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20052021

Research activity per year

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Search results

  • 2021

    Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

    HIPSCI Consortium, iPSCORE Consortium, Undiagnosed Dis Network, PhLiPS Consortium, Bonder, M. J., Li, X. & Kilpinen, H., 4 Mar 2021, In: Nature Genetics. 53, 3, p. 313–321 25 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • Tautimekanismien jäljille iPS-solujen ja biopankkien avulla

    Kilpinen, H., Trokovic, R., Loukola, A. & Otonkoski, T., 2021, In: Duodecim. 137, 9, p. 918-924 7 p.

    Research output: Contribution to journalReview Articlepeer-review

  • 2020

    Genomic basis for RNA alterations in cancer

    PCAWG Transcriptome Core Grp, PCAWG Transcriptome Working Grp, PCAWG Consortium, Calabrese, C. & Kilpinen, H., 6 Feb 2020, In: Nature. 578, 7793, p. 129-+ 50 p.

    Research output: Contribution to journalArticleScientificpeer-review

    Open Access
  • Pan-cancer analysis of whole genomes

    Campbell, P. J., Getz, G., Korbel, J. O., Stuart, J. M., Jennings, J. L., Stein, L. D., Perry, M. D., Nahal-Bose, H. K., Ouellette, B. F. F., Li, C. H., Rheinbay, E., Nielsen, G. P., Sgroi, D. C., Wu, C-L., Faquin, W. C., Deshpande, V., Boutros, P. C., Lazar, A. J., Hoadley, K. A., Louis, D. N. & 1,316 others, Dursi, L. J., Yung, C., Bailey, M. H., Saksena, G., Raine, K. M., Buchhalter, I., Kleinheinz, K., Schlesner, M., Zhang, J., Wang, W., Wheeler, D. A., Ding, L., Simpson, J. T., O'Connor, B. D., Yakneen, S., Ellrott, K., Miyoshi, N., Butler, A. P., Royo, R., Shorser, S., Vazquez, M., Rausch, T., Tiao, G., Waszak, S. M., Rodriguez-Martin, B., Shringarpure, S., Wu, D-Y., Demidov, G. M., Delaneau, O., Hayashi, S., Imoto, S., Habermann, N., Segre, A., Garrison, E., Cafferkey, A., Alvarez, E. G., Maria Heredia-Genestar, J., Muyas, F., Drechsel, O., Bruzos, A. L., Temes, J., Zamora, J., Baez-Ortega, A., Kim, H-L., Mashl, R. J., Ye, K., DiBiase, A., Huang, K., Letunic, I., McLellan, M. D., Newhouse, S. J., Shmaya, T., Kumar, S., Wedge, D. C., Wright, M. H., Yellapantula, V. D., Gerstein, M., Khurana, E., Marques-Bonet, T., Navarro, A., Bustamante, C. D., Siebert, R., Nakagawa, H., Easton, D. F., Ossowski, S., Tubio, J. M. C., De La Vega, F. M., Estivill, X., Yuen, D., Mihaiescu, G. L., Omberg, L., Ferretti, V., Sabarinathan, R., Pich, O., Gonzalez-Perez, A., Weiner, A. T., Fittall, M. W., Demeulemeester, J., Tarabichi, M., Roberts, N. D., Van Loo, P., Cortes-Ciriano, I., Urban, L., Park, P., Bin Zhu, L., Pitkaenen, E., Li, Y., Saini, N., Klimczak, L. J., Weischenfeldt, J., Sidiropoulos, N., Alexandrov, L. B., Rabionet, R., Escaramis, G., Bosio, M., Holik, A. Z., Susak, H., Prasad, A., Erkek, S., Calabrese, C., Raeder, B., Harrington, E., Mayes, S., Turner, D., Juul, S., Roberts, S. A., Song, L., Koster, R., Mirabello, L., Hua, X., Tanskanen, T. J., Tojo, M., Chen, J., Aaltonen, L. A., Ratsch, G., Schwarz, R. F., Butte, A. J., Brazma, A., Chanock, S. J., Chatterjee, N., Stegle, O., Harismendy, O., Bova, G. S., Gordenin, D. A., Haan, D., Sieverling, L., Feuerbach, L., Chalmers, D., Joly, Y., Knoppers, B. M., Molnar-Gabor, F., Phillips