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
Detection of long repeat expansions from PCR-free whole-genome sequence data
Dolzhenko, Egor, van Vugt, Joke J F A, Shaw, Richard J, Bekritsky, Mitchell A, van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S, Rajan, Vani, Lajoie, Bryan R, Johnson, Nathan H, Kingsbury, Zoya, Humphray, Sean J, Schellevis, Raymond D, Brands, William J, Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H P, van Es, Michael A, McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J, Morrison, Karen, Shaw, Pamela J, Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S, Housman, David E, Ng, Christopher W, Li, Alina L, Taft, Ryan J, van den Berg, Leonard H, Bentley, David R, Veldink, Jan H, Eberle, Michael A
Published in Genome research (01.11.2017)
Published in Genome research (01.11.2017)
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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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Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study
Al-Chalabi, Ammar, Prof, Calvo, Andrea, MD, Chio, Adriano, Prof, Colville, Shuna, MPH, Ellis, Cathy M, PhD, Hardiman, Orla, Prof, Heverin, Mark, MSc, Howard, Robin S, PhD, Huisman, Mark H B, MD, Keren, Noa, MBBS, Leigh, P Nigel, Prof, Mazzini, Letizia, MD, Mora, Gabriele, MD, Orrell, Richard W, MD, Rooney, James, MSc, Scott, Kirsten M, MBBS, Scotton, William J, MBioch, Seelen, Meinie, MD, Shaw, Christopher E, Prof, Sidle, Katie S, PhD, Swingler, Robert, MD, Tsuda, Miho, MBChB, Veldink, Jan H, Prof, Visser, Anne E, MD, van den Berg, Leonard H, Prof, Pearce, Neil, Prof
Published in Lancet neurology (01.11.2014)
Published in Lancet neurology (01.11.2014)
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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Moll, Tobias, Marshall, Jack N.G., Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A., Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R., Eitan, Chen, Hornstein, Eran, Kenna, Kevin P., Blair, Ian, Wray, Naomi R., Kiernan, Matthew, Mitne Neto, Miguel, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Nazli A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Veldink, Jan H., Ferraiuolo, Laura, Shaw, Pamela J., Snyder, Michael P.
Published in Neuron (Cambridge, Mass.) (16.03.2022)
Published in Neuron (Cambridge, Mass.) (16.03.2022)
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The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies
van Coevorden-Hameete, Marleen H, de Bruijn, Marienke A A M, de Graaff, Esther, Bastiaansen, Danielle A E M, Schreurs, Marco W J, Demmers, Jeroen A A, Ramberger, Melanie, Hulsenboom, Esther S P, Nagtzaam, Mariska M P, Boukhrissi, Sanae, Veldink, Jan H, Verschuuren, Jan J G M, Hoogenraad, Casper C, Sillevis Smitt, Peter A E, Titulaer, Maarten J
Published in Brain (London, England : 1878) (01.06.2019)
Published in Brain (London, England : 1878) (01.06.2019)
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Blood lipids influence DNA methylation in circulating cells
Dekkers, Koen F, van Iterson, Maarten, Slieker, Roderick C, Moed, Matthijs H, Bonder, Marc Jan, van Galen, Michiel, Mei, Hailiang, Zhernakova, Daria V, van den Berg, Leonard H, Deelen, Joris, van Dongen, Jenny, van Heemst, Diana, Hofman, Albert, Hottenga, Jouke J, van der Kallen, Carla J H, Schalkwijk, Casper G, Stehouwer, Coen D A, Tigchelaar, Ettje F, Uitterlinden, André G, Willemsen, Gonneke, Zhernakova, Alexandra, Franke, Lude, 't Hoen, Peter A C, Jansen, Rick, van Meurs, Joyce, Boomsma, Dorret I, van Duijn, Cornelia M, van Greevenbroek, Marleen M J, Veldink, Jan H, Wijmenga, Cisca, van Zwet, Erik W, Slagboom, P Eline, Jukema, J Wouter, Heijmans, Bastiaan T
Published in Genome Biology (27.06.2016)
Published in Genome Biology (27.06.2016)
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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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Genomic signals of migration and continuity in Britain before the Anglo-Saxons
Martiniano, Rui, Caffell, Anwen, Holst, Malin, Hunter-Mann, Kurt, Montgomery, Janet, Müldner, Gundula, McLaughlin, Russell L., Teasdale, Matthew D., van Rheenen, Wouter, Veldink, Jan H., van den Berg, Leonard H., Hardiman, Orla, Carroll, Maureen, Roskams, Steve, Oxley, John, Morgan, Colleen, Thomas, Mark G., Barnes, Ian, McDonnell, Christine, Collins, Matthew J., Bradley, Daniel G.
