ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Dolzhenko, Egor, Bennett, Mark F, Richmond, Phillip A, Trost, Brett, Chen, Sai, van Vugt, Joke J F A, Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G, Gross, Andrew M, Lajoie, Bryan R, Taft, Ryan J, Wasserman, Wyeth W, Scherer, Stephen W, Veldink, Jan H, Bentley, David R, Yuen, Ryan K C, Bahlo, Melanie, Eberle, Michael A
Published in Genome Biology (28.04.2020)
Published in Genome Biology (28.04.2020)
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Journal Article
Genetic analysis of ALS cases in the isolated island population of Malta
Borg, Rebecca, Farrugia Wismayer, Maia, Bonavia, Karl, Farrugia Wismayer, Andrew, Vella, Malcolm, van Vugt, Joke J F A, Kenna, Brendan J, Kenna, Kevin P, Vassallo, Neville, Veldink, Jan H, Cauchi, Ruben J
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Journal Article
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Published in Bioinformatics (01.11.2019)
Published in Bioinformatics (01.11.2019)
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Journal Article
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F, Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C, Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A, Saunders, Christopher T, Scheffler, Konrad, van Vugt, Joke J F A, Zwamborn, Ramona R A J, Chong, Samuel S, Friedman, Jan M, Tucci, Arianna, Rehm, Heidi L, Eberle, Michael A
Published in Genome medicine (11.08.2022)
Published in Genome medicine (11.08.2022)
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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
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Westeneng, Henk-Jan, Debray, Thomas P A, Visser, Anne E, van Eijk, Ruben P A, Rooney, James P K, Calvo, Andrea, Martin, Sarah, McDermott, Christopher J, Thompson, Alexander G, Pinto, Susana, Kobeleva, Xenia, Rosenbohm, Angela, Stubendorff, Beatrice, Sommer, Helma, Middelkoop, Bas M, Dekker, Annelot M, van Vugt, Joke J F A, van Rheenen, Wouter, Vajda, Alice, Heverin, Mark, Kazoka, Mbombe, Hollinger, Hannah, Gromicho, Marta, Körner, Sonja, Ringer, Thomas M, Rödiger, Annekathrin, Gunkel, Anne, Shaw, Christopher E, Bredenoord, Annelien L, van Es, Michael A, Corcia, Philippe, Couratier, Philippe, Weber, Markus, Grosskreutz, Julian, Ludolph, Albert C, Petri, Susanne, de Carvalho, Mamede, Van Damme, Philip, Talbot, Kevin, Turner, Martin R, Shaw, Pamela J, Al-Chalabi, Ammar, Chiò, Adriano, Hardiman, Orla, Moons, Karel G M, Veldink, Jan H, van den Berg, Leonard H
Published in Lancet neurology (01.05.2018)
Published in Lancet neurology (01.05.2018)
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Journal Article
Differentially expressed genes linked to natural variation in long-term memory formation in Cotesia parasitic wasps
van Vugt, Joke J F A, Hoedjes, Katja M, van de Geest, Henri C, Schijlen, Elio W G M, Vet, Louise E M, Smid, Hans M
Published in Frontiers in behavioral neuroscience (25.09.2015)
Published in Frontiers in behavioral neuroscience (25.09.2015)
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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
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
Mehta, Puja R, Iacoangeli, Alfredo, Opie-Martin, Sarah, van Vugt, Joke J F A, Al Khleifat, Ahmad, Bredin, Andrea, Ossher, Lynn, Andersen, Peter M, Hardiman, Orla, Mehta, Arpan R, Fratta, Pietro, Talbot, Kevin, Al-Chalabi, Ammar
Published in Brain (London, England : 1878) (19.12.2022)
Published in Brain (London, England : 1878) (19.12.2022)
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Journal Article
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
Jadhav, Bharati, Garg, Paras, van Vugt, Joke J. F. A., Ibanez, Kristina, Gagliardi, Delia, Lee, William, Shadrina, Mariya, Mokveld, Tom, Dolzhenko, Egor, Martin-Trujillo, Alejandro, Gies, Scott J., Altman, Gabrielle, Rocca, Clarissa, Barbosa, Mafalda, Jain, Miten, Lahiri, Nayana, Lachlan, Katherine, Houlden, Henry, Paten, Benedict, Veldink, Jan, Tucci, Arianna, Sharp, Andrew J.
