Rupture of Saccular Intracranial Aneurysm in Eastern Finland

Por Lindgren, Antti E., Kurki, Mitja I., Riihinen, Annamaija, Koivisto, Timo, Ronkainen, Antti, Rinne, Jaakko, Hernesniemi, Juha, Eriksson, Johan G., Jääskeläinen, Juha E., von und zu Fraunberg, Mikael
Publicado em 2013

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Por Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki
Publicado no Am J Hum Genet (2016)

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Por Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny
Publicado no Am J Hum Genet (2016)

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Por Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny
Publicado no Am J Hum Genet (2017)

High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms

Por Kurki, Mitja I., Gaál, Emília Ilona, Kettunen, Johannes, Lappalainen, Tuuli, Menelaou, Androniki, Anttila, Verneri, van 't Hof, Femke N. G., von und zu Fraunberg, Mikael, Helisalmi, Seppo, Hiltunen, Mikko, Lehto, Hanna, Laakso, Aki, Kivisaari, Riku, Koivisto, Timo, Ronkainen, Antti, Rinne, Jaakko, Kiemeney, Lambertus A. L., Vermeulen, Sita H., Kaunisto, Mari A., Eriksson, Johan G., Aromaa, Arpo, Perola, Markus, Lehtimäki, Terho, Raitakari, Olli T., Salomaa, Veikko, Gunel, Murat, Dermitzakis, Emmanouil T., Ruigrok, Ynte M., Rinkel, Gabriel J. E., Niemelä, Mika, Hernesniemi, Juha, Ripatti, Samuli, de Bakker, Paul I. W., Palotie, Aarno, Jääskeläinen, Juha E.
Publicado em 2014

GENOME-WIDE ASSOCIATION STUDY OF INTRACRANIAL ANEURYSM IDENTIFIES A NEW ASSOCIATION ON CHROMOSOME 7

Por Foroud, Tatiana, Lai, Dongbing, Koller, Daniel, van’t Hof, Femke, Kurki, Mitja I., Anderson, Craig S., Brown, Robert D., Connolly, E. Sander, Eriksson, Johan G., Flaherty, Matthew, Fornage, Myriam, von und zuFraunberg, Mikael, Gaál, Emília I., Laakso, Aki, Hernesniemi, Juha, Huston, John, Jääskeläinen, Juha E, Kiemeney, Lambertus A., Kivisaari, Riku, Kleindorfer, Dawn, Ko, Nerissa, Lehto, Hanna, Mackey, Jason, Meissner, Irene, Moomaw, Charles J., Mosley, Thomas H., Moskala, Marek, Niemelä, Mika, Palotie, Aarno, Pera, Joanna, Rinkel, Gabriel, Ripke, Stephan, Rouleau, Guy, Ruigrok, Ynte, Sauerbeck, Laura, Słowik, Agnieszka, Vermeulen, Sita H, Woo, Daniel, Worrall, Bradford B, Broderick, Joseph
Publicado em 2014

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Por Rivas, Manuel A., Graham, Daniel, Sulem, Patrick, Stevens, Christine, Desch, A. Nicole, Goyette, Philippe, Gudbjartsson, Daniel, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Degenhardt, Frauke, Mucha, Sören, Kurki, Mitja I., Li, Dalin, D'Amato, Mauro, Annese, Vito, Vermeire, Severine, Weersma, Rinse K., Halfvarson, Jonas, Paavola-Sakki, Paulina, Lappalainen, Maarit, Lek, Monkol, Cummings, Beryl, Tukiainen, Taru, Haritunians, Talin, Halme, Leena, Koskinen, Lotta L. E., Ananthakrishnan, Ashwin N., Luo, Yang, Heap, Graham A., Visschedijk, Marijn C., MacArthur, Daniel G., Neale, Benjamin M., Ahmad, Tariq, Anderson, Carl A., Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Cho, Judy H., Palotie, Aarno, Saavalainen, Päivi, Kontula, Kimmo, Färkkilä, Martti, McGovern, Dermot P. B., Franke, Andre, Stefansson, Kari, Rioux, John D., Xavier, Ramnik J., Daly, Mark J.
Publicado no Nat Commun (2016)