Published in Nature communications (19.01.2016)
Published in Nature communications (19.01.2016)
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Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis
Lees, John A., Ferwerda, Bart, Kremer, Philip H. C., Wheeler, Nicole E., Serón, Mercedes Valls, Croucher, Nicholas J., Gladstone, Rebecca A., Bootsma, Hester J., Rots, Nynke Y., Wijmega-Monsuur, Alienke J., Sanders, Elisabeth A. M., Trzciński, Krzysztof, Wyllie, Anne L., Zwinderman, Aeilko H., van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Harboe, Zitta B., Lundbo, Lene F., de Groot, Lisette C. P. G. M., van Schoor, Natasja M., van der Velde, Nathalie, Ängquist, Lars H., Sørensen, Thorkild I. A., Nohr, Ellen A., Mentzer, Alexander J., Mills, Tara C., Knight, Julian C., du Plessis, Mignon, Nzenze, Susan, Weiser, Jeffrey N., Parkhill, Julian, Madhi, Shabir, Benfield, Thomas, von Gottberg, Anne, van der Ende, Arie, Brouwer, Matthijs C., Barrett, Jeffrey C., Bentley, Stephen D., van de Beek, Diederik
Published in Nature communications (15.05.2019)
Published in Nature communications (15.05.2019)
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EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
Van Hoecke, Annelies, Schoonaert, Lies, Lemmens, Robin, Timmers, Mieke, Staats, Kim A, Laird, Angela S, Peeters, Elke, Philips, Thomas, Goris, An, Dubois, Bénédicte, Andersen, Peter M, Al-Chalabi, Ammar, Thijs, Vincent, Turnley, Ann M, van Vught, Paul W, Veldink, Jan H, Hardiman, Orla, Van Den Bosch, Ludo, Gonzalez-Perez, Paloma, Van Damme, Philip, Brown, Robert H, van den Berg, Leonard H, Robberecht, Wim
Published in Nature medicine (01.09.2012)
Published in Nature medicine (01.09.2012)
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Functional genomics analysis identifies T and NK cell activation as a driver of epigenetic clock progression
Jonkman, Thomas H, Dekkers, Koen F, Slieker, Roderick C, Grant, Crystal D, Ikram, M Arfan, van Greevenbroek, Marleen M J, Franke, Lude, Veldink, Jan H, Boomsma, Dorret I, Slagboom, P Eline, Consortium, B I O S, Heijmans, Bastiaan T
Published in Genome Biology (14.01.2022)
Published in Genome Biology (14.01.2022)
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Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Nabais, Marta F, Laws, Simon M, Lin, Tian, Vallerga, Costanza L, Armstrong, Nicola J, Blair, Ian P, Kwok, John B, Mather, Karen A, Mellick, George D, Sachdev, Perminder S, Wallace, Leanne, Henders, Anjali K, Zwamborn, Ramona A J, Hop, Paul J, Lunnon, Katie, Pishva, Ehsan, Roubroeks, Janou A Y, Soininen, Hilkka, Tsolaki, Magda, Mecocci, Patrizia, Lovestone, Simon, Kłoszewska, Iwona, Vellas, Bruno, Furlong, Sarah, Garton, Fleur C, Henderson, Robert D, Mathers, Susan, McCombe, Pamela A, Needham, Merrilee, Ngo, Shyuan T, Nicholson, Garth, Pamphlett, Roger, Rowe, Dominic B, Steyn, Frederik J, Williams, Kelly L, Anderson, Tim J, Bentley, Steven R, Dalrymple-Alford, John, Fowder, Javed, Gratten, Jacob, Halliday, Glenda, Hickie, Ian B, Kennedy, Martin, Lewis, Simon J G, Montgomery, Grant W, Pearson, John, Pitcher, Toni L, Silburn, Peter, Zhang, Futao, Visscher, Peter M, Yang, Jian, Stevenson, Anna J, Hillary, Robert F, Marioni, Riccardo E, Harris, Sarah E, Deary, Ian J, Jones, Ashley R, Shatunov, Aleksey, Iacoangeli, Alfredo, van Rheenen, Wouter, van den Berg, Leonard H, Shaw, Pamela J, Shaw, Cristopher E, Morrison, Karen E, Al-Chalabi, Ammar, Veldink, Jan H, Hannon, Eilis, Mill, Jonathan, Wray, Naomi R, McRae, Allan F
Published in Genome Biology (26.03.2021)
Published in Genome Biology (26.03.2021)
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Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study
Verstraete, Esther, van den Heuvel, Martijn P, Veldink, Jan H, Blanken, Niels, Mandl, René C, Hulshoff Pol, Hilleke E, van den Berg, Leonard H
Published in PloS one (27.10.2010)
Published in PloS one (27.10.2010)
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Dutch population structure across space, time and GWAS design
Byrne, Ross P., van Rheenen, Wouter, van den Berg, Leonard H., Veldink, Jan H., McLaughlin, Russell L.
Published in Nature communications (11.09.2020)
Published in Nature communications (11.09.2020)
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Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study
van Rheenen, Wouter, Diekstra, Frank P, Harschnitz, Oliver, Westeneng, Henk-Jan, van Eijk, Kristel R, Saris, Christiaan G J, Groen, Ewout J N, van Es, Michael A, Blauw, Hylke M, van Vught, Paul W J, Veldink, Jan H, van den Berg, Leonard H
Published in PloS one (25.06.2018)
Published in PloS one (25.06.2018)
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Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis
Verstraete, Esther, Veldink, Jan H, Hendrikse, Jeroen, Schelhaas, H Jurgen, van den Heuvel, Martijn P, van den Berg, Leonard H
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2012)
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2012)
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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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