, M., Thorogood, A., Townend, D., Goldman, M., Fonseca, N. A., Xiang, Q., Craft, B., Pineiro-Yanez, E., Munoz, A., Petryszak, R., Fullgrabe, A., Al-Shahrour, F., Keays, M., Haussler, D., Weinstein, J., Huber, W., Valencia, A., Papatheodorou, I., Zhu, J., Fan, Y., Torrents, D., Bieg, M., Chen, K., Chong, Z., Cibulskis, K., Eils, R., Fulton, R. S., Gelpi, J. L., Gonzalez, S., Gut, I. G., Hach, F., Heinold, M., Hu, T., Huang, V., Hutter, B., Jaeger, N., Jung, J., Kumar, Y., Lalansingh, C., Leshchiner, I., Livitz, D., Ma, E. Z., Maruvka, Y. E., Milovanovic, A., Nielsen, M. M., Paramasivam, N., Pedersen, J. S., Puiggros, M., Sahinalp, S. C., Sarrafi, I., Stewart, C., Stobbe, M. D., Wala, J. A., Wang, J., Wendl, M. C., Werner, J., Wu, Z., Xue, H., Yamaguchi, T. N., Yellapantula, V., Davis-Dusenbery, B. N., Grossman, R. L., Kim, Y., Heinold, M. C., Hinton, J., Jones, D. R., Menzies, A., Stebbings, L., Hess, J. M., Rosenberg, M., Dunford, A. J., Gupta, M., Imielinski, M., Meyerson, M., Beroukhim, R., Reimand, J., Dhingra, P., Favero, F., Dentro, S. C., Wintersinger, J., Rudneva, V., Park, J. W., Hong, E. P., Heo, S. G., Kahles, A., Kjong-Van Lehmann, Soulette, C. M., Shiraishi, Y., Liu, F., He, Y., Demircioglu, D., Davidson, N. R., Greger, L., Li, S., Liu, D., Stark, S. G., Zhang, F., Amin, S. B., Bailey, P. J., Chateigner, A., Frenkel-Morgenstern, M., Hou, Y., Huska, M. R., Kilpinen, H., Lamaze, F. C., Li, C., Li, X., Li, X., Liu, X., Marin, M. G., Markowski, J., Nandi, T., Ojesina, A., Pan-Hammarstrom, Q., Park, P. J., Pedamallu, C. S., Su, H., Tan, P., Teh, B. T., Wang, J., Xiong, H., Ye, C., Yung, C., Zhang, X., Zheng, L., Zhu, S., Awadalla, P., Creighton, C. J., Wu, K., Yang, H., Goke, J., Zhang, Z., Brooks, A. N., Martincorena, I., Rubio-Perez, C., Juul, M., Schumacher, S., Shapira, O., Tamborero, D., Mularoni, L., Hornshoj, H., Deu-Pons, J., Muinos, F., Bertl, J., Guo, Q., Bazant, W., Barrera, E., Al-Sedairy, S. T., Aretz, A., Bell, C., Betancourt, M., Buchholz, C., Calvo, F., Chomienne, C., Dunn, M., Edmonds, S., Green, E., Gupta, S., Hutter, C. M., Jegalian, K., Jones, N., Lu, Y., Nakagama, H., Nettekoven, G., Planko, L., Scott, D., Shibata, T., Shimizu, K., Stratton, M. R., Yugawa, T., Tortora, G., VijayRaghavan, K., Zenklusen, J. C., Knoppers, B. M., Aminou, B., Bartolome, J., Boroevich, K. A., Boyce, R., Buchanan, A., Byrne, N. J., Chen, Z., Cho, S., Choi, W., Clapham, P., Dow, M. T., Dursi, L. J., Eils, J., Farcas, C., Fayzullaev, N., Flicek, P., Heath, A. P., Hofmann, O., Hong, J. H., Hudson, T. J., Huebschmann, D., Ivkovic, S., Jeon, S-H., Jiao, W., Kabbe, R., Kerssemakers, J. N. A., Kim, H., Kim, J., Koscher, M., Koures, A., Kovacevic, M., Lawerenz, C., Liu, J., Mijalkovic, S., Mijalkovic-Lazic, A. M., Miyano, S., Nastic, M., Nicholson, J., Ocana, D., Ohi, K., Ohno-Machado, L., Pihl, T. D., Prinz, M., Radovic, P., Short, C., Sofia, H. J., Spring, J., Struck, A. J., Tijanic, N., Vicente, D., Wang, Z., Williams, A., Woo, Y., Wright, A. J., Yang, L., Hamilton, M. P., Johnson, T. A., Kahraman, A., Kellis, M., Polak, P., Sallari, R., Sinnott-Armstrong, N., von