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Johan T. den Dunnen

leiden university - excl lumc

94H-index
461Paper Count
3.5WCitation Count
Published Papers 151
Publication Date
Standardizing variant naming in literature with VariantValidator to increase diagnostic rates (Oct, 10.1038/s41588-024-01938-w, 2024)
err2024-10-29
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PREAI
errFreeman, Peter J.; Wagstaff, John F.; Fokkema, Ivo F. A. C.; Cutting, Garry R.; Rehm, Heidi L.; Davies, Angela C.; den Dunnen, Johan T.; Gretton, Liam J.; Dalgleish, Raymond
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Comparison of the ABC and ACMG systems for variant classification
err2024-05-22
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errHouge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Zukauskaite, Gabriele; Sansovic, Ivona; Brea-Fernandez, Alejandro J.; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L.; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M.; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjorn Ivar; Lorans, Marie; Roomere, Hanno; Petit, Francois M.; Haanpaa, Maria K.; Beneteau, Claire; Perez, Belen; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I.; Stephanou, Coralea; Sjursen, Wenche; Maver, Ales; Rouzier, Cecile; Chirita-Emandi, Adela; Goncalves, Joao; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T.; Laner, Andreas
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Human Mutation special issue on Variant Effect Prediction
err2022-07-15
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PREAI
errLaner, Andreas; Maver, Ales; den Dunnen, Johan T.
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NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome
err2021-12-09
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errBilliet, Benjamin; Amati-Bonneau, Patrizia; Desquiret-Dumas, Valerie; Guehlouz, Khadidja; Milea, Dan; Gohier, Philippe; Lenaers, Guy; Mirebeau-Prunier, Delphine; den Dunnen, Johan T.; Reynier, Pascal; Ferre, Marc
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New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
err2021-11-08
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errTavares, Vanessa Luiza Romanelli; Guimaraes-Ramos, Sofia Ligia; Zhou, Yan; Masotti, Cibele; Ezquina, Suzana; Moreira, Danielle de Paula; Buermans, Henk; Freitas, Renato S.; Den Dunnen, Johan T.; Twigg, Stephen R. F.; Passos-Bueno, Maria Rita
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The LOVD3 platform: efficient genome-wide sharing of genetic variants
err2021-09-15
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errFokkema, Ivo F. A. C.; Kroon, Mark; Hernandez, Julia A. Lopez; Asscheman, Daan; Lugtenburg, Ivar; Hoogenboom, Jerry; den Dunnen, Johan T.
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Stepwise ABC system for classification of any type of genetic variant
err2021-05-13
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errHouge, Gunnar; Laner, Andreas; Cirak, Sebahattin; de Leeuw, Nicole; Scheffer, Hans; den Dunnen, Johan T.
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Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy
err2021-02-04
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errBeckers, Pablo; Caberg, Jean-Hubert; Dideberg, Vinciane; Dangouloff, Tamara; den Dunnen, Johan T.; Bours, Vincent; Servais, Laurent; Boemer, Francois
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Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals
err2020-12-10
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errHiggins, Jan; Dalgleish, Raymond; den Dunnen, Johan T.; Barsh, Greg; Freeman, Peter J.; Cooper, David N.; Cullinan, Sara; Davies, Kay E.; Dorkins, Huw; Gong, Li; Imoto, Issei; Klein, Teri E.; Korf, Bruce; Misra, Adya; Paalman, Mark H.; Ratzel, Sarah; Reichardt, Juergen K., V; Rehm, Heidi L.; Tokunaga, Katsushi; Weck, Karen E.; Cutting, Garry R.
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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
err2019-09-10
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errLe Roux, Bastien; Lenaers, Guy; Zanlonghi, Xavier; Amati-Bonneau, Patrizia; Chabrun, Floris; Foulonneau, Thomas; Caignard, Angelique; Leruez, Stephanie; Gohier, Philippe; Procaccio, Vincent; Milea, Dan; den Dunnen, Johan T.; Reynier, Pascal; Ferre, Marc
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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
err2019-09-03
err30
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errFokkema, Ivo F. A. C.; van der Velde, Kasper J.; Slofstra, Mariska K.; Ruivenkamp, Claudia A. L.; Vogel, Maartje J.; Pfundt, Rolph; Blok, Marinus J.; Deprez, Ronald H. Lekanne; Waisfisz, Quinten; Abbott, Kristin M.; Sinke, Richard J.; Rahman, Rubayte; Nijman, Isaac J.; de Koning, Bart; Thijs, Gert; Wieskamp, Nienke; Moritz, Ruben J. G.; Charbon, Bart; Saris, Jasper J.; den Dunnen, Johan T.; Laros, Jeroen F. J.; Swertz, Morris A.; van Gijn, Marielle E.
