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dr. Evita van den Herik

  • Source: Scopus
20092021

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  • 2911 Citations
  • 13 Article
  • 1 Doctoral Thesis

  • Prevalence of bladder and bowel dysfunction in duchenne muscular dystrophy using the childhood bladder and bowel dysfunction questionnaire

    Lionarons, J. M., de Groot, I. J. M., Fock, J. M., Klinkenberg, S., Vrijens, D. M. J., Vreugdenhil, A. C. E., Medici-Van Den Herik, E. G., Cuppen, I., Jaeger, B., Niks, E. H., Hoogerhuis, R., Platte-Van Attekum, N., Feron, F. J. M., Faber, C. G., Hendriksen, J. G. M. & Vles, J. S. H., 30 Jul 2021, In: Life. 11, 8, 772.

    Research output: Contribution to journal › Article › Professional

    Open Access

  • Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

    Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W., Alsagob, M., Capo, I., Linde, H., Berg, P., Jacobs, EH., Putar, D., Ghazvini, M., Ijcken, W., Valk, W., Slegtenhorst, M., Herik, E., Brooks, A., Ham, T. & Barakat, S., 2020, In: Acta Neuropathologica. 139, 3, p. 415-442 28 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    21 Citations (Scopus)
    1 Downloads (Pure)

  • Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase

    Zevenbergen, C., Groeneweg, S., Swagemakers, S., Jong, AC., Medici - van den Herik, E., Rispens, M., Klootwijk, W., Medici, M., de Rijke, Y., Meima, M., Larsen, PR., Chavatte, L., Venter, D., Peeters, R., van der Spek, P. & Visser, E., 2019, In: Journal of Clinical Endocrinology and Metabolism. 104, 5, p. 1369-1377 9 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    3 Citations (Scopus)

  • Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection

    Debette, S., Kamatani, Y., Metso, TM., Kloss, M., Chauhan, G., Engelter, ST., Pezzini, A., Thijs, V., Markus, HS., Dichgans, M., Wolf, C., Dittrich, R., Touze, E., Southerland, AM., Samson, Y., Abboud, S., Bejot, Y., Caso, V., Bersano, A., Gschwendtner, A. & 48 others, Sessa, M., Cole, J., Lamy, C., Medeiros, E., Beretta, S., Bonati, LH., Grau, AJ., Michel, P., Majersik, JJ., Sharma, P., Kalashnikova, L., Nazarova, M., Dobrynina, L., Bartels, E., Guillon, B., Medici - van den Herik, E., Fernandez-Cadenas, I., Jood, K., Nalls, MA., Leeuw, FE., Jern, C., Cheng, YC., Werner, I., Metso, AJ., Lichy, C., Lyrer, PA., Brandt, T., Boncoraglio, GB., Wichmann, HE., Gieger, C., Johnson, AD., Bottcher, T., Castellano, M., Arveiler, D., Ikram, A., Breteler, M., Padovani, A., Meschia, JF., Kuhlenbaumer, G., Rolfs, A., Worrall, BB., Ringelstein, EB., Zelenika, D., Tatlisumak, T., Lathrop, M., Leys, D., Amouyel, P. & Dallongeville, J., 2015, In: Nature Genetics. 47, 1, p. 78-83 6 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    138 Citations (Scopus)

  • Common variants associated with plasma triglycerides and risk for coronary artery disease