Mering, C., Beltran, S., Gerhard, D. S., Gut, M., Trotta, J-R., Whalley, J. P., Niu, B., Espiritu, S. M. G., Gao, S., Huang, Y., Lalansingh, C. M., Teague, J. W., Wendl, M. C., Abascal, F., Bader, G. D., Bandopadhayay, P., Barenboim, J., Brunak, S., Fita, J. C., Chakravarty, D., Chan, C. W. Y., Choi, J. K., Diamanti, K., Fink, J. L., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Haradhvala, N. J., Harmanci, A. O., Helmy, M., Herrmann, C., Hobolth, A., Hodzic, E., Hong, C., Isaev, K., Izarzugaza, J. M. G., Johnson, R., Juul, R. I., Kim, J., Kim, J. K., Komorowski, J., Lanzos, A., Larsson, E., Lee, D., Li, S., Li, X., Lin, Z., Liu, E. M., Lochovsky, L., Lou, S., Madsen, T., Marchal, K., Fundichely, A. M., McGillivray, P. D., Meyerson, W., Paczkowska, M., Park, K., Park, K., Pons, T., Pulido-Tamayo, S., Reyes Salazar, I., Reyna, M. A., Rubin, M. A., Salichos, L., Sander, C., Schumacher, S. E., Shackleton, M., Shen, C., Shrestha, R., Shuai, S., Tsunoda, T., Umer, H. M., Uuskula-Reimand, L., Verbeke, L. P. C., Wadelius, C., Wadi, L., Warrell, J., Wu, G., Yu, J., Zhang, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., Lawrence, M. S., Raphael, B. J., Bailey, P. J., Craft, D., Goldman, M. J., Aburatani, H., Binder, H., Dinh, H. Q., Heath, S. C., Hoffmann, S., Imbusch, C. D., Kretzmer, H., Laird, P. W., Martin-Subero, J., Nagae, G., Shen, H., Wang, Q., Weichenhan, D., Zhou, W., Berman, B. P., Brors, B., Plass, C., Akdemir, K. C., Bowtell, D. D. L., Burns, K. H., Busanovich, J., Chan, K., Dueso-Barroso, A., Edwards, P. A., Etemadmoghadam, D., Haber, J. E., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Koh, Y., Kumar, K., Lee, E. A., Lee, J. J-K., Lynch, A. G., Macintyre, G., Markowetz, F., Navarro, F. C. P., Pearson, J., Rippe, K., Scully, R., Villasante, I., Waddell, N., Yang, L., Yao, X., Yoon, S-S., Zhang, C-Z., Bergstrom, E. N., Boot, A., Covington, K., Fujimoto, A., Huang, M. N., Islam, S. M. A., McPherson, J. R., Morganella, S., Mustonen, V., Ng, A. W. T., Prokopec, S. D., Vazquez-Garcia, I., Wu, Y., Yousif, F., Yu, W., Rozen, S. G., Rudneva, V. A., Shringarpure, S. S., Turner, D. J., Xia, T., Atwal, G., Chang, D. K., Cooke, S. L., Faltas, B. M., Haider, S., Kaiser, V. B., Karlic, R., Kato, M., Kubler, K., Margolin, A., Martin, S., Nik-Zainal, S., P'ng, C., Semple, C. A., Smith, J., Sun, R. X., Thai, K., Wright, D. W., Yuan, K., Biankin, A., Garraway, L., Grimmond, S. M., Adams, D. J., Anur, P., Cao, S., Christie, E. L., Cmero, M., Cun, Y., Dawson, K. J., Dentro, S. C., Deshwar, A. G., Donmez, N., Drews, R. M., Gerstung, M., Ha, G., Haase, K., Jerman, L., Ji, Y., Jolly, C., Lee, J., Lee-Six, H., Malikic, S., Mitchell, T. J., Morris, Q. D., Oesper, L., Peifer, M., Peto, M., Rosebrock, D., Rubanova, Y., Salcedo, A., Sengupta, S., Shi, R., Shin, S. J., Spiro, O., Vembu, S., Wintersinger, J. A., Yang, T-P., Yu, K., Zhu, H., Spellman, P. T., Weinstein, J. N., Chen, Y., Fujita, M., Han, L., Hasegawa, T., Komura, M., Li, J., Mizuno, S., Shimizu, E., Wang, Y., Xu, Y., Yamaguchi, R., Yang, F., Yang, Y., Yoon, C. J., Yuan, Y., Liang, H., Alawi, M., Borozan, I., Brewer, D. S., Cooper, C. S., Desai, N., Grundhoff, A., Iskar, M., Su, X., Zapatka, M., Lichter, P., Alsop, K., Bruxner, T. J. C., Christ, A. N., Cordner, S. M., Cowin, P. A., Drapkin, R., Fereday, S., George, J., Hamilton, A., Holmes, O., Hung, J. A., Kassahn, K. S., Kazakoff, S. H., Kennedy, C. J., Leonard, C. R., Mileshkin, L., Miller, D. K., Arnau, G. M., Mitchell, C., Newell, F., Nones, K., Patch, A-M., Quinn, M. C., Taylor, D. F., Thorne, H., Traficante, N., Vedururu, R., Waddell, N. M., Waring, P. M., Wood, S., Xu, Q., DeFazio, A., Anderson, M. J., Antonello, D., Barbour, A. P., Bassi, C., Bersani, S., Cataldo, I., Chantrill, L. A., Chiew, Y-E., Chou, A., Cingarlini, S., Cloonan, N., Corbo, V., Davi, M. V., Duthie, F. R., Gill, A. J., Graham, J. S., Harliwong, I., Jamieson, N. B., Johns, A. L., Kench, J. G., Landoni, L., Lawlor, R. T., Mafficini, A., Merrett, N. D., Miotto, M., Musgrove, E. A., Nagrial, A. M., Oien, K. A., Pajic, M., Pinese, M., Robertson, A. J., Rooman, I., Rusev, B. C., Samra, J. S., Scardoni, M., Scarlett, C. J., Scarpa, A., Sereni, E., Sikora, K. O., Simbolo, M., Taschuk, M. L., Toon, C. W., Vicentini, C., Wu, J., Zeps, N., Behren, A., Burke, H., Cebon, J., Dagg, R. A., De Paoli-Iseppi, R., Dutton-Regester, K., Field, M. A., Fitzgerald, A., Hersey, P., Jakrot, V., Johansson, P. A., Kakavand, H., Kefford, R. F., Lau, L. M. S., Long, G., Pickett, H. A., Pritchard, A. L., Pupo, G. M., Saw, R. P. M., Schramm, S-J., Shang, C. A., Shang, P., Spillane, A. J., Stretch, J. R., Tembe, V., Thompson, J. F., Vilain, R. E., Wilmott, J. S., Yang, J. Y., Hayward, N. K., Mann, G. J., Scolyer, R. A., Bartlett, J., Bavi, P., Chadwick, D. E., Chan-Seng-Yue, M., Cleary, S., Connor, A. A., Czajka, K., Denroche, R. E., Dhani, N. C., Eagles, J., Gallinger, S., Grant, R. C., Hedley, D., Hollingsworth, M. A., Jang, G. H., Johns, J., Kalimuthu, S., Liang, S-B., Lungu, I., Luo, X., Mbabaali, F., McPherson, T. A., Miller, J. K., Moore, M. J., Notta, F., Pasternack, D., Petersen, G. M., Roehrl, M. H. A., Sam, M., Selander, I., Serra, S., Shahabi, S., Thayer, S. P., Timms, L. E., Wilson, G. W., Wilson, J. M., Wouters, B. G., McPherson, J. D., Beck, T. A., Bhandari, V., Collins, C. C., Fleshner, N. E., Fox, N. S., Fraser, M., Heisler, L. E., Lalonde, E., Livingstone, J., Meng, A., Sabelnykova, V. Y., Shiah, Y-J., Van Der Kwast, T., Bristow, R. G., Ding, S., Fan, D., Li, L., Nie, Y., Xiao, X., Xing, R., Yang, S., Yu, Y., Zhou, Y., Banks, R. E., Bourque, G., Brennan, P., Letourneau, L., Riazalhosseini, Y., Scelo, G., Vasudev, N., Viksna, J., Lathrop, M., Tost, J., Ahn, S-M., Aparicio, S., Arnould, L., Aure, M. R., Bhosle, S. G., Birney, E., Borg, A., Boyault, S., Brinkman, A. B., Brock, J. E., Broeks, A., Borresen-Dale, A-L., Caldas, C., Chin, S-F., Davies, H., Desmedt, C., Dirix, L., Dronov, S., Ehinger, A., Eyfjord, J. E., Fatima, A., Foekens, J. A., Futreal, P. A., Garred, O., Giri, D. D., Glodzik, D., Grabau, D., Hilmarsdottir, H., Hooijer, G. K., Jacquemier, J., Jang, S. J., Jonasson, J. G., Jonkers, J., Kim, H-Y., King, T. A., Knappskog, S., Kong, G., Krishnamurthy, S., Lakhani, S. R., Langerod, A., Larsimont, D., Lee, H. J., Lee, J-Y., Lee, M. T. M., Lingjaerde, O. C., MacGrogan, G., Martens, J. W. M., O'Meara, S., Pauporte, I., Pinder, S., Pivot, X., Provenzano, E., Purdie, C. A., Ramakrishna, M., Ramakrishnan, K., Reis-Filho, J., Richardson, A. L., Ringner, M., Rodriguez, J. B., Rodriguez-Gonzalez, F. G., Romieu, G., Salgado, R., Sauer, T., Shepherd, R., Sieuwerts, A. M., Simpson, P. T., Smid, M., Sotiriou, C., Span, P. N., Stefansson, O. A., Stenhouse, A., Stunnenberg, H. G., Sweep, F., Tan, B. K. T., Thomas, G., Thompson, A. M., Tommasi, S., Treilleux, I., Tutt, A., Ueno, N. T., Van