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 2011

Epilepsy-associated long-term mortality after aneurysmal subarachnoid hemorrhage

por Huttunen, Jukka, Lindgren, Antti, Kurki, Mitja I., Huttunen, Terhi, Frösen, Juhana, Koivisto, Timo, von und zu Fraunberg, Mikael, Immonen, Arto, Jääskeläinen, Juha E., Kälviäinen, Reetta
Publicado 2017

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 2013

Secondary hypertension in patients with saccular intracranial aneurysm disease: A population based study

por Kotikoski, Satu, Huttunen, Jukka, Huttunen, Terhi J., Helin, Katariina, Frösen, Juhana, Koivisto, Timo, Kurki, Mitja I., von und zu Fraunberg, Mikael, Kunnamo, Ilkka, Jääskeläinen, Juha E., Lindgren, Antti E.
Publicado 2018

Genetic associations of protein-coding variants in human disease

por Sun, Benjamin B., Kurki, Mitja I., Foley, Christopher N., Mechakra, Asma, Chen, Chia-Yen, Marshall, Eric, Wilk, Jemma B., Chahine, Mohamed, Chevalier, Philippe, Christé, Georges, Palotie, Aarno, Daly, Mark J., Runz, Heiko
Publicado 2022

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

por Tallgren, Antti, Kager, Leo, O’Grady, Gina, Tuominen, Hannu, Körkkö, Jarmo, Kuismin, Outi, Feucht, Martha, Wilson, Callum, Behunova, Jana, England, Eleina, Kurki, Mitja I., Palotie, Aarno, Hallman, Mikko, Kaarteenaho, Riitta, Laccone, Franco, Boztug, Kaan, Hinttala, Reetta, Uusimaa, Johanna
Publicado 2023

Prevalence of Schizophrenia in Idiopathic Normal Pressure Hydrocephalus

por Vanhala, Vasco, Junkkari, Antti, Korhonen, Ville E, Kurki, Mitja I, Hiltunen, Mikko, Rauramaa, Tuomas, Nerg, Ossi, Koivisto, Anne M, Remes, Anne M, Perälä, Jonna, Suvisaari, Jaana, Lehto, Soili M, Viinamäki, Heimo, Soininen, Hilkka, Jääskeläinen, Juha E, Leinonen, Ville
Publicado 2019

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

por Rahikkala, Elisa, Urpa, Lea, Ghimire, Bishwa, Topa, Hande, Kurki, Mitja I., Koskela, Maryna, Airavaara, Mikko, Hämäläinen, Eija, Pylkäs, Katri, Körkkö, Jarmo, Savolainen, Helena, Suoranta, Anu, Bertoli-Avella, Aida, Rolfs, Arndt, Mattila, Pirkko, Daly, Mark, Palotie, Aarno, Pietiläinen, Olli, Moilanen, Jukka, Kuismin, Outi
Publicado 2022

Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case–control comparison with family members

por Räsänen, Joel, Huovinen, Joel, Korhonen, Ville E., Junkkari, Antti, Kastinen, Sami, Komulainen, Simo, Oinas, Minna, Avellan, Cecilia, Frantzen, Janek, Rinne, Jaakko, Ronkainen, Antti, Kauppinen, Mikko, Lönnrot, Kimmo, Perola, Markus, Koivisto, Anne M., Remes, Anne M., Soininen, Hilkka, Hiltunen, Mikko, Helisalmi, Seppo, Kurki, Mitja I., Jääskeläinen, Juha E., Leinonen, Ville
Publicado 2020

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

por Kurki, Mitja I., Saarentaus, Elmo, Pietiläinen, Olli, Gormley, Padhraig, Lal, Dennis, Kerminen, Sini, Torniainen-Holm, Minna, Hämäläinen, Eija, Rahikkala, Elisa, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen–Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna, Peltonen, Markku, Havulinna, Aki S., Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Daly, Mark J., Palotie, Aarno
Publicado 2019

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

por Rahikkala, Elisa, Myllykoski, Matti, Hinttala, Reetta, Vieira, Päivi, Nayebzadeh, Naemeh, Weiss, Simone, Plomp, Astrid S., Bittner, Reginald E., Kurki, Mitja I., Kuismin, Outi, Lewis, Andrea M., Väisänen, Marja-Leena, Kokkonen, Hannaleena, Westermann, Jonne, Bernert, Günther, Tuominen, Hannu, Palotie, Aarno, Aaltonen, Lauri, Yang, Yaping, Potocki, Lorraine, Moilanen, Jukka, van Koningsbruggen, Silvana, Wang, Xia, Schmidt, Wolfgang M., Koivunen, Peppi, Uusimaa, Johanna
Publicado 2019

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

por Kaasinen, Eevi, Kuismin, Outi, Rajamäki, Kristiina, Ristolainen, Heikki, Aavikko, Mervi, Kondelin, Johanna, Saarinen, Silva, Berta, Davide G., Katainen, Riku, Hirvonen, Elina A. M., Karhu, Auli, Taira, Aurora, Tanskanen, Tomas, Alkodsi, Amjad, Taipale, Minna, Morgunova, Ekaterina, Franssila, Kaarle, Lehtonen, Rainer, Mäkinen, Markus, Aittomäki, Kristiina, Palotie, Aarno, Kurki, Mitja I., Pietiläinen, Olli, Hilpert, Morgane, Saarentaus, Elmo, Niinimäki, Jaakko, Junttila, Juhani, Kaikkonen, Kari, Vahteristo, Pia, Skoda, Radek C., Seppänen, Mikko R. J., Eklund, Kari K., Taipale, Jussi, Kilpivaara, Outi, Aaltonen, Lauri A.
Publicado 2019

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 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 2016

