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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Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking
Pirastu, Nicola, Kooyman, Maarten, Traglia, Michela, Robino, Antonietta, Willems, Sara M, Pistis, Giorgio, d'Adamo, Pio, Amin, Najaf, d'Eustacchio, Angela, Navarini, Luciano, Sala, Cinzia, Karssen, Lennart C, van Duijn, Cornelia, Toniolo, Daniela, Gasparini, Paolo
Published in PloS one (19.03.2014)
Published in PloS one (19.03.2014)
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Targeted genetic screen in Amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype
Cooper-Knock, Johnathan, Robins, Henry, Niedermoser, Isabell, Wyles, Matthew, Heath, Paul R., Higginbottom, Adrian, Walsh, Theresa, Kazoka, Mbombe, Ince, Paul G., Hautbergue, Guillaume M., McDermott, Christopher J., Kirby, Janine, Shaw, Pamela J., Project MinE ALS Sequencing Consortium, de Carvalho, Mamede, Pinto, Susana
Published in Frontiers in molecular neuroscience (09.11.2017)
Published in Frontiers in molecular neuroscience (09.11.2017)
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Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
Hop, Paul J., Lai, Dongbing, Keagle, Pamela J., Baron, Desiree M., Kenna, Brendan J., Kooyman, Maarten, Shankaracharya, Halter, Cheryl, Straniero, Letizia, Asselta, Rosanna, Bonvegna, Salvatore, Soto-Beasley, Alexandra I., Wszolek, Zbigniew K., Uitti, Ryan J., Isaias, Ioannis Ugo, Pezzoli, Gianni, Ticozzi, Nicola, Ross, Owen A., Veldink, Jan H., Foroud, Tatiana M., Kenna, Kevin P., Landers, John E.
Published in Nature genetics (01.07.2024)
Published in Nature genetics (01.07.2024)
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PO-629-03 IN-DEPTH ANALYSIS OF THE SCN5A LOCUS HIGHLIGHTS DISTINCT GENETIC ARCHITECTURES FOR BRUGADA SYNDROME IN DIFFERENT ANCESTRIES AND IDENTIFIES A NOVEL RARE ENHANCER VARIANT ASSOCIATED WITH DISEASE IN SOUTHEAST ASIAN PATIENTS
Walsh, Roddy, Khongphatthanayothin, Apichai, Mauleekoonphairoj, John, Beekman, Leander, Kooyman, Maarten, Wu, Cheng-I, Barc, Julien, Tadros, Rafik, Amin, Ahmad S., Postema, Pieter Gerard, Wijeyeratne, Yanushi Dullewe, Lambiase, Pier D., Behr, Elijah, Wilde, Arthur A.M., Poovorawan, Yong, Bezzina, Connie R., Nademanee, Koonlawee
Published in Heart rhythm (01.05.2022)
Published in Heart rhythm (01.05.2022)
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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
Zanovello, Matteo, Ibáñez, Kristina, Brown, Anna-Leigh, Sivakumar, Prasanth, Bombaci, Alessandro, Santos, Liana, van Vugt, Joke J F A, Narzisi, Giuseppe, Karra, Ramita, Scholz, Sonja W, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, James, Houlden, Henry, Fratta, Pietro, Tucci, Arianna
Published in Brain (London, England : 1878) (03.07.2023)
Published in Brain (London, England : 1878) (03.07.2023)
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A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand
Walsh, Roddy, Mauleekoonphairoj, John, Mengarelli, Isabella, Bosada, Fernanda M, Verkerk, Arie O, van Duijvenboden, Karel, Poovorawan, Yong, Wongcharoen, Wanwarang, Sutjaporn, Boosamas, Wandee, Pharawee, Chimparlee, Nitinan, Chokesuwattanaskul, Ronpichai, Vongpaisarnsin, Kornkiat, Dangkao, Piyawan, Wu, Cheng-I, Tadros, Rafik, Amin, Ahmad S, Lieve, Krystien V V, Postema, Pieter G, Kooyman, Maarten, Beekman, Leander, Sahasatas, Dujdao, Amnueypol, Montawatt, Krittayaphong, Rungroj, Prechawat, Somchai, Anannab, Alisara, Makarawate, Pattarapong, Ngarmukos, Tachapong, Phusanti, Keerapa, Veerakul, Gumpanart, Kingsbury, Zoya, Newington, Taksina, Maheswari, Uma, Ross, Mark T, Grace, Andrew, Lambiase, Pier D, Behr, Elijah R, Schott, Jean-Jacques, Redon, Richard, Barc, Julien, Christoffels, Vincent M, Wilde, Arthur A M, Nademanee, Koonlawee, Bezzina, Connie R, Khongphatthanayothin, Apichai
Published in Circulation (New York, N.Y.) (11.10.2024)
Published in Circulation (New York, N.Y.) (11.10.2024)