Laere, S., Van den Eynden, G. G., Vermeulen, P., Viari, A., Vincent-Salomon, A., Wong, B. H., Yates, L., Zou, X., van Deurzen, C. H. M., van de Vijver, M. J., van't Veer, L., Ammerpohl, O., Aukema, S., Bergmann, A. K., Bernhart, S. H., Borkhardt, A., Borst, C., Burkhardt, B., Claviez, A., Goebler, M. E., Haake, A., Haas, S., Hansmann, M., Hoell, J., Hummel, M., Karsch, D., Klapper, W., Kneba, M., Kreuz, M., Kube, D., Kueppers, R., Lenze, D., Loeffler, M., Lopez, C., Mantovani-Loeffler, L., Moeller, P., Ott, G., Radlwimmer, B., Richter, J., Rohde, M., Rosenstiel, P. C., Rosenwald, A., Schilhabel, M. B., Schreiber, S., Stadler, P. F., Staib, P., Stilgenbauer, S., Sungalee, S., Szczepanowski, M., Toprak, U. H., Truemper, L. H. P., Wagener, R., Zenz, T., Hovestadt, V., von Kalle, C., Kool, M., Korshunov, A., Landgraf, P., Lehrach, H., Northcott, P. A., Pfister, S. M., Reifenberger, G., Warnatz, H-J., Wolf, S., Yaspo, M-L., Assenov, Y., Gerhauser, C., Minner, S., Schlomm, T., Simon, R., Sauter, G., Sueltmann, H., Biswas, N. K., Maitra, A., Majumder, P. P., Sarin, R., Barbi, S., Bonizzato, G., Cantu, C., Dei Tos, A. P., Fassan, M., Grimaldi, S., Luchini, C., Malleo, G., Marchegiani, G., Milella, M., Paiella, S., Pea, A., Pederzoli, P., Ruzzenente, A., Salvia, R., Sperandio, N., Arai, Y., Hama, N., Hiraoka, N., Hosoda, F., Nakamura, H., Ojima, H., Okusaka, T., Totoki, Y., Urushidate, T., Fukayama, M., Ishikawa, S., Katai, H., Katoh, H., Komura, D., Rokutan, H., Saito-Adachi, M., Suzuki, A., Taniguchi, H., Tatsuno, K., Ushiku, T., Yachida, S., Yamamoto, S., Aikata, H., Arihiro, K., Ariizumi, S., Chayama, K., Furuta, M., Gotoh, K., Hayami, S., Hirano, S., Kawakami, Y., Maejima, K., Nakamura, T., Nakano, K., Ohdan, H., Sasaki-Oku, A., Tanaka, H., Ueno, M., Yamamoto, M., Yamaue, H., Choo, S. P., Cutcutache, I., Khuntikeo, N., Ong, C. K., Pairojkul, C., Popescu, I., Ahn, K. S., Aymerich, M., Lopez-Guillermo, A., Lopez-Otin, C., Puente, X. S., Campo, E., Amary, F., Baumhoer, D., Behjati, S., Bjerkehagen, B., Futreal, P. A., Myklebost, O., Pillay, N., Tarpey, P., Tirabosco, R., Zaikova, O., Flanagan, A. M., Boultwood, J., Bowen, D. T., Cazzola, M., Green, A. R., Hellstrom-Lindberg, E., Malcovati, L., Nangalia, J., Papaemmanuil, E., Vyas, P., Ang, Y., Barr, H., Beardsmore, D., Eldridge, M., Gossage, J., Grehan, N., Hanna, G. B., Hayes, S. J., Hupp, T. R., Khoo, D., Lagergren, J., Lovat, L. B., MacRae, S., O'Donovan, M., O'Neill, J. R., Parsons, S. L., Preston, S. R., Puig, S., Roques, T., Sanders, G., Sothi, S., Tavare, S., Tucker, O., Turkington, R., Underwood, T. J., Welch, I., Fitzgerald, R. C., Berney, D. M., De