Using the structure of genome data in the design of deep neural networks for predicting amyotrophic lateral sclerosis from genotype
Yin, Bojian, Balvert, Marleen, van der Spek, Rick A A, Dutilh, Bas E, Bohté, Sander, Veldink, Jan, Schönhuth, Alexander
Published in Bioinformatics (15.07.2019)
Published in Bioinformatics (15.07.2019)
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Journal Article
Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study
Westeneng, Henk-Jan, van Veenhuijzen, Kevin, van der Spek, Rick A, Peters, Susan, Visser, Anne E, van Rheenen, Wouter, Veldink, Jan H, van den Berg, Leonard H
Published in Lancet neurology (01.05.2021)
Published in Lancet neurology (01.05.2021)
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Journal Article
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
van der Spek, Rick A.A., van Rheenen, Wouter, Pulit, Sara L., Kenna, Kevin P., van den Berg, Leonard H., Veldink, Jan H.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2019)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2019)
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Journal Article
Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?
van Eijk, Ruben P. A., Eijkemans, Marinus J. C., Nikolakopoulos, Stavros, Jansen, Marc D., Westeneng, Henk-Jan, van Eijk, Kristel R., van der Spek, Rick A. A., van Vugt, Joke J. F. A., Piepers, Sanne, Groeneveld, Geert-Jan, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A.
Published in The pharmacogenomics journal (01.04.2020)
Published in The pharmacogenomics journal (01.04.2020)
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Journal Article
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
Eitan, Chen, Siany, Aviad, Barkan, Elad, Olender, Tsviya, van Eijk, Kristel R., Moisse, Matthieu, Farhan, Sali M. K., Danino, Yehuda M., Yanowski, Eran, Marmor-Kollet, Hagai, Rivkin, Natalia, Yacovzada, Nancy Sarah, Hung, Shu-Ting, Cooper-Knock, Johnathan, Yu, Chien-Hsiung, Louis, Cynthia, Masters, Seth L., Kenna, Kevin P., van der Spek, Rick A. A., Sproviero, William, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Jones, Ashley R., Elbaz-Alon, Yael, Cohen, Yahel, Chapnik, Elik, Rothschild, Daphna, Weissbrod, Omer, Beck, Gilad, Ainbinder, Elena, Ben-Dor, Shifra, Werneburg, Sebastian, Schafer, Dorothy P., Brown, Robert H., Shaw, Pamela J., Van Damme, Philip, van den Berg, Leonard H., Phatnani, Hemali, Segal, Eran, Ichida, Justin K., Al-Chalabi, Ammar, Veldink, Jan H., Hornstein, Eran
Published in Nature neuroscience (01.04.2022)
Published in Nature neuroscience (01.04.2022)
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Journal Article
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
Wouter Van Rheenen, Pulit, Sara L, Dekker, Annelot M, Ahmad Al Khleifat, Brands, William J, Iacoangeli, Alfredo, Kenna, Kevin P, Kavak, Ersen, Kooyman, Maarten, McLaughlin, Russell L, Middelkoop, Bas, Moisse, Matthieu, Schellevis, Raymond D, Shatunov, Aleksey, Sproviero, William, Tazelaar, Gijs H P, Rick A A Van der Spek, Perry T C Van Doormaal, Van Eijk, Kristel R, Joke Van Vugt, Basak, A Nazli, Blair, Ian P, Glass, Jonathan D, Hardiman, Orla, Hide, Winston, Landers, John E, Mora, Jesus S, Morrison, Karen E, Newhouse, Stephen, Robberecht, Wim, Shaw, Christopher E, Shaw, Pamela J, Philip Van Damme, Van Es, Michael A, Wray, Naomi R, Al-Chalabi, Ammar, Leonard H Van den Berg, Veldink, Jan H
Published in European journal of human genetics : EJHG (01.10.2018)
Published in European journal of human genetics : EJHG (01.10.2018)
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Journal Article
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
McLaughlin, Russell L., Schijven, Dick, van Rheenen, Wouter, van Eijk, Kristel R., O’Brien, Margaret, Kahn, René S., Ophoff, Roel A., Goris, An, Bradley, Daniel G., Al-Chalabi, Ammar, van den Berg, Leonard H., Luykx, Jurjen J., Hardiman, Orla, Veldink, Jan H.
Published in Nature communications (21.03.2017)
Published in Nature communications (21.03.2017)
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Journal Article
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
Addis, Laura, Sproviero, William, Thomas, Sanjeev V, Caraballo, Roberto H, Newhouse, Stephen J, Gomez, Kumudini, Hughes, Elaine, Kinali, Maria, McCormick, David, Hannan, Siobhan, Cossu, Silvia, Taylor, Jacqueline, Akman, Cigdem I, Wolf, Steven M, Mandelbaum, David E, Gupta, Rajesh, van der Spek, Rick A, Pruna, Dario, Pal, Deb K
Published in Journal of medical genetics (01.09.2018)
Published in Journal of medical genetics (01.09.2018)
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Journal Article
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., Tazelaar, Gijs H. P., van der Spek, Rick A., van Rheenen, Wouter, van Eijk, Kristel R., Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C., Weishaupt, Jochen H., Pardina, Jesus S. Mora, van den Berg, Leonard H., Veldink, Jan H.