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Por Rivas, Manuel A., Graham, Daniel, Sulem, Patrick, Stevens, Christine, Desch, A. Nicole, Goyette, Philippe, Gudbjartsson, Daniel, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Degenhardt, Frauke, Mucha, Sören, Kurki, Mitja I., Li, Dalin, D'Amato, Mauro, Annese, Vito, Vermeire, Severine, Weersma, Rinse K., Halfvarson, Jonas, Paavola-Sakki, Paulina, Lappalainen, Maarit, Lek, Monkol, Cummings, Beryl, Tukiainen, Taru, Haritunians, Talin, Halme, Leena, Koskinen, Lotta L. E., Ananthakrishnan, Ashwin N., Luo, Yang, Heap, Graham A., Visschedijk, Marijn C., MacArthur, Daniel G., Neale, Benjamin M., Ahmad, Tariq, Anderson, Carl A., Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Cho, Judy H, Palotie, Aarno, Saavalainen, Päivi, Kontula, Kimmo, Färkkilä, Martti, McGovern, Dermot P. B., Franke, Andre, Stefansson, Kari, Rioux, John D., Xavier, Ramnik J., Daly, Mark J., Barrett, J., de Lane, K., Edwards, C., Hart, A., Hawkey, C., Jostins, L., Kennedy, N., Lamb, C., Lee, J., Lees, C., Mansfield, J., Mathew, C., Mowatt, C., Newman, B., Nimmo, E., Parkes, M., Pollard, M., Prescott, N., Randall, J., Rice, D., Satsangi, J., Simmons, A., Tremelling, M., Uhlig, H., Wilson, D., Abraham, C., Achkar, J. P., Bitton, A., Boucher, G., Croitoru, K., Fleshner, P., Glas, J., Kugathasan, S., Limbergen, J. V., Milgrom, R., Proctor, D., Regueiro, M., Schumm, P. L., Sharma, Y., Stempak, J. M., Targan, S. R., Wang, M. H.
Publicado no Nat Commun (2016)

Analysis of protein-coding genetic variation in 60,706 humans

Por Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G
Publicado no Nature (2016)

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Por Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S, Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab HH, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda WJH, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S, Männikkä, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Ikram, M Arfan, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn MJM, Zwart, John-Anker, Boomsma, Dorret I, Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Palotie, Aarno
Publicado no Nat Genet (2016)

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

Por van ’t Hof, Femke N. G., Ruigrok, Ynte M., Lee, Cue Hyunkyu, Ripke, Stephan, Anderson, Graig, de Andrade, Mariza, Baas, Annette F., Blankensteijn, Jan D., Böttinger, Erwin P., Bown, Matthew J., Broderick, Joseph, Bijlenga, Philippe, Carrell, David S., Crawford, Dana C., Crosslin, David R., Ebeling, Christian, Eriksson, Johan G., Fornage, Myriam, Foroud, Tatiana, von und zu Fraunberg, Mikael, Friedrich, Christoph M., Gaál, Emília I., Gottesman, Omri, Guo, Dong‐Chuan, Harrison, Seamus C., Hernesniemi, Juha, Hofman, Albert, Inoue, Ituro, Jääskeläinen, Juha E., Jones, Gregory T., Kiemeney, Lambertus A. L. M., Kivisaari, Riku, Ko, Nerissa, Koskinen, Seppo, Kubo, Michiaki, Kullo, Iftikhar J., Kuivaniemi, Helena, Kurki, Mitja I., Laakso, Aki, Lai, Dongbing, Leal, Suzanne M., Lehto, Hanna, LeMaire, Scott A., Low, Siew‐Kee, Malinowski, Jennifer, McCarty, Catherine A., Milewicz, Dianna M., Mosley, Thomas H., Nakamura, Yusuke, Nakaoka, Hirofumi, Niemelä, Mika, Pacheco, Jennifer, Peissig, Peggy L., Pera, Joanna, Rasmussen‐Torvik, Laura, Ritchie, Marylyn D., Rivadeneira, Fernando, van Rij, Andre M., Santos‐Cortez, Regie Lyn P., Saratzis, Athanasios, Slowik, Agnieszka, Takahashi, Atsushi, Tromp, Gerard, Uitterlinden, André G., Verma, Shefali S., Vermeulen, Sita H., Wang, Gao T., Han, Buhm, Rinkel, Gabriël J. E., de Bakker, Paul I. W., Bown, Matthew J., Harrison, Seamus C., Saratzis, Athanasios, Verissimo, Ana, Wright, Benjamin J., Bumpstead, Suzannah, Baas, Annette F., Gretarsdottir, Solveig, Badger, Stephen A., Child, Anne H., Clough, Rachel E., Cockerill, Gillian, Hafez, Hany, Scott, D. Julian A., Futers, Simon, Sohrabi, Soroush, Smith, Alberto, Thompson, Matthew M., van Bockxmeer, Frank M., Matthiasson, Stefan E., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Blankensteijn, Jan D., Teijink, Joep A. W., Wijmenga, Cisca, de Graaf, Jacqueline, Kiemeney, Lambertus A., Palmen, Jutta, Smith, Andrew J., Lindholt, Jes S., Bradley, Declan T., Waltham, Matthew, Edkins, Sarah, Gwilliam, Rhian, Hunt, Sarah E., Potter, Simon, Golledge, Jonathan, Eriksson, Per, Norman, Paul E., Powell, Janet T., Stefansson, Kari, Thompson, John R., Humphries, Steve E., Sayers, Robert D., Deloukas, Panos, Samani, Nilesh J., Jones, Gregory T., Phillip, L. Victoria, van Rij, Andre M., Hill, Geraldine B., Williams, Michael J. A., Thomson, Ian A., Krysa, Jo, Wilkins, Gerard T., Merriman, Tony R., Vasudevan, Thodor M., Lewis, David R., Blair, Ross D., Hill, Andrew A.
Publicado no J Am Heart Assoc (2016)