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Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining
err2019-09-01
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PREAI
errSchimmel, Joost; van Schendel, Robin; den Dunnen, Johan T.; Tijsterman, Marcel
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Skewed X-inactivation is common in the general female population
err2018-12-14
err117
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errShvetsova, Ekaterina; Sofronova, Alina; Monajemi, Ramin; Gagalova, Kristina; Draisma, Harmen H. M.; White, Stefan J.; Santen, Gijs W. E.; Lopes, Susana M. Chuva de Sousa; Heijmans, Bastiaan T.; van Meurs, Joyce; Jansen, Rick; Franke, Lude; Kielbasa, Szymon M.; den Dunnen, Johan T.; 't Hoen, Peter A. C.; Boomsma, Dorret I.; Pool, Rene; van Dongen, Jenny; Hottenga, Jouke J.; Van Greevenbroek, Marleen M. J.; Da Stehouwer, Coen; van der Kallen, Carla J. H.; Schalkwijk, Casper G.; Wijmenga, Cisca; Zhernakova, Sasha; Tigchelaar, Ettje F.; Slagboom, P. Eline; Beekman, Marian; Deelen, Joris; van Heemst, Diana; Veldink, Jan H.; van den Berg, Leonard H.; van Duijn, Cornelia M.; Hofman, Bert A.; Uitterlinden, Andre G.; Jhamai, P. Mila; Verbiest, Michael; Suchiman, H. Eka D.; Verkerk, Marijn; van der Breggen, Ruud; van Rooij, Jeroen; Lakenberg, Nico; Mei, Hailiang; Bot, Jan; Zhernakova, Dasha V.; 't Hof, Peter van; Deelen, Patrick; Nooren, Irene; Moed, Matthijs; Vermaat, Martijn; Luijk, Rene; Bonder, Marc Jan; van Iterson, Maarten; van Dijk, Freerk; van Galen, Michiel; Arindrarto, Wibowo; Swertz, Morris A.; van Zwet, Erik W.; Isaacs, Aaron; Francioli, L. C.; Menelaou, A.; Pulit, S. L.; Palamara, P. F.; Elbers, C. C.; Neerincx, P. B.; Ye, K.; Guryev, V.; Kloosterman, W. P.; Abdellaoui, A.; van Leeuwen, E. M.; van Oven, M.; Li, M.; Laros, J. F.; Karssen, L. C.; Kanterakis, A.; Amin, N.; Lameijer, E. W.; Kattenberg, M.; Dijkstra, M.; Byelas, H.; van Setten, J.; van Schaik, B. D.; Nijman, I. J.; Renkens, I.; Marschall, T.; Schonhuth, A.; Hehir-Kwa, J. Y.; Handsaker, R. E.; Polak, P.; Sohail, M.; Vuzman, D.; Hormozdiari, F.; van Enckevort, D.; Koval, V.; van der Velde, K. J.; Rivadeneira, F.; Estrada, K.; Medina-Gomez, C.; McCarroll, S. A.; de Craen, A. J.; Oostra, B.; Willemsen, G.; Platteel, M.; Pitts, S. J.; Potluri, S.; Sundar, P.; Cox, D. R.; Sunyaev, S. R.; Stoneking, M.; de Knijff, P.; Kayser, M.; Li, Q.; Li, Y.; Du, Y.; Chen, R.; Cao, H.; Li, N.; Cao, S.; Wang, J.; Bovenberg, J. A.; Pe'er, I.; van Ommen, G. J.; de Bakker, P. I.
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Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017)
err2018-09-01
err2
PREAI
errPetersen, Ulla M.; Padro-Miquel, Ariadna; Taylor, Graham; Hertz, Jens Michael; Ceder, Rebecca; Fuentes-Arderiu, Xavier; den Dunnen, Johan T.
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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes
err2018-08-10
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errOliveira, Jorge; Gruber, Angela; Cardoso, Marcio; Taipa, Ricardo; Fineza, Isabel; Goncalves, Ana; Laner, Andreas; Winder, Thomas L.; Schroeder, Jocelyn; Rath, Julie; Oliveira, Marcia E.; Vieira, Emilia; Sousa, Ana Paula; Vieira, Jose Pedro; Lourenco, Teresa; Almendra, Luciano; Negrao, Luis; Santos, Manuela; Melo-Pires, Manuel; Coelho, Teresa; den Dunnen, Johan T.; Santos, Rosario; Sousa, Mario
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Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefacts
err2018-07-01
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errvan der Gaag, Kristiaan J.; de Leeuw, Rick H.; Laros, Jeroen F. J.; den Dunnen, Johan T.; de Knijff, Peter
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Yet another database?
err2018-04-12
err2
errOAAI
errden Dunnen, Johan T.
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Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing
err2018-03-29
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errAnvar, Seyed Yahya; Allard, Guy; Tseng, Elizabeth; Sheynkman, Gloria M.; de Klerk, Eleonora; Vermaat, Martijn; Yin, Raymund H.; Johansson, Hans E.; Ariyurek, Yavuz; den Dunnen, Johan T.; Turner, Stephen W.; 't Hoen, Peter A. C.
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