Johan den Dunnen
Professor Emeritus Medical Genome Technology
- Name
- Prof.dr. J.T. den Dunnen
- j.t.den.dunnen@lumc.nl
- ORCID iD
- 0000-0002-6304-1710
Johan T den Dunnen is professor Medical Genomics in the LUMC, working in the departments of Human Genetics and Clinical Genetics.
More information about Johan den Dunnen
Johan T den Dunnen is professor Medical Genomics in the LUMC, working in the departments of Human Genetics and Clinical Genetics.
DNA diagnostics
Performing research in the area of genetic diseases. Initiated the Leiden Genome Technology Center (LGTC), the genomics and transcriptomics facility of the LUMC. His research focuses on the development and application of high-throughput genome technology in research and diagnosis. Started his career on Duchenne and Becker muscular dystrophy (DMD/BMD) and with his group developed several diagnostic tests as well as the “exon skipping” technology as a potential treatment for DMD/BMD and other diseases.
Current focus: next generation sequencing and data analysis pipelines, especially whole exome/genome sequencing and RNA-expression profiling. His group build the LOVD platform and initiated the LOVD databases facilitating DNA-diagnostics: does a variant have any consequences for the patient or not. He is active for several international organizations promoting data sharing and was a driving force in establishing the HGVS nomenclature, the world-standard to report variants in DNA, RNA and protein sequences.
DNA diagnostics is based on sharing data on genes, variants and phenotypes. Without sharing DNA diagnostics is not possible.
Academic career
Studied Biology at the Katholieke Universiteit Nijmegen (Nijmegen, Nederland)
PhD thesis 'Evolution of eye-lens crystallin genes', department Molecular Biology, Katholieke Universiteit Nijmegen, promoter: Prof.dr. J.G.G. Schoenmakers (Nijmegen, Nederland), April 10, 1987.
Professor Medical Genomics, appointed Januari 1, 2009.
Professor Emeritus Medical Genome Technology
- Faculteit Geneeskunde
- Divisie 4
- Humane Genetica
Contact
- Coillie, J. van; Pongracz, T.; Rahmoller, J.; Chen, H.J.; Geyer, C.E.; Vught, L.A. van; Buhre, J.S.; Sustic, T.; Osch, T.L. van; Steenhuis, M.; Hoepel, W.; Wang, W.J.; Lixenfeld, A.S.; Nouta, J.; Keijzer, S.; Linty, F.; Visser, R.; Larsen, M.D.; Martin, E.L.; Kunsting, I.; Lehrian, S.; Kopylow, V. von; Kern, C.; Lunding, H.B.; Winther, M. de; Mourik, N. van; Rispens, T.; Graf, T.; Slim, M.A.; Minnaar, R.P.; Bomers, M.K.; Sikkens, J.J.; Vlaar, A.P.J.; Schoot, C.E. van der; Dunnen, J. den; Wuhrer, M.; Ehlers, M.; Vidarsson, G.; Fatebenefratelli-Sacco Infect Dis & UMC COVID-19 S HCW Study Grp (2023), The BNT162b2 mRNA SARS-CoV-2 vaccine induces transient afucosylated IgG1 in naive but not in antigen-experienced vaccinees, EBioMedicine 87.
- Roos, D.; Leeuwen, K. van; Madkaikar, M.; Kambli, P.M.; Gupta, M.; Mathews, V.; Rawat, A.; Kuhns, D.B.; Holland, S.M.; Boer, M. de; Kanegane, H.; Parvaneh, N.; Lorenz, M.; Schwarz, K.; Klein, C.; Sherkat, R.; Jafari, M.; Wolach, B.; Dunnen, J.T. den; Kuijpers, T.W. & Koker, M.Y. (2023), Hematologically important mutations: Leukocyte adhesion deficiency (second update), Blood Cells, Molecules and Diseases 99.
- Goncalves, A.; Fortuna, A.; Ariyurek, Y.; Oliveira, M.E.; Nadais, G.; Pinheiro, J.; Dunnen, J.T. den; Sousa, M.; Oliveira, J. & Santos, R. (2022), Integrating whole-genome sequencing in clinical genetics, International Journal of Molecular Sciences 23(1).