Bono, J. S., Cahill, D., Camacho, N., Dennis, N. M., Dudderidge, T., Edwards, S. E., Fisher, C., Foster, C. S., Ghori, M., Gill, P., Gnanapragasam, V. J., Gundem, G., Hamdy, F. C., Hawkins, S., Hazell, S., Howat, W., Isaacs, W. B., Karaszi, K., Kay, J. D., Khoo, V., Kote-Jarai, Z., Kremeyer, B., Kumar, P., Lambert, A., Leongamornlert, D. A., Livni, N., Lu, Y-J., Luxton, H. J., Marsden, L., Massie, C. E., Matthews, L., Mayer, E., McDermott, U., Merson, S., Neal, D. E., Ng, A., Nicol, D., Ogden, C., Rowe, E. W., Shah, N. C., Thomas, S., Thompson, A., Verrill, C., Visakorpi, T., Warren, A. Y., Whitaker, H. C., Zhang, H., van As, N., Eeles, R. A., Abeshouse, A., Agrawal, N., Akbani, R., Al Ahmadie, H., Albert, M., Aldape, K., Ally, A., Appelbaum, E. L., Armenia, J., Asa, S., Auman, J. T., Balasundaram, M., Balu, S., Barnholtz-Sloan, J., Bathe, O. F., Baylin, S. B., Benz, C., Berchuck, A., Berrios, M., Bigner, D., Birrer, M., Bodenheimer, T., Boice, L., Bootwalla, M. S., Bosenberg, M., Bowlby, R., Boyd, J., Broaddus, R. R., Brock, M., Brooks, D., Bullman, S., Caesar-Johnson, S. J., Carey, T. E., Carlsen, R., Cerfolio, R., Chandan, V. S., Chen, H-W., Cherniack, A. D., Chien, J., Cho, J., Chuah, E., Cibulskis, C., Cope, L., Cordes, M. G., Curley, E., Czerniak, B., Danilova, L., Davis, I. J., Defreitas, T., Demchok, J. A., Dhalla, N., Dhir, R., Doddapaneni, H., El-Naggar, A., Felau, I., Ferguson, M. L., Finocchiaro, G., Fong, K. M., Frazer, S., Friedman, W., Fronick, C. C., Fulton, L. A., Gabriel, S. B., Gao, J., Gehlenborg, N., Gershenwald, J. E., Ghossein, R., Giama, N. H., Gibbs, R. A., Gomez, C., Govindan, R., Hayes, D. N., Hegde, A. M., Heiman, D., Heins, Z., Hepperla, A. J., Holbrook, A., Holt, R. A., Hoyle, A. P., Hruban, R. H., Hu, J., Huang, M., Huntsman, D., Huse, J., Donahue, C. A. I., Ittmann, M., Jayaseelan, J. C., Jefferys, S. R., Jones, C. D., Jones, S. J. M., Juhl, H., Kang, K. J., Karlan, B., Kasaian, K., Kebebew, E., Kim, H. K., Korchina, V., Kundra, R., Lai, P. H., Lander, E., Le, X., Lee, D., Levine, D. A., Lewis, L., Ley, T., Li, H. I., Lin, P., Linehan, W. M., Liu, F. F., Lu, Y., Lype, L., Ma, Y., Maglinte, D. T., Mardis, E. R., Marks, J., Marra, M. A., Matthew, T. J., Mayo, M., McCune, K., Meier, S. R., Meng, S., Mieczkowski, P. A., Mikkelsen, T., Miller, C. A., Mills, G. B., Moore, R. A., Morrison, C., Mose, L. E., Moser, C. D., Mungall, A. J., Mungall, K., Mutch, D., Muzny, D. M., Myers, J., Newton, Y., Noble, M. S., O'Donnell, P., O'Neill, B. P., Ochoa, A., Park, J-W., Parker, J. S., Pass, H., Pastore, A., Pennell, N. A., Perou, C. M., Petrelli, N., Potapova, O., Rader, J. S., Ramalingam, S., Rathmell, W. K., Reuter, V., Reynolds, S. M., Ringel, M., Roach, J., Roberts, L. R., Robertson, A. G., Sadeghi, S., Saller, C., Sanchez-Vega, F., Schadendorf, D., Schein, J. E., Schmidt, H. K., Schultz, N., Seethala, R., Senbabaoglu, Y., Shelton, T., Shi, Y., Shih, J., Shmulevich, I., Shriver, C., Signoretti, S., Simons, J., Singer, S., Sipahimalani, P., Skelly, T. J., McCune, K. S., Socci, N. D., Soloway, M. G., Sood, A. K., Tam, A., Tan, D., Tarnuzzer, R., Thiessen, N., Thompson, R. H., Thorne, L. B., Tsao, M., Umbricht, C., Van Den Berg, D. J., Van Meir, E. G., Veluvolu, U., Voet, D., Wang, L., Weinberger, P., Weisenberger, D. J., Wigle, D., Wilkerson, M. D., Wilson, R. K., Winterhoff, B., Wiznerowicz, M., Wong, T., Wong, W., Xi, L., Yau, C., Zhang, H., Zhang, H. & Zhang, J., 6 Feb 2020, In: Nature. 578, 7793, p. 82-+ 50 p.