Published in Scientific reports (11.04.2019)
Published in Scientific reports (11.04.2019)
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Journal Article
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Moisse, Matthieu, Zwamborn, Ramona A. J., Vugt, Joke, Spek, Rick, Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Carvalho, Mamede, Mora Pardina, Jesús S., Povedano, Monica, Andersen, Peter M., Weber, Markus, Başak, Nazli A., Chen, Xiao, Eberle, Michael A., Al‐Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Robberecht, Wim, Es, Michael, Berg, Leonard, Veldink, Jan, Van Damme, Philip
Published in Annals of neurology (01.04.2021)
Published in Annals of neurology (01.04.2021)
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Journal Article
Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Bakker, Mark K., van der Spek, Rick A. A., van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C., Alg, Varinder S., van Eijk, Kristel R., Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G., Lin, Kuang, Li, Liming, Millwood, Iona Y., Chen, Zhengming, Rouleau, Guy A., Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie L. M., Houlden, Henry, van den Berg, Leonard H., Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S., Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M., Sandvei, Marie Søfteland, Willer, Cristen J., Hveem, Kristian, Zwart, John-Anker, Verschuren, W. M. Monique, Friedrich, Christoph M., Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Jones, Gregory T., Bown, Matthew J., Ko, Nerissa U., Kim, Helen, Coleman, Jonathan R. I., Breen, Gerome, Zaroff, Jonathan G., Klijn, Catharina J. M., Malik, Rainer, Dichgans, Martin, Sargurupremraj, Muralidharan, Tatlisumak, Turgut, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel J. E., Worrall, Bradford B., Pera, Joanna, Slowik, Agnieszka, Gaál-Paavola, Emília I., Niemelä, Mika, Jääskeläinen, Juha E., von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P., Werring, David J., Woo, Daniel, Redon, Richard, Bijlenga, Philippe, Kamatani, Yoichiro, Veldink, Jan H., Ruigrok, Ynte M.
Published in Nature genetics (01.02.2021)
Published in Nature genetics (01.02.2021)
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Journal Article
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J. F. A., Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A. J., van der Spek, Rick A. A., Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R., Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R., Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E., Dobson, Richard, van Es, Michael A., McLaughlin, Russell L., Vourc’h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P., Mora, Jesus S., Shaw, Pamela J., Landers, John E., Glass, Jonathan D., Shaw, Christopher E., Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., Al-Chalabi, Ammar
Published in Npj genomic medicine (28.01.2022)
Published in Npj genomic medicine (28.01.2022)
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Journal Article
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
Tazelaar, Gijs H P, Boeynaems, Steven, De Decker, Mathias, van Vugt, Joke J F A, Kool, Lindy, Goedee, H Stephan, McLaughlin, Russell L, Sproviero, William, Iacoangeli, Alfredo, Moisse, Matthieu, Jacquemyn, Maarten, Daelemans, Dirk, Dekker, Annelot M, van der Spek, Rick A, Westeneng, Henk-Jan, Kenna, Kevin P, Assialioui, Abdelilah, Da Silva, Nica, Povedano, Mónica, Pardina, Jesus S Mora, Hardiman, Orla, Salachas, François, Millecamps, Stéphanie, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Pasterkamp, R Jeroen, Landers, John E, Van Den Bosch, Ludo, Robberecht, Wim, Al-Chalabi, Ammar, van den Berg, Leonard H, Van Damme, Philip, Veldink, Jan H, van Es, Michael A
Published in Brain communications (01.01.2020)
Published in Brain communications (01.01.2020)
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Journal Article
Reconsidering the causality of TIA1 mutations in ALS
van der Spek, Rick A., van Rheenen, Wouter, Pulit, Sara L., Kenna, Kevin P., Ticozzi, Nicola, Kooyman, Maarten, Mclaughlin, Russell L., Moisse, Matthieu, van Eijk, Kristel R., van Vugt, Joke J. F. A., Iacoangeli, Alfredo, Andersen, Peter, Nazli Basak, A., Blair, Ian, de Carvalho, Mamede, Chio, Adriano, Corcia, Philippe, Couratier, Phillipe, Drory, Vivian E., Glass, Jonathan D., Hardiman, Orla, Mora, Jesús S., Morrison, Karen E., Mitne-Neto, Miguel, Robberecht, Wim, Shaw, Pamela J., Panadés, Monica P., van Damme, Philip, Silani, Vincenzo, Gotkine, Marc, Weber, Markus, van Es, Michael A., Landers, John E., Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan H.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2018)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2018)
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Journal Article
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Bakker, Mark K., van der Spek, Rick A. A., van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C., Alg, Varinder S., van Eijk, Kristel R., Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G., Lin, Kuang, Li, Liming, Millwood, Iona Y., Chen, Zhengming, Rouleau, Guy A., Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie L. M., Houlden, Henry, van den Berg, Leonard H., Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S., Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M., Sandvei, Marie Søfteland, Willer, Cristen J., Hveem, Kristian, Zwart, John-Anker, Verschuren, W. M. Monique, Friedrich, Christoph M., Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Jones, Gregory T., Bown, Matthew J., Ko, Nerissa U., Kim, Helen, Coleman, Jonathan R. I., Breen, Gerome, Zaroff, Jonathan G., Klijn, Catharina J. M., Malik, Rainer, Dichgans, Martin, Sargurupremraj, Muralidharan, Tatlisumak, Turgut, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel J. E., Worrall, Bradford B., Pera, Joanna, Slowik, Agnieszka, Gaál-Paavola, Emília I., Niemelä, Mika, Jääskeläinen, Juha E., von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P., Werring, David J., Woo, Daniel, Redon, Richard, Bijlenga, Philippe, Kamatani, Yoichiro, Veldink, Jan H., Ruigrok, Ynte M.
