The SPINK gene family and celiac disease susceptibility

por Wapenaar, Martin C., Monsuur, Alienke J., Poell, Jos, van ‘t Slot, Ruben, Meijer, Jos W. R., Meijer, Gerrit A., Mulder, Chris J., Mearin, Maria Luisa, Wijmenga, Cisca
Publicado 2007

Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids

por Dirkx, N., Weuring, Wout J., De Vriendt, E., Smal, N., van de Vondervoort, J., van ’t Slot, Ruben, Koetsier, M., Zonnekein, N., De Pooter, Tim, Weckhuysen, S., Koeleman, B. P. C.
Publicado 2023

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome

por Weuring, Wout J., Singh, Sakshi, Volkers, Linda, Rook, Martin B., van ‘t Slot, Ruben H., Bosma, Marjolein, Inserra, Marco, Vetter, Irina, Verhoeven-Duif, Nanda M., Braun, Kees P. J., Rivara, Mirko, Koeleman, Bobby P. C.
Publicado 2020

Modifier genes in SCN1A‐related epilepsy syndromes

por de Lange, Iris M., Mulder, Flip, van 't Slot, Ruben, Sonsma, Anja C. M., van Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado 2020

Genome-Wide Association Scan in HIV-1-Infected Individuals Identifying Variants Influencing Disease Course

por van Manen, Daniëlle, Delaneau, Olivier, Kootstra, Neeltje A., Boeser-Nunnink, Brigitte D., Limou, Sophie, Bol, Sebastiaan M., Burger, Judith A., Zwinderman, Aeilko H., Moerland, Perry D., van 't Slot, Ruben, Zagury, Jean-François, van 't Wout, Angélique B., Schuitemaker, Hanneke
Publicado 2011

Genome-Wide Association Study Identifies Single Nucleotide Polymorphism in DYRK1A Associated with Replication of HIV-1 in Monocyte-Derived Macrophages

por Bol, Sebastiaan M., Moerland, Perry D., Limou, Sophie, van Remmerden, Yvonne, Coulonges, Cédric, van Manen, Daniëlle, Herbeck, Joshua T., Fellay, Jacques, Sieberer, Margit, Sietzema, Jantine G., van 't Slot, Ruben, Martinson, Jeremy, Zagury, Jean-François, Schuitemaker, Hanneke, van 't Wout, Angélique B.
Publicado 2011

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

por Kloosterman, Wigard P, Hoogstraat, Marlous, Paling, Oscar, Tavakoli-Yaraki, Masoumeh, Renkens, Ivo, Vermaat, Joost S, van Roosmalen, Markus J, van Lieshout, Stef, Nijman, Isaac J, Roessingh, Wijnand, van 't Slot, Ruben, van de Belt, José, Guryev, Victor, Koudijs, Marco, Voest, Emile, Cuppen, Edwin
Publicado 2011

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population

por de Kovel, Carolien G., Mulder, Flip, van Setten, Jessica, van ‘t Slot, Ruben, Al-Rubaish, Abdullah, Alshehri, Abdullah M., Al Faraidy, Khalid, Al-Ali, Abdullah, Al-Madan, Mohammed, Al Aqaili, Issa, Larbi, Emmanuel, Al-Ali, Rudaynah, Alzahrani, Alhusain, Asselbergs, Folkert W., Koeleman, Bobby P. C., Al-Ali, Amein
Publicado 2016

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes

por de Lange, Iris M., Weuring, Wout, van ‘t Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., McCormack, Mark, de Kovel, Carolien, van Gemert, Lisette J. J. M., Mulder, Flip, van Kempen, Marjan J. A., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado 2019

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

por van Daalen, Emma, Kemner, Chantal, Verbeek, Nienke E., van der Zwaag, Bert, Dijkhuizen, Trijnie, Rump, Patrick, Houben, Renske, van ‘t Slot, Ruben, de Jonge, Maretha V., Staal, Wouter G., Beemer, Frits A., Vorstman, Jacob A. S., Burbach, J. Peter H., van Amstel, Hans Kristian Ploos, Hochstenbach, Ron, Brilstra, Eva H., Poot, Martin
Publicado 2011

Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer

por Hoogstraat, Marlous, de Pagter, Mirjam S., Cirkel, Geert A., van Roosmalen, Markus J., Harkins, Timothy T., Duran, Karen, Kreeftmeijer, Jennifer, Renkens, Ivo, Witteveen, Petronella O., Lee, Clarence C., Nijman, Isaac J., Guy, Tanisha, van ’t Slot, Ruben, Jonges, Trudy N., Lolkema, Martijn P., Koudijs, Marco J., Zweemer, Ronald P., Voest, Emile E., Cuppen, Edwin, Kloosterman, Wigard P.
Publicado 2014

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration

por Baas, Dominique C., Ho, Lintje, Tanck, Michael W.T., Fritsche, Lars G., Merriam, Joanna E., van het Slot, Ruben, Koeleman, Bobby P.C., Gorgels, Theo G.M.F., van Duijn, Cornelia M., Uitterlinden, André G., de Jong, Paulus T.V.M., Hofman, Albert, ten Brink, Jacoline B., Vingerling, Johannes R., Klaver, Caroline C.W., Dean, Michael, Weber, Bernhard H. F., Allikmets, Rando, Hageman, Gregory S., Bergen, Arthur A.B.
Publicado 2012

