Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
de Kovel, Carolien G.F, Meisler, Miriam H, Brilstra, Eva H, van Berkestijn, Frederique M.C, Slot, Ruben van ‘t, van Lieshout, Stef, Nijman, Isaac J, O’Brien, Janelle E, Hammer, Michael F, Estacion, Mark, Waxman, Stephen G, Dib-Hajj, Sulayman D, Koeleman, Bobby P.C
Published in Epilepsy research (01.11.2014)
Published in Epilepsy research (01.11.2014)
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Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up
MARTIN, Jose-Ezequiel, BROEN, Jasper C, ORTEGO-CENTENO, Norberto, GONZALEZ-GAY, Miguel A, GARCIA-HERNANDEZ, Francisco J, DE LA PENA, Paloma Garcia, CARREIRA, Patricia, VOSKUYL, Alexandre E, SCHUERWEGH, Annemie J, RIEL, Piet L. C. M. Van, KREUTER, Alexander, WITTE, Torsten, CARMONA, F. David, RIEMEKASTEN, Gabriella, AIRO, Paolo, SCORZA, Raffaella, LUNARDI, Claudio, HUNZELMANN, Nicolas, DISTLER, Jörg H. W, BERETTA, Lorenzo, LAAR, Jacob Van, MENG MAY CHEE, WORTHINGTON, Jane, TERUEL, Maria, HERRICK, Ariane, DENTON, Christopher, TAN, Filemon K, ARNETT, Frank C, ASSASSI, Shervin, FONSECA, Carmen, MAYES, Maureen D, RADSTAKE, Timothy R. D. J, KOELEMAN, Bobby P. C, MARTIN, Javier, SIMEON, Carmen P, VONK, Madelon C, VAN'T SLOT, Ruben, RODRIGUEZ-RODRIGUEZ, Luis, VICENTE, Esther, FONOLLOSA, Vicente
Published in Human molecular genetics (15.06.2012)
Published in Human molecular genetics (15.06.2012)
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NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome
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
Published in PloS one (05.03.2020)
Published in PloS one (05.03.2020)
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Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population
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 in PloS one (05.02.2016)
Published in PloS one (05.02.2016)
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CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity
Weuring, Wout J, Dilevska, Ivana, Hoekman, Jos, van de Vondervoort, Joep, Koetsier, Martijn, van 't Slot, Ruben H, Braun, Kees P J, Koeleman, Bobby P C
Published in CRISPR journal (01.08.2021)
Published in CRISPR journal (01.08.2021)
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Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
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
Published in BMC biology (13.07.2023)
Published in BMC biology (13.07.2023)
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Genetic Susceptibility to Respiratory Syncytial Virus Bronchiolitis Is Predominantly Associated with Innate Immune Genes
Janssen, Riny, Bont, Louis, Siezen, Christine L. E., Hodemaekers, Hennie M., Ermers, Marieke J., Doornbos, Gerda, Slot, Ruben van 't, Wijmenga, Ciska, Goeman, Jelle J., Kimpen, Jan L. L., van Houwelingen, Hans C., Kimman, Tjeerd G., Hoebee, Barbara
Published in The Journal of infectious diseases (15.09.2007)
Published in The Journal of infectious diseases (15.09.2007)
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Genomic and transcriptomic plasticity in treatment-naive ovarian cancer
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
Published in Genome research (01.02.2014)
Published in Genome research (01.02.2014)
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Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing
de Lange, Iris M, Koudijs, Marco J, van ‘t Slot, Ruben, Sonsma, Anja C M, Mulder, Flip, Carbo, Ellen C, van Kempen, Marjan J A, Nijman, Isaac J, Ernst, Robert F, Savelberg, Sanne M C, Knoers, Nine V A M, Brilstra, Eva H, Koeleman, Bobby P C
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
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Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP
Zhernakova, Alexandra, Festen, Eleanora M., Franke, Lude, Trynka, Gosia, van Diemen, Cleo C., Monsuur, Alienke J., Bevova, Marianna, Nijmeijer, Rian M., van ‘t Slot, Ruben, Heijmans, Roel, Boezen, H. Marike, van Heel, David A., van Bodegraven, Adriaan A., Stokkers, Pieter C.F., Wijmenga, Cisca, Crusius, J. Bart A., Weersma, Rinse K.
