Identification of candidate genes for developmental colour agnosia in a single unique family
Nijboer, Tanja C. W, Hessel, Ellen V. S, van Haaften, Gijs W, van Zandvoort, Martine J, van der Spek, Peter J, Troelstra, Christine, de Kovel, Carolien G. F, Koeleman, Bobby P. C, van der Zwaag, Bert, Brilstra, Eva H, Burbach, J. Peter H
Published in PloS one (06.09.2023)
Published in PloS one (06.09.2023)
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A gene co-expression network in whole blood of schizophrenia patients is independent of antipsychotic-use and enriched for brain-expressed genes
de Jong, Simone, Boks, Marco P M, Fuller, Tova F, Strengman, Eric, Janson, Esther, de Kovel, Carolien G F, Ori, Anil P S, Vi, Nancy, Mulder, Flip, Blom, Jan Dirk, Glenthøj, Birte, Schubart, Chris D, Cahn, Wiepke, Kahn, René S, Horvath, Steve, Ophoff, Roel A
Published in PloS one (27.06.2012)
Published in PloS one (27.06.2012)
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Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects
van Eijk, Kristel R, de Jong, Simone, Boks, Marco P M, Langeveld, Terry, Colas, Fabrice, Veldink, Jan H, de Kovel, Carolien G F, Janson, Esther, Strengman, Eric, Langfelder, Peter, Kahn, René S, van den Berg, Leonard H, Horvath, Steve, Ophoff, Roel A
Published in BMC genomics (17.11.2012)
Published in BMC genomics (17.11.2012)
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A large-scale population study of early life factors influencing left-handedness
de Kovel, Carolien G. F., Carrión-Castillo, Amaia, Francks, Clyde
Published in Scientific reports (24.01.2019)
Published in Scientific reports (24.01.2019)
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Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection
Zhernakova, Alexandra, Elbers, Clara C., Ferwerda, Bart, Romanos, Jihane, Trynka, Gosia, Dubois, Patrick C., de Kovel, Carolien G.F., Franke, Lude, Oosting, Marije, Barisani, Donatella, Bardella, Maria Teresa, Joosten, Leo A.B., Saavalainen, Paivi, van Heel, David A., Catassi, Carlo, Netea, Mihai G., Wijmenga, Cisca
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains
de Kovel, Carolien G. F., Lisgo, Steven N., Fisher, Simon E., Francks, Clyde
Published in Scientific reports (04.09.2018)
Published in Scientific reports (04.09.2018)
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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
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 in Neurology (07.06.2016)
Published in Neurology (07.06.2016)
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Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients
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 in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
de Kovel, Carolien G F, Syrbe, Steffen, Brilstra, Eva H, Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K, Krok, Bryan L, Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R, van den Boogaardt, Marie-José, Møller, Rikke S, Koeleman, Bobby P C
Published in JAMA neurology (01.10.2017)
Published in JAMA neurology (01.10.2017)
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Variants in neuropeptide Y receptor 1 and 5 are associated with nutrient-specific food intake and are under recent selection in Europeans
Elbers, Clara C, de Kovel, Carolien G F, van der Schouw, Yvonne T, Meijboom, Juliaan R, Bauer, Florianne, Grobbee, Diederick E, Trynka, Gosia, van Vliet-Ostaptchouk, Jana V, Wijmenga, Cisca, Onland-Moret, N Charlotte
Published in PloS one (17.09.2009)
Published in PloS one (17.09.2009)
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Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
Lal, Dennis, Trucks, Holger, Møller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Kovel, Carolien G. F., Visscher, Frank, Weber, Yvonne G., Lerche, Holger, Becker, Felicitas, Schankin, Christoph J., Neubauer, Bernd A., Surges, Rainer, Kunz, Wolfram S., Zimprich, Fritz, Franke, Andre, Illig, Thomas, Ried, Janina S., Leu, Costin, Nürnberg, Peter, Sander, Thomas
Published in Epilepsia (Copenhagen) (01.02.2013)
Published in Epilepsia (Copenhagen) (01.02.2013)
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Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia
Klein, Karl Martin, Pendziwiat, Manuela, Cohen, Rony, Appenzeller, Silke, de Kovel, Carolien G. F., Rosenow, Felix, Koeleman, Bobby P. C., Kuhlenbäumer, Gregor, Sheintuch, Liron, Veksler, Ronel, Friedman, Alon, Afawi, Zaid, Helbig, Ingo
Published in Journal of neurology (01.01.2016)
Published in Journal of neurology (01.01.2016)
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The phenotypic spectrum of SCN8A encephalopathy
Larsen, Jan, Carvill, Gemma L, Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A, Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M, Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G F, Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Møller, Rikke S
Published in Neurology (03.02.2015)
Published in Neurology (03.02.2015)
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Association Study of TRPC4 as a Candidate Gene for Generalized Epilepsy with Photosensitivity
von Spiczak, Sarah, Muhle, Hiltrud, Helbig, Ingo, de Kovel, Carolien G. F., Hampe, Jochen, Gaus, Verena, Koeleman, Bobby P. C., Lindhout, Dick, Schreiber, Stefan, Sander, Thomas, Stephani, Ulrich
Published in Neuromolecular medicine (01.09.2010)
Published in Neuromolecular medicine (01.09.2010)
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Schubert, Julian, Siekierska, Aleksandra, Langlois, Mélanie, May, Patrick, Huneau, Clément, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid, Lemke, Johannes R, de Kovel, Carolien G F, Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R, Sander, Thomas, Rüschendorf, Franz, Caliebe, Almuth, Nagel, Inga, Kohl, Bernard, Kecskés, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H, Baulac, Stephanie, Møller, Rikke S, Hjalgrim, Helle, Koeleman, Bobby P C, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Roach, Jared C, Glusman, Gustavo, Hood, Leroy, Galas, David J, Martin, Benoit, de Witte, Peter A M, Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo, Balling, Rudi, Nürnberg, Peter, Crawford, Alexander D, Esguerra, Camila V, Weber, Yvonne G, Lerche, Holger
Published in Nature genetics (01.12.2014)
Published in Nature genetics (01.12.2014)
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