Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Authors: Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Boßelmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H.T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Nobili, Lino, Amadori, Elisabetta, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry Zgheib, Nathalie, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, YeşÇiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., Goldstein, David B.

Source: In The American Journal of Human Genetics 3 June 2021 108(6):965-982

Properties of Gd-Doped Sol-Gel Silica Glass Radioluminescence under Electron Beams.

Authors: Söderström, Daniel¹ (AUTHOR) daniel.p.soderstrom@jyu.fi, Timonen, Oskari¹ (AUTHOR), Kettunen, Heikki¹ (AUTHOR), Kronholm, Risto¹ (AUTHOR), El Hamzaoui, Hicham² (AUTHOR) daniel.p.soderstrom@jyu.fi, Capoen, Bruno² (AUTHOR), Ouerdane, Youcef³ (AUTHOR), Morana, Adriana³ (AUTHOR), Javanainen, Arto¹ (AUTHOR), Bouwmans, Géraud² (AUTHOR), Bouazaoui, Mohamed² (AUTHOR), Girard, Sylvain³ (AUTHOR)

Source: Sensors (14248220). Dec2022, Vol. 22 Issue 23, p9248. 16p.

Subject Terms: *FUSED silica, *CHERENKOV radiation, *RADIOLUMINESCENCE, *ELECTRON beams, *OPTICAL spectra, *PHOTON beams, *OPTICALLY stimulated luminescence, *POLYMER colloids

Novel LAMC3pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy

Authors: Saarela, Anni, Timonen, Oskari, Kirjavainen, Jarkko, Liu, Yawu, Silvennoinen, Katri, Mervaala, Esa, Kälviäinen, Reetta

Source: Epileptic Disorders; August 2024, Vol. 26 Issue: 4 p498-509, 12p

Time-resolved measurement of optical emission line profiles from electron cyclotron resonance ion source plasma.

Authors: Timonen, Oskari, Koivisto, Hannu, Kronholm, Risto, Toivanen, Ville

Source: Journal of Physics: Conference Series; 2024, Vol. 2743 Issue 1, p1-5, 5p

The Postprandial Plasma Rye Fingerprint Includes Benzoxazinoid-Derived Phenylacetamide Sulfates

Authors: Hanhineva, Kati ^*, Keski-Rahkonen, Pekka, Lappi, Jenni, Katina, Kati, Pekkinen, Jenna, Savolainen, Otto, Timonen, Oskari, Paananen, Jussi, Mykkänen, Hannu, Poutanen, Kaisa

Source: In The Journal of Nutrition July 2014 144(7):1016-1022

Varanto: variant enrichment analysis and annotation.

Authors: Timonen, Oskari¹ (AUTHOR) oskari.timonen@uef.fi, Särkkä, Mikko² (AUTHOR), Fülöp, Tibor² (AUTHOR), Mattsson, Anton² (AUTHOR), Kekäläinen, Juha² (AUTHOR), Paananen, Jussi² (AUTHOR)

Source: Bioinformatics. Sep2019, Vol. 35 Issue 17, p3154-3156. 3p.

Subject Terms: *INTERNET servers, *HUMAN genetic variation, *WEB-based user interfaces, *ANNOTATIONS, *SOURCE code

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