Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux

by van Eerde, Albertien M., Koeleman, Bobby P. C., van de Kamp, Jiddeke M., de Jong, Tom P. V. M., Wijmenga, Cisca, Giltay, Jacques C.
Published 2007

Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation

by Volkers, Linda, Kahlig, Kristopher M., Das, Joost H.G., van Kempen, Marjan J.A., Lindhout, Dick, Koeleman, Bobby P.C., Rook, Martin B.
Published 2013

A Genome-Wide Investigation of Copy Number Variation in Patients with Sporadic Brain Arteriovenous Malformation

by Bendjilali, Nasrine, Kim, Helen, Weinsheimer, Shantel, Guo, Diana E., Kwok, Pui-Yan, Zaroff, Jonathan G., Sidney, Stephen, Lawton, Michael T., McCulloch, Charles E., Koeleman, Bobby P. C., Klijn, Catharina J. M., Young, William L., Pawlikowska, Ludmila
Published 2013

Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients

by van Eerde, Albertien M., Duran, Karen, van Riel, Els, de Kovel, Carolien G. F., Koeleman, Bobby P. C., Knoers, Nine V. A. M., Renkema, Kirsten Y., van der Horst, Henricus J. R., Bökenkamp, Arend, van Hagen, Johanna M., van den Berg, Leonard H., Wolffenbuttel, Katja P., van den Hoek, Joop, Feitz, Wouter F., de Jong, Tom P. V. M., Giltay, Jacques C., Wijmenga, Cisca
Published 2012

Intronic Polymorphisms in the CDKN2B-AS1 Gene Are Strongly Associated with the Risk of Myocardial Infarction and Coronary Artery Disease in the Saudi Population

by AbdulAzeez, Sayed, Al-Nafie, Awatif N., Al-Shehri, Abdullah, Borgio, J. Francis, Baranova, Ekaterina V., Al-Madan, Mohammed S., Al-Ali, Rudaynah A., Al-Muhanna, Fahad, Al-Ali, Abdullah, Al-Mansori, Mohammed, Ibrahim, Mohammed Fakhry, Asselbergs, Folkert W., Keating, Brendan, Koeleman, Bobby P. C., Al-Ali, Amein K.
Published 2016

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

by Boerma, Ragna S., Braun, Kees P., van de Broek, Maarten P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.
Published 2015

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

by 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
Published 2016

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

by 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.
Published 2012

Identification of Srp9 as a febrile seizure susceptibility gene

by Hessel, Ellen V S, de Wit, Marina, Wolterink-Donselaar, Inge G, Karst, Henk, de Graaff, Esther, van Lith, Hein A, de Bruijn, Ewart, de Sonnaville, Sophietje, Verbeek, Nienke E, Lindhout, Dick, de Kovel, Carolien G F, Koeleman, Bobby P C, van Kempen, Marjan, Brilstra, Eva, Cuppen, Edwin, Loos, Maarten, Spijker, Sabine S, Kan, Anne A, Baars, Susanne E, van Rijen, Peter C, Gosselaar, Peter H, Groot Koerkamp, Marian J A, Holstege, Frank C P, van Duijn, Cornelia, Vergeer, Jeanette, Moll, Henriette A, Taubøll, Erik, Heuser, Kjell, Ramakers, Geert M J, Pasterkamp, R Jeroen, van Nieuwenhuizen, Onno, Hoogenraad, Casper C, Kas, Martien J H, de Graan, Pierre N E
Published 2014

CHD2 variants are a risk factor for photosensitivity in epilepsy

by Galizia, Elizabeth C., Myers, Candace T., Leu, Costin, de Kovel, Carolien G. F., Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G., Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V., Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S., Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L., Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G., Mullen, Saul A., Berkovic, Samuel F., Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D., Esguerra, Camila V., Kasteleijn-Nolst Trenité, Dorothee G. A., Koeleman, Bobby P. C., Mefford, Heather C., Scheffer, Ingrid E., Sisodiya, Sanjay M.
Published 2015

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

by 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
Published 2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

by Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Published 2016

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

by Prins, Bram. P., Abbasi, Ali, Wong, Anson, Vaez, Ahmad, Nolte, Ilja, Franceschini, Nora, Stuart, Philip E., Guterriez Achury, Javier, Mistry, Vanisha, Bradfield, Jonathan P., Valdes, Ana M., Bras, Jose, Shatunov, Aleksey, Lu, Chen, Han, Buhm, Raychaudhuri, Soumya, Bevan, Steve, Mayes, Maureen D., Tsoi, Lam C., Evangelou, Evangelos, Nair, Rajan P., Grant, Struan F. A., Polychronakos, Constantin, Radstake, Timothy R. D., van Heel, David A., Dunstan, Melanie L., Wood, Nicholas W., Al-Chalabi, Ammar, Dehghan, Abbas, Hakonarson, Hakon, Markus, Hugh S., Elder, James T., Knight, Jo, Arking, Dan E., Spector, Timothy D., Koeleman, Bobby P. C., van Duijn, Cornelia M., Martin, Javier, Morris, Andrew P., Weersma, Rinse K., Wijmenga, Cisca, Munroe, Patricia B., Perry, John R. B., Pouget, Jennie G., Jamshidi, Yalda, Snieder, Harold, Alizadeh, Behrooz Z.
Published 2016

Pitfalls in genetic testing: the story of missed SCN1A mutations

by Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Published 2016

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

by 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
Published 2011

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

by 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
Published 2011

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

by 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
Published 2011

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

by Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Published 2013