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

por van der Zwaag, Bert, Franke, Lude, Poot, Martin, Hochstenbach, Ron, Spierenburg, Henk A., Vorstman, Jacob A. S., van Daalen, Emma, de Jonge, Maretha V., Verbeek, Nienke E., Brilstra, Eva H., van 't Slot, Ruben, Ophoff, Roel A., van Es, Michael A., Blauw, Hylke M., Veldink, Jan H., Buizer-Voskamp, Jacobine E., Beemer, Frits A., van den Berg, Leonard H., Wijmenga, Cisca, van Amstel, Hans Kristian Ploos, van Engeland, Herman, Burbach, J. Peter H., Staal, Wouter G.
Publicado 2009

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

por de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Publicado 2016

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

por de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber
Publicado 2016

Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

por Gorlova, Olga, Martin, Jose-Ezequiel, Rueda, Blanca, Koeleman, Bobby P. C., Ying, Jun, Teruel, Maria, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Vonk, Madelon C., Simeon, Carmen P., Alizadeh, Behrooz Z., Coenen, Marieke J. H., Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L. C. M., Vanthuyne, Marie, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Hunzelmann, Nicolas, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., González-Escribano, María F., Airo, Paolo, van Laar, Jacob, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul G., Westhovens, Rene, Kreuter, Alexander, de Baere, Elfride, Witte, Torsten, Padyukov, Leonid, Nordin, Annika, Scorza, Raffaella, Lunardi, Claudio, Lie, Benedicte A., Hoffmann-Vold, Anna-Maria, Palm, Øyvind, García de la Peña, Paloma, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Gourh, Pravitt, Amos, Christopher I., Wigley, Frederick M., Hummers, Laura K., Hummers, J., Nelson, J. Lee, Riemekasten, Gabriella, Herrick, Ariane, Beretta, Lorenzo, Fonseca, Carmen, Denton, Christopher P., Gregersen, Peter K., Agarwal, Sandeep, Assassi, Shervin, Tan, Filemon K., Arnett, Frank C., Radstake, Timothy R. D. J., Mayes, Maureen D., Martin, Javier
Publicado 2011

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

por Gorlova, Olga, Martin, Jose-Ezequiel, Rueda, Blanca, Koeleman, Bobby P. C., Ying, Jun, Teruel, Maria, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Vonk, Madelon C., Simeon, Carmen P., Alizadeh, Behrooz Z., Coenen, Marieke J. H., Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L. C. M., Vanthuyne, Marie, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Hunzelmann, Nicolas, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., González-Escribano, María F., Airo, Paolo, van Laar, Jacob, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul G., Westhovens, Rene, Kreuter, Alexander, de Baere, Elfride, Witte, Torsten, Padyukov, Leonid, Nordin, Annika, Scorza, Raffaella, Lunardi, Claudio, Lie, Benedicte A., Hoffmann-Vold, Anna-Maria, Palm, Øyvind, García de la Peña, Paloma, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Gourh, Pravitt, Amos, Christopher I., Wigley, Frederick M., Hummers, Laura K., Nelson, J. Lee, Riemekasten, Gabriella, Herrick, Ariane, Beretta, Lorenzo, Fonseca, Carmen, Denton, Christopher P., Gregersen, Peter K., Agarwal, Sandeep, Assassi, Shervin, Tan, Filemon K., Arnett, Frank C., Radstake, Timothy R. D. J., Mayes, Maureen D., Martin, Javier
Publicado 2011

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

por Gorlova, Olga, Martin, Jose-Ezequiel, Rueda, Blanca, Koeleman, Bobby P. C., Ying, Jun, Teruel, Maria, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Vonk, Madelon C., Simeon, Carmen P., Alizadeh, Behrooz Z., Coenen, Marieke J. H., Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L. C. M., Vanthuyne, Marie, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Hunzelmann, Nicolas, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., González-Escribano, María F., Airo, Paolo, van Laar, Jacob, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul G., Westhovens, Rene, Kreuter, Alexander, de Baere, Elfride, Witte, Torsten, Padyukov, Leonid, Nordin, Annika, Scorza, Raffaella, Lunardi, Claudio, Lie, Benedicte A., Hoffmann-Vold, Anna-Maria, Palm, Øyvind, García de la Peña, Paloma, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Lee, Annette T., Gourh, Pravitt, Amos, Christopher I., Wigley, Frederick M., Hummers, Laura K., Nelson, J. Lee, Riemekasten, Gabriella, Herrick, Ariane, Beretta, Lorenzo, Fonseca, Carmen, Denton, Christopher P., Gregersen, Peter K., Agarwal, Sandeep, Assassi, Shervin, Tan, Filemon K., Arnett, Frank C., Radstake, Timothy R. D. J., Mayes, Maureen D., Martin, Javier
Publicado 2011