    Research output: Contribution to journalArticlepeer-review

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  • Population-scale proteome variation in human induced pluripotent stem cells

    HipSci Consortiurn, 10 Aug 2020, In: eLife. 9, 22 p., 57390.

    Research output: Contribution to journalArticlepeer-review

    Open Access
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  • 2018

    Molecular and functional variation in iPSC-derived sensory neurons

    HIPSCI Consortium, Jan 2018, In: Nature Genetics. 50, 1, p. 54-+ 11 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • 2017

    Common genetic variation drives molecular heterogeneity in human iPSCs

    Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, F. P., Ulley, O. J. C., Danecek, P., Faulconbridge, A., Harrison, P. W., Kathuria, A., McCarthy, D., McCarthy, S. A., Meleckyte, R., Memari, Y., Moens, N., Soares, F. & 23 others, Mann, A., Streeter, I., Agu, C. A., Alderton, A., Nelson, R., Harper, S., Patel, M., White, A., Patel, S. R., Clarke, L., Halai, R., Kirton, C. M., Kolb-Kokocinski, A., Beales, P., Birney, E., Danovi, D., Lamond, A. I., Ouwehand, W. H., Vallier, L., Watt, F. M., Durbin, R., Stegle, O. & Gaffney, D. J., 15 Jun 2017, In: Nature. 546, 7658, p. 370-+ 23 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • 2015

    Mondo-Mlx Mediates Organismal Sugar Sensing through the Gli-Similar Transcription Factor Sugarbabe

    Mattila, J., Havula, E., Suominen, E., Teesalu, M., Surakka, I., Hynynen, R., Kilpinen, H., Vaananen, J., Hovatta, I., Kakela, R., Ripatti, S., Sandmann, T. & Hietakangas, V., 13 Oct 2015, In: Cell Reports. 13, 2, p. 350-364 15 p.

    Research output: Contribution to journalArticleScientificpeer-review

    Open Access
    File
  • Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

    Waszak, S. M., Delaneau, O., Gschwind, A. R., Kilpinen, H., Raghav, S. K., Witwicki, R. M., Orioli, A., Wiederkehr, M., Panousis, N. I., Yurovsky, A., Romano-Palumbo, L., Planchon, A., Bielser, D., Padioleau, I., Udin, G., Thurnheer, S., Hacker, D., Hernandez, N., Reymond, A., Deplancke, B. & 1 others, Dermitzakis, E. T., 27 Aug 2015, In: Cell. 162, 5, p. 1039-1050 12 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • 2014

    Allele-specific regulation of DISC1 expression by miR-135b-5p

    Rossi, M., Kilpinen, L. H., Muona, M., Surakka, I., Ingle, C., Lahtinen, J., Hennah, W., Ripatti, S. & Hovatta, I., Jun 2014, In: European Journal of Human Genetics. 22, 6, p. 840-843 4 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • Common variant at 16p11.2 conferring risk of psychosis

    Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., Sigurdsson, E., Vassos, E., Giegling, I., Breuer, R., Fraser, G., Walker, N., Melle, I., Djurovic, S., Agartz, I., Tuulio-Henriksson, A. & 32 others, Suvisaari, J., Lönnqvist, J., Paunio, T., Olsen, L., Hansen, T., Ingason, A., Pirinen, M., Strengman, E., Hougaard, D. M., Orntoft, T., Didriksen, M., Hollegaard, M. V., Nordentoft, M., Abramova, L., Kaleda, V., Arrojo, M., Sanjuan, J., Arango, C., Etain, B., Bellivier, F., Meary, A., Schuerhoff, F., Szoke, A., Ribolsi, M., Magni, V., Siracusano, A., Sperling, S., Rehnstrom, K., Kilpinen, L. H., Palotie, A., GROUP & Wellcome Trust Case Control Consor, Jan 2014, In: Molecular Psychiatry. 19, 1, p. 108-114 7 p.

    Research output: Contribution to journalArticlepeer-review

  • Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

    Waszak, S. M., Kilpinen, H., Gschwind, A. R., Orioli, A., Raghav, S. K., Witwicki, R. M., Migliavacca, E., Yurovsky, A., Lappalainen, T., Hernandez, N., Reymond, A., Dermitzakis, E. T. & Deplancke, B., 15 Jan 2014, In: Bioinformatics. 30, 2, p. 165-171 7 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • Synaptic, transcriptional and chromatin genes disrupted in autism

    De Rubeis, S., He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Cicek, A. E., Kou, Y., Liu, L., Fromer, M., Walker, S., Singh, T., Klei, L., Kosmicki, J., Fu, S-C., Aleksic, B., Biscaldi, M., Bolton, P. F., Brownfeld, J. M., Cai, J., Campbell, N. G. & 34 others, Carracedo, A., Chahrour, M. H., Chiocchetti, A. G., Coon, H., Crawford, E. L., Crooks, L., Curran, S. R., Dawson, G., Duketis, E., Fernandez, B. A., Gallagher, L., Geller, E., Guter, S. J., Hill, R. S., Ionita-Laza, I., Gonzalez, P. J., Kilpinen, H., Klauck, S. M., Kolevzon, A., Lee, I., Lei, J., Lehtimaeki, T., Lin, C-F., Ma'ayan, A., Marshall, C. R., McInnes, A. L., Neale, B., Owen, M. J., Palotie, A., Daly, M. J., DDD Study, Homozygosity Mapping Collaborative, UK10K Consortium & Autism Sequencing Consortium, 13 Nov 2014, In: Nature. 515, 7526, p. 209-U119 16 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • 2013

    Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

    Kilpinen, H., Waszak, S. M., Gschwind, A. R., Raghav, S. K., Witwicki, R. M., Orioli, A., Migliavacca, E., Wiederkehr, M., Gutierrez-Arcelus, M., Panousis, N. I., Yurovsky, A., Lappalainen, T., Romano-Palumbo, L., Planchon, A., Bielser, D., Bryois, J., Padioleau, I., Udin, G., Thurnheer, S., Hacker, D. & 6 others, Core, L. J., Lis, J. T., Hernandez, N., Reymond, A., Deplancke, B. & Dermitzakis, E. T., 8 Nov 2013, In: Science. 342, 6159, p. 744-747 4 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • How next-generation sequencing is transforming complex disease genetics

    Kilpinen, H. & Barrett, J. C., Jan 2013, In: Trends in Genetics. 29, 1, p. 23-30 8 p.

    Research output: Contribution to journalReview ArticleScientificpeer-review

  • Reelin Associated With Restricted and Stereotyped Behavior Based on Principal Component Analysis on Autism Diagnostic Interview-Revised

    Roine, U., Ripatti, S., Rehnström, K., Roine, T., Kilpinen, H., Surakka, I., Wedenoja, J., Ylisaukko-oja, T., Kempas, E. I., Wessman, J., Moilanen, I., Mattila, M-L., Kielinen, M., Jussila, K. K., Suomalainen, S., Pulkkinen, E., Wendt, L. V. & Peltonen, L., 2013, In: Autism - Open Access. 3, 1, 9 p.

    Research output: Contribution to journalArticleScientificpeer-review

    Open Access
    File
  • 2012

    Genetic and epigenetic contribution to complex traits

    Kilpinen, H. & Dermitzakis, E. T., 15 Oct 2012, In: Human Molecular Genetics. 21, p. R24-R28 5 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • 2009

    Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland

    Kilpinen, H., Ylisaukko-oja, T., Rehnström, K., Gaal, E., Turunen, J. A., Kempas, E., Wendt von, L., Varilo, T. & Peltonen, L., 2009, In: Human Molecular Genetics. 18, 15, p. 2912-2921 10 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • 2008

    Association of DISC1 with autism and Asperger syndrome

    Kilpinen, H., Ylisaukko-oja, T., Hennah, W., Palo, O., Varilo, T., Vanhala, R., Nieminen- von Wendt, T., Wendt, L. V., Paunio, T. & Peltonen, L., 2008, In: Molecular Psychiatry. 13, 2, p. 187-196 10 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene Is Associated With Autism

    Turunen, J. A., Rehnstrom, K., Kilpinen, H., Kuokkanen, M., Kempas, E. & Ylisaukko-oja, T., Jun 2008, In: Autism Research. 1, 3, p. 189-192 4 p.

    Research output: Contribution to journalArticleScientificpeer-review

  • 2007

    Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments

    Palo, O., Antila, M., Silander, K., Hennah, W., Kilpinen, H., Soronen, P., Tuulio-Henriksson, A., Kieseppä, T., Partonen, T., Lönnqvist, J., Peltonen, L. & Paunio, T., 2007, In: Human Molecular Genetics. 16, 20, p. 3517-3528 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1

    Hennah, W., Tomppo, L., Hiekkalinna, T., Palo, O., Kilpinen, H., Ekelund, J., Tuulio-Henriksson, A., Silander, K., Partonen, T., Paunio, T., Terwilliger, J. D., Lönnqvist, J. & Peltonen, L., 2007, In: Human Molecular Genetics. 16, 5, p. 453-462 10 p.

    Research output: Contribution to journalArticlepeer-review

  • 2006

    Association analysis of SLC25A12 and EN2 in the Finnish families with autism-spectrum disorders

    Turunen, J., Ylisaukko-oja, T., Kilpinen, H., Rehnstrom, K., Kempas, E., Vanhala, R., Wendt, T. N., von Wendt, L. & Peltonen, L., 5 Oct 2006, In: American journal of medical genetics. Part B, Neuropsychiatric genetics. 141B, 7, p. 766-766 1 p.

    Research output: Contribution to journalMeeting AbstractResearchpeer-review

  • Haplotype association studies of the DISC1 gene in Finnish bipolar families

    Palo, O. M., Hennah, W., Kilpinen, H., Silander, K., Soronen, P., Antila, M., Tuulio-Henriksson, A., Kieseppa, T., Partonen, T., Lonnqvist, J., Peltonen, L. & Paunio, T., 5 Oct 2006, In: American journal of medical genetics. Part B, Neuropsychiatric genetics. 141B, 7, p. 696-696 1 p.

    Research output: Contribution to journalMeeting Abstractpeer-review

  • 2005