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Computing linkage disequilibrium aware genome embeddings using autoencoders
Taş, Gizem, Westerdijk, Timo, Postma, Eric, Veldink, Jan H, Schönhuth, Alexander, Balvert, Marleen
Published in Bioinformatics (Oxford, England) (03.06.2024)
Published in Bioinformatics (Oxford, England) (03.06.2024)
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Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption
Pirastu, Nicola, Kooyman, Maarten, Robino, Antonietta, van der Spek, Ashley, Navarini, Luciano, Amin, Najaf, Karssen, Lennart C., Van Duijn, Cornelia M, Gasparini, Paolo
Published in Scientific reports (25.08.2016)
Published in Scientific reports (25.08.2016)
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Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Tazelaar, Gijs H.P., Dekker, Annelot M., van Vugt, Joke J.F.A., van der Spek, Rick A., Westeneng, Henk-Jan, Kool, Lindy J.B.G., Kenna, Kevin P., van Rheenen, Wouter, Pulit, Sara L., McLaughlin, Russell L., Sproviero, William, Iacoangeli, Alfredo, Hübers, Annemarie, Brenner, David, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Panadés, Monica Povedano, Mora Pardina, Jesus S., Glass, Jonathan D., Hardiman, Orla, Al-Chalabi, Ammar, van Damme, Philip, Robberecht, Wim, Landers, John E., Ludolph, Albert C., Weishaupt, Jochen H., van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.
Published in Neurobiology of aging (01.02.2019)
Published in Neurobiology of aging (01.02.2019)
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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
Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking
Pirastu, Nicola, Kooyman, Maarten, Traglia, Michela, Robino, Antonietta, Willems, Sara M, Pistis, Giorgio, Amin, Najaf, Sala, Cinzia, Karssen, Lennart C, van Duijn, Cornelia M, Toniolo, Daniela, Gasparini, Paolo
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Journal Article
A Genome-Wide Association Study in isolated populations reveals new genes associated to common food likings
Pirastu, Nicola, Kooyman, Maarten, Traglia, Michela, Robino, Antonietta, Willems, Sara M., Pistis, Giorgio, Amin, Najaf, Sala, Cinzia, Karssen, Lennart C., Van Duijn, Cornelia, Toniolo, Daniela, Gasparini, Paolo
Published in Reviews in Endocrine & Metabolic Disorders (01.06.2016)
Published in Reviews in Endocrine & Metabolic Disorders (01.06.2016)
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Book Review
MetiTree: a web application to organize and process high-resolution multi-stage mass spectrometry metabolomics data
ROJAS-CHERTO, Miguel, VLIET, Michael Van, PEIRONCELY, Julio E, DOORN, Ronnie Van, KOOYMAN, Maarten, TE BEEK, Tim, DRIEL, Marc A. Van, HANKEMEIER, Thomas, REIJMERS, Theo
Published in Bioinformatics (Oxford, England) (15.10.2012)
Published in Bioinformatics (Oxford, England) (15.10.2012)
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JAG: A Computational Tool to Evaluate the Role of Gene-Sets in Complex Traits
Lips, Esther S, Kooyman, Maarten, de Leeuw, Christiaan, Posthuma, Danielle
Published in Genes (14.05.2015)
Published in Genes (14.05.2015)
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The PinkThing for analysing ChIP profiling data in their genomic context
Nielsen, Fiona G, Kooyman, Maarten, Kensche, Philip, Marks, Hendrik, Stunnenberg, Henk, Huynen, Martijn
Published in BMC research notes (04.04.2013)
Published in BMC research notes (04.04.2013)
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Journal Article
Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between TAS2R43 Variants and Coffee Liking: e92065
Pirastu, Nicola, Kooyman, Maarten, Traglia, Michela, Robino, Antonietta, Willems, Sara M, Pistis, Giorgio, d'Adamo, Pio, Amin, Najaf, d'Eustacchio, Angela, Navarini, Luciano
Published in PloS one (01.03.2014)
Published in PloS one (01.03.2014)
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