Published in Nature genetics (23.09.2024)
Published in Nature genetics (23.09.2024)
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Journal Article
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
van Kuilenburg, André B.P, Tarailo-Graovac, Maja, Richmond, Phillip A, Drögemöller, Britt I, Pouladi, Mahmoud A, Leen, René, Brand-Arzamendi, Koroboshka, Dobritzsch, Doreen, Dolzhenko, Egor, Eberle, Michael A, Hayward, Bruce, Jones, Meaghan J, Karbassi, Farhad, Kobor, Michael S, Koster, Janet, Kumari, Daman, Li, Meng, MacIsaac, Julia, McDonald, Cassandra, Meijer, Judith, Nguyen, Charlotte, Rajan-Babu, Indhu-Shree, Scherer, Stephen W, Sim, Bernice, Trost, Brett, Tseng, Laura A, Turkenburg, Marjolein, van Vugt, Joke J.F.A, Veldink, Jan H, Walia, Jagdeep S, Wang, Youdong, van Weeghel, Michel, Wright, Galen E.B, Xu, Xiaohong, Yuen, Ryan K.C, Zhang, Jinqiu, Ross, Colin J, Wasserman, Wyeth W, Geraghty, Michael T, Santra, Saikat, Wanders, Ronald J.A, Wen, Xiao-Yan, Waterham, Hans R, Usdin, Karen, van Karnebeek, Clara D.M
Published in The New England journal of medicine (11.04.2019)
Published in The New England journal of medicine (11.04.2019)
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Journal Article
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M, van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.
Published in Neurobiology of aging (01.02.2023)
Published in Neurobiology of aging (01.02.2023)
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Journal Article
High frequency RNA recombination in porcine reproductive and respiratory syndrome virus occurs preferentially between parental sequences with high similarity
Vugt, J.J.F.A. van, Storgaard, T, Oleksiewicz, M.B, Botner, A
Published in Journal of general virology (01.11.2001)
Published in Journal of general virology (01.11.2001)
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Journal Article
Chromosomal scale assembly of parasitic wasp genome reveals symbiotic virus colonization
Gauthier, Jérémy, Boulain, Hélène, van Vugt, Joke J. F. A., Baudry, Lyam, Persyn, Emma, Aury, Jean-Marc, Noel, Benjamin, Bretaudeau, Anthony, Legeai, Fabrice, Warris, Sven, Chebbi, Mohamed A., Dubreuil, Géraldine, Duvic, Bernard, Kremer, Natacha, Gayral, Philippe, Musset, Karine, Josse, Thibaut, Bigot, Diane, Bressac, Christophe, Moreau, Sébastien, Periquet, Georges, Harry, Myriam, Montagné, Nicolas, Boulogne, Isabelle, Sabeti-Azad, Mahnaz, Maïbèche, Martine, Chertemps, Thomas, Hilliou, Frédérique, Siaussat, David, Amselem, Joëlle, Luyten, Isabelle, Capdevielle-Dulac, Claire, Labadie, Karine, Merlin, Bruna Laís, Barbe, Valérie, de Boer, Jetske G., Marbouty, Martial, Cônsoli, Fernando Luis, Dupas, Stéphane, Hua-Van, Aurélie, Le Goff, Gaelle, Bézier, Annie, Jacquin-Joly, Emmanuelle, Whitfield, James B., Vet, Louise E. M., Smid, Hans M., Kaiser, Laure, Koszul, Romain, Huguet, Elisabeth, Herniou, Elisabeth A., Drezen, Jean-Michel
Published in Communications biology (22.01.2021)
Published in Communications biology (22.01.2021)
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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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