Published in Nature genetics (01.12.2020)
Published in Nature genetics (01.12.2020)
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Journal Article
Genetic variability in sporadic amyotrophic lateral sclerosis
Van Daele, Sien Hilde, Moisse, Matthieu, van Vugt, Joke J F A, Zwamborn, Ramona A J, van der Spek, Rick, van Rheenen, Wouter, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Vourc'h, Patrick, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Ratti, Antonia, de Carvalho, Mamede, Mora Pardina, Jesús S, Povedano, Monica, Andersen, Peter M, Weber, Markus, Başak, Nazli A, Shaw, Chris, Shaw, Pamela J, Morrison, Karen E, Landers, John E, Glass, Jonathan D, van Es, Michael A, van den Berg, Leonard H, Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip
Published in Brain (London, England : 1878) (01.09.2023)
Published in Brain (London, England : 1878) (01.09.2023)
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Journal Article
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Tazelaar, Gijs H.P., van Rheenen, Wouter, Pulit, Sara L., van der Spek, Rick A.A., Dekker, Annelot M., Moisse, Matthieu, McLaughlin, Russell L., Sproviero, William, Kenna, Kevin P., Kooyman, Maarten, van Doormaal, Perry T.C., van Eijk, Kristel E., Middelkoop, Bas M., Schellevis, Raymond D., Brands, William J., Al‐Chalabi, Ammar, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Newhouse, Stephen E., van Es, Michael A., Basak, A. Nazli, Akçimen, Fulya, Kocoglu, Cemile, Tunca, Ceren, Povedano, Monica, Mora, Jesus S., Glass, Jonathan D., Van Damme, Philip, Robberecht, Wim, HardimanMD, Orla, Landers, John E., van den Berg, Leonard H., Veldink, Jan H.
Published in Annals of neurology (01.07.2018)
Published in Annals of neurology (01.07.2018)
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Journal Article
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)
van, Rheenen W, van, der Spek RAA, Bakker, MK, van, Vugt JJFA, Hop, PJ, Zwamborn, RAJ, de, Klein N, Westra, H-J, Bakker, OB, Deelen, P
Published in NATURE GENETICS (01.03.2022)
Published in NATURE GENETICS (01.03.2022)
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Publication
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
Al Khleifat, Ahmad, Iacoangeli, Alfredo, Jones, Ashley R, van Vugt, Joke J F A, Moisse, Matthieu, Shatunov, Aleksey, Zwamborn, Ramona A J, van der Spek, Rick A A, Cooper-Knock, Johnathan, Topp, Simon, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R, Kenna, Kevin, Byrne, Ross, López, Victoria, Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E, Dobson, Richard, van Es, Michael A, McLaughlin, Russell L, Vourc'h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica Povedano, Mora, Jesus S, Shaw, Pamela J, Landers, John E, Glass, Jonathan D, Shaw, Christopher E, Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, Al-Chalabi, Ammar
Published in Frontiers in cellular neuroscience (15.12.2022)
Published in Frontiers in cellular neuroscience (15.12.2022)
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Journal Article
Unconsented genetic testing in psychiatry: an (almost) no go?
Luykx, Jurjen J, van der Spek, Rick, van Veen, Sisco, Lo-A-Foe, Wonnie, Giesbertz, Noor A A, Bredenoord, Annelien L, Palmboom, Ger G
Published in The Lancet. Psychiatry (01.08.2019)
Published in The Lancet. Psychiatry (01.08.2019)
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