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

por Konrad, Enrico D. H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E., Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H., Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M., Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R., Ellingson, Marissa S., Ferber, Matthew J., Dhamija, Radhika, Klee, Eric W., McEntagart, Meriel, Lichtenbelt, Klaske D., Kenney, Amy, Vergano, Samantha A., Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J., Martin, Richard J., Jongmans, Marjolijn C. J., Chang, Vivian Y., Martinez-Agosto, Julian A., Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J., Johnson, Diana S., Venborg Pedersen, Katja, Laulund, Lone W., Lynch, Sally A., Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H., Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane
Publicado 2019

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 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 2016

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

por Bis, Joshua C., Jian, Xueqiu, Kunkle, Brian W., Chen, Yuning, Hamilton-Nelson, Kara L., Bush, William S., Salerno, William J., Lancour, Daniel, Ma, Yiyi, Renton, Alan E., Marcora, Edoardo, Farrell, John J., Zhao, Yi, Qu, Liming, Ahmad, Shahzad, Amin, Najaf, Amouyel, Philippe, Beecham, Gary W., Below, Jennifer E., Campion, Dominique, Cantwell, Laura, Charbonnier, Camille, Chung, Jaeyoon, Crane, Paul K., Cruchaga, Carlos, Cupples, L. Adrienne, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Fulton, Lucinda, Gabriel, Stacey B., Genin, Emmanuelle, Gibbs, Richard A., Goate, Alison, Grenier-Boley, Benjamin, Gupta, Namrata, Haines, Jonathan L., Havulinna, Aki S., Helisalmi, Seppo, Hiltunen, Mikko, Howrigan, Daniel P., Ikram, M. Arfan, Kaprio, Jaakko, Konrad, Jan, Kuzma, Amanda, Lander, Eric S., Lathrop, Mark, Lehtimäki, Terho, Lin, Honghuang, Mattila, Kari, Mayeux, Richard, Muzny, Donna M., Nasser, Waleed, Neale, Benjamin, Nho, Kwangsik, Nicolas, Gaël, Patel, Devanshi, Pericak-Vance, Margaret A., Perola, Markus, Psaty, Bruce M., Quenez, Olivier, Rajabli, Farid, Redon, Richard, Reitz, Christiane, Remes, Anne M., Salomaa, Veikko, Sarnowski, Chloe, Schmidt, Helena, Schmidt, Michael, Schmidt, Reinhold, Soininen, Hilkka, Thornton, Timothy A., Tosto, Giuseppe, Tzourio, Christophe, van der Lee, Sven J., van Duijn, Cornelia M., Valladares, Otto, Vardarajan, Badri, Wang, Li-San, Wang, Weixin, Wijsman, Ellen, Wilson, Richard K., Witten, Daniela, Worley, Kim C., Zhang, Xiaoling, Bellenguez, Celine, Lambert, Jean-Charles, Kurki, Mitja I., Palotie, Aarno, Daly, Mark, Boerwinkle, Eric, Lunetta, Kathryn L., Destefano, Anita L., Dupuis, Josée, Martin, Eden R., Schellenberg, Gerard D., Seshadri, Sudha, Naj, Adam C., Fornage, Myriam, Farrer, Lindsay A.
Publicado 2018

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

por Bis, Joshua C., Jian, Xueqiu, Kunkle, Brian W., Chen, Yuning, Hamilton-Nelson, Kara L., Bush, William S., Salerno, William J., Lancour, Daniel, Ma, Yiyi, Renton, Alan E., Marcora, Edoardo, Farrell, John J., Zhao, Yi, Qu, Liming, Ahmad, Shahzad, Amin, Najaf, Amouyel, Philippe, Beecham, Gary W., Below, Jennifer E., Campion, Dominique, Cantwell, Laura, Charbonnier, Camille, Chung, Jaeyoon, Crane, Paul K., Cruchaga, Carlos, Cupples, L. Adrienne, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Fulton, Lucinda, Gabriel, Stacey B., Genin, Emmanuelle, Gibbs, Richard A., Goate, Alison, Grenier-Boley, Benjamin, Gupta, Namrata, Haines, Jonathan L., Havulinna, Aki S., Helisalmi, Seppo, Hiltunen, Mikko, Howrigan, Daniel P., Ikram, M. Arfan, Kaprio, Jaakko, Konrad, Jan, Kuzma, Amanda, Lander, Eric S., Lathrop, Mark, Lehtimäki, Terho, Lin, Honghuang, Mattila, Kari, Mayeux, Richard, Muzny, Donna M., Nasser, Waleed, Neale, Benjamin, Nho, Kwangsik, Nicolas, Gaël, Patel, Devanshi, Pericak-Vance, Margaret A., Perola, Markus, Psaty, Bruce M., Quenez, Olivier, Rajabli, Farid, Redon, Richard, Reitz, Christiane, Remes, Anne M., Salomaa, Veikko, Sarnowski, Chloe, Schmidt, Helena, Schmidt, Michael, Schmidt, Reinhold, Soininen, Hilkka, Thornton, Timothy A., Tosto, Giuseppe, Tzourio, Christophe, van der Lee, Sven J., van Duijn, Cornelia M., Valladares, Otto, Vardarajan, Badri, Wang, Li-San, Wang, Weixin, Wijsman, Ellen, Wilson, Richard K., Witten, Daniela, Worley, Kim C., Zhang, Xiaoling, Bellenguez, Celine, Lambert, Jean-Charles, Kurki, Mitja I., Palotie, Aarno, Daly, Mark, Boerwinkle, Eric, Lunetta, Kathryn L., Destefano, Anita L., Dupuis, Josée, Martin, Eden R., Schellenberg, Gerard D., Seshadri, Sudha, Naj, Adam C., Fornage, Myriam, Farrer, Lindsay A.
Publicado 2019

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 2016