    Do, R., Willer, CJ., Schmidt, EM., Sengupta, S., Gao, C., Peloso, GM., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., Buchkovich, ML., Mora, S., Beckmann, JS., Bragg-Gresham, JL., Chang, HY., Demirkan, A., den Hertog, HM., Donnelly, LA., Ehret, GB., Esko, T. & 243 others, Feitosa, MF., Ferreira, T., Fischer, K., Fontanillas, P., Fraser, RM., Freitag, DF., Gurdasani, D., Heikkila, K., Hypponen, E., Isaacs, A., Jackson, AU., Johansson, A., Johnson, T., Kaakinen, M., Kettunen, J., Kleber, ME., Li, XH., Luan, JA., Lyytikainen, LP., Magnusson, PKE., Mangino, M., Mihailov, E., Montasser, ME., Muller-Nurasyid, M., Nolte, IM., O'Connell, JR., Palmer, CD., Perola, M., Petersen, AK., Sanna, S., Saxena, R., Service, SK., Shah, S., Shungin, D., Sidore, C., Song, C., Strawbridge, RJ., Surakka, I., Tanaka, T., Teslovich, TM., Thorleifsson, G., Medici - van den Herik, E., Voight, BF., Volcik, KA., Waite, LL., Wong, A., Wu, F., Zhang, WH., Absher, D., Asiki, G., Barroso, I., Been, L., Bolton, JL., Bonnycastle, LL., Brambilla, P., Burnett, MS., Cesana, G., Dimitriou, M., Doney, ASF., Doring, A., Elliott, P., Epstein, SE., Eyjolfsson, GI., Gigante, B., Goodarzi, MO., Grallert, H., Gravito, ML., Groves, CJ., Hallmans, G., Hartikainen, AL., Hayward, C., Hernandez, D., Hicks, AA., Holm, H., Hung, YJ., Illig, T., Jones, MR., Kaleebu, P., Kastelein, JJP., Khaw, KT., Kim, E., Klopp, N., Komulainen, P., Kumari, M., Langenberg, C., Lehtimaki, T., Lin, SY., Lindstrom, J., Loos, RJF., Mach, F., McArdle, WL., Meisinger, C., Mitchell, BD., Muller, G., Nagaraja, R., Narisu, N., Nieminen, TVM., Nsubuga, RN., Olafsson, I., Ong, KK., Palotie, A., Papamarkou, T., Pomilla, C., Pouta, A., Rader, DJ., Reilly, MP., Ridker, PM., Rivadeneira, F., Rudan, I., Ruokonen, A., Samani, N., Scharnagl, H., Seeley, J., Silander, K., Stancakova, A., Stirrups, K., Swift, AJ., Tiret, L., Uitterlinden, A., van Pelt, LJ., Vedantam, S., Wainwright, N., Wijmenga, C., Wild, SH., Willemsen, G., Wilsgaard, T., Wilson, JF., Young, EH., Zhao, JH., Adair, LS., Arveiler, D., Assimes, TL., Bandinelli, S., Bennett, F., Bochud, M., Boehm, BO., Boomsma, DI., Borecki, IB., Bornstein, SR., Bovet, P., Burnier, M., Campbell, H., Chakravarti, A., Chambers, JC., Chen, YDI., Collins, FS., Cooper, RS., Danesh, J., Dedoussis, G., de Faire, U., Feranil, AB., Ferrieres, J., Ferrucci, L., Freimer, NB., Gieger, C., Groop, LC., Gudnason, V., Gyllensten, U., Hamsten, A., Harris, TB., Hingorani, A., Hirschhorn, JN., Hofman, B., Hovingh, GK., Hsiung, CA., Humphries, SE., Hunt, SC., Hveem, K., Iribarren, C., Jarvelin, MR., Jula, A., Kahonen, M., Kaprio, J., Kesaniemi, A., Kivimaki, M., Kooner, JS., Koudstaal, P., Krauss, RM., Kuh, D., Kuusisto, J., Kyvik, KO., Laakso, M., Lakka, TA., Lind, L., Lindgren, CM., Martin, NG., Marz, W., McCarthy, MI., McKenzie, CA., Meneton, P., Metspalu, A., Moilanen, L., Morris, AD., Munroe, PB., Njolstad, I., Pedersen, NL., Power, C., Pramstaller, PP., Price, JF., Psaty, BM., Quertermous, T., Rauramaa, R., Saleheen, D., Salomaa, V., Sanghera, DK., Saramies, J., Schwarz, PEH., Sheu, WHH., Shuldiner, AR., Siegbahn, A., Spector, TD., Stefansson, K., Strachan, DP., Tayo, BO., Tremoli, E., Tuomilehto, J., Uusitupa, M., Duijn, C., Vollenweider, P., Wallentin, L., Wareham, NJ., Whitfield, JB., Wolffenbuttel, BHR., Altshuler, D., Ordovas, JM., Boerwinkle, E., Palmer, CNA., Thorsteinsdottir, U., Chasman, DI., Rotter, JI., Franks, PW., Ripatti, S., Cupples, LA., Sandhu, MS., Rich, SS., Boehnke, M., Deloukas, P., Mohlke, KL., Ingelsson, E., Abecasis, GR., Daly, MJ., Neale, BM. & Kathiresan, S., 2013, In: Nature Genetics. 45, 11, p. 1345-+

    Research output: Contribution to journal › Article › Academic › peer-review

    565 Citations (Scopus)
View all 14 research outputs