Published in American journal of human genetics (01.05.2008)
Published in American journal of human genetics (01.05.2008)
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SPINK gene family and celiac disease susceptibility
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
Published in Immunogenetics (New York) (01.05.2007)
Published in Immunogenetics (New York) (01.05.2007)
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A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
van der Zwaag, Bert, Staal, Wouter G., Hochstenbach, Ron, Poot, Martin, Spierenburg, Henk A., de Jonge, Maretha V., Verbeek, Nienke E., van 't Slot, Ruben, van Es, Michael A., Staal, Frank J., Freitag, Christine M., Buizer-Voskamp, Jacobine E., Nelen, Marcel R., van den Berg, Leonard H., van Amstel, Hans K. Ploos, van Engeland, Herman, Burbach, J. Peter H.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2010)
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Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
ENGBERS, Hannelie, VAN DER SMAGT, Jasper J, VAN 'T SLOT, Ruben, VERMEESCH, Joris R, HOCHSTENBACH, Ron, POOT, Martin
Published in European journal of human genetics : EJHG (01.01.2009)
Published in European journal of human genetics : EJHG (01.01.2009)
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Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
Lange, Iris M., Weuring, Wout, ‘t Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., McCormack, Mark, Kovel, Carolien, Gemert, Lisette J. J. M., Mulder, Flip, Kempen, Marjan J. A., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism
DAALEN, Emma Van, KEMNER, Chantal, BEEMER, Frits A, VORSTMAN, Jacob A. S, BURBACH, J. Peter H, VAN AMSTEL, Hans Kristian Ploos, HOCHSTENBACH, Ron, BRILSTRA, Eva H, POOT, Martin, VERBEEK, Nienke E, DER ZWAAG, Bert Van, DIJKHUIZEN, Trijnie, RUMP, Patrick, HOUBEN, Renske, VAN 'T SLOT, Ruben, DE JONGE, Maretha V, STAAL, Wouter G
Published in Neurogenetics (01.11.2011)
Published in Neurogenetics (01.11.2011)
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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Hardies, Katia, de Kovel, Carolien G F, Weckhuysen, Sarah, Asselbergh, Bob, Geuens, Thomas, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P J, Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van 't Slot, Ruben, Nürnberg, Peter, Balling, Rudi, Timmerman, Vincent, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo, Suls, Arvid, Koeleman, Bobby P C, De Jonghe, Peter
Published in Brain (London, England : 1878) (01.11.2015)
Published in Brain (London, England : 1878) (01.11.2015)
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A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy
Kuiper, Jonas J W, Van Setten, Jessica, Ripke, Stephan, Van 'T Slot, Ruben, Mulder, Flip, Missotten, Tom, Baarsma, G Seerp, Francioli, Laurent C, Pulit, Sara L, De Kovel, Carolien G F, Ten Dam-Van Loon, Ninette, Den Hollander, Anneke I, Huis in het Veld, Paulien, Hoyng, Carel B, Cordero-Coma, Miguel, Martín, Javier, Llorenç, Victor, Arya, Bharti, Thomas, Dhanes, Bakker, Steven C, Ophoff, Roel A, Rothova, Aniki, De Bakker, Paul I W, Mutis, Tuna, Koeleman, Bobby P C
Published in Human molecular genetics (15.11.2014)
Published in Human molecular genetics (15.11.2014)
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Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes
de Lange, Iris M., Koudijs, Marco J., Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., van Gemert, Lisette J. J. M., Mulder, Flip, Carbo, Ellen C., van Kempen, Marjan J. A., Verbeek, Nienke E., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M. C., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Epilepsia (Copenhagen) (01.03.2018)
Published in Epilepsia (Copenhagen) (01.03.2018)
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Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
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
Published in Genome Biology (19.10.2011)
Published in Genome Biology (19.10.2011)
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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
van Es, Michael A, MD, Van Vught, Paul W, MSc, Blauw, Hylke M, MD, Franke, Lude, MSc, Saris, Christiaan G, MD, Andersen, Peter M, MD, Van Den Bosch, Ludo, PhD, de Jong, Sonja W, MD, van 't Slot, Ruben, BSc, Birve, Anna, PhD, Lemmens, Robin, MD, de Jong, Vianney, MD, Baas, Frank, PhD, Schelhaas, Helenius J, MD, Sleegers, Kristel, MD, Van Broeckhoven, Christine, PhD, Wokke, John HJ, MD, Wijmenga, Cisca, PhD, Robberecht, Wim, MD, Veldink, Jan H, MD, Ophoff, Roel A, PhD, van den Berg, Leonard H, MD
Published in Lancet neurology (01.10.2007)
Published in Lancet neurology (01.10.2007)
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