Browsing by Author "Kurki, Mitja"

Now showing items 1-3 of 3

    • Mono- and Biallelic Variant Effects on Disease at Biobank Scale 

      Heyne, Henrike; Karjalainen, Juha; Karczewski, Konrad; Lemmelä, Susanna; Zhou, Wei; Havulinna, Aki S.; Kurki, Mitja; Rehm, Heidi; Palotie, Aarno; Daly, Mark (Springer Science and Business Media LLC, 2023-01-18)
      Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics 1 . Population bottleneck events, such as in the Finnish population history, enrich some homozygous variants to ...

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

      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.; Barrett, J; de Lange, K; Edwards, C; Hart, A; Hawkey, C; Jostins, L; Kennedy, N; Lamb, C; Lee, J; Lees, C; Mansfield, J; Mathew, C; Mowatt, C; Newman, W; 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; 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. (Nature Publishing Group, 2016)
      Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection ...

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

      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.; Verissimo, Ana; Wright, Benjamin J.; Bumpstead, Suzannah; 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; 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.; Phillip, L. Victoria; 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. (John Wiley and Sons Inc., 2016)
      Background: Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co‐occur, we hypothesized that ...