- Hoepel, W.; Chen, H.J.; Geyer, C.E.; Allahverdiyeva, S.; Manz, X.D.; Taeye, S.W. de; Aman, J.; Mes, L.; Steenhuis, M.; Griffith, G.R.; Bonta, P.I.; Brouwer, P.J.M.; Caniels, T.G.; Straten, K. van der; Golebski, K.; Jonkers, R.E.; Larsen, M.D.; Linty, F.; Nouta, J.; Roomen, C.P.A.A. van; Baarle, F.E.H.P. van; Drunen, C.M. van; Wolbink, G.; Vlaar, A.P.J.; Bree, G.J. de; Sanders, R.W.; Willemsen, L.; Neele, A.E.; Beek, D. van de; Rispens, T.; Wuhrer, M.; Bogaard, H.J.; Gils, M.J. van; Vidarsson, G.; Winther, M. de & Dunnen, J. den (2021), High titers and low fucosylation of early human anti-SARS-CoV-2 IgG promote inflammation by alveolar macrophages, Science Translational Medicine 13(596).
- Houge, G.; Laner, A.; Cirak, S.; Leeuw, N. de; Scheffer, H. & Dunnen, J.T. den (2021), Stepwise ABC system for classification of any type of genetic variant, European Journal of Human Genetics 30.
- Beckers, P.; Caberg, J.H.; Dideberg, V.; Dangouloff, T.; Dunnen, J.T. den; Bours, V.; Servais, L. & Boemer, F. (2021), Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy, Scientific Reports 11(1).
- Guehlouz, K.; Foulonneau, T.; Amati-Bonneau, P.; Charif, M.; Colin, E.; Bris, C.; Desquiret-Dumas, V.; Milea, D.; Gohier, P.; Procaccio, V.; Bonneau, D.; Dunnen, J.T. den; Lenaers, G.; Reynier, P. & Ferre, M. (2021), ACO2 clinicobiological dataset with extensive phenotype ontology annotation, Scientific Data 8(1).
- Sluijs, P.J. van der; Alders, M.; Dingemans, A.J.M.; Parbhoo, K.; Bon, B.W. van; Dempsey, J.C.; Doherty, D.; Dunnen, J.T. den; Gerkes, E.H.; Milller, I.M.; Moortgat, S.; Regier, D.S.; Ruivenkamp, C.A.L.; Schmalz, B.; Smol, T.; Stuurman, K.E.; Vincent-Delorme, C.; Vries, B.B.A. de; Sadikovic, B.; Hickey, S.E.; Rosenfeld, J.A.; Maystadt, I. & Santen, G.W.E. (2021), A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria, Genes 12(8).
- Tavares, V.L.R.; Guimaraes-Ramos, S.L.; Zhou, Y.; Masotti, C.; Ezquina, S.; Moreira, D.D.; Buermans, H.; Freitas, R.S.; Dunnen, J.T. den; Twigg, S.R.F. & Passos-Bueno, M.R. (2021), New locus underlying auriculocondylar syndrome (ARCND), Journal of Medical Genetics.
- Lefter, M.; Vis, J.K.; Vermaat, M.; Dunnen, J.T. den; Taschner, P.E.M. & Laros, J.F.J. (2021), Mutalyzer 2: next generation HGVS nomenclature checker, Bioinformatics 37(18): 2811-2817.
- Tobias, E.S.; Avram, E.; Calapod, P.; Cordier, C.; Dunnen, J.T. den; Ding, C.; Dolzan, V.; Houge, S.D.; Lynch, S.A.; O'Byrne, J.; Patsalis, P.; Prokopenko, I.; Soares, C.A.; Tobias, A.P. & Newman, W.G. (2021), The role of the European Society of Human Genetics in delivering genomic education, Frontiers in Genetics 12.
- Bye, A.P.; Hoepel, W.; Mitchell, J.L.; Jegouic, S.; Loureiro, S.; Sage, T.; Vidarsson, G.; Nouta, J.; Wuhrer, M.; Taeye, S. de; Gils, M. van; Kriek, N.; Cooper, N.; Jones, I.; Dunnen, J. den & Gibbins, J.M. (2021), Aberrant glycosylation of anti-SARS-CoV-2 spike IgG is a prothrombotic stimulus for platelets, Blood 138(16): 1481-1489.
- Fokkema, I.F.A.C.; Kroon, M.; Hernandez, J.A.L.; Asscheman, D.; Lugtenburg, I.; Hoogenboom, J. & Dunnen, J.T. den (2021), The LOVD3 platform, European Journal of Human Genetics 29(12): 1796-1803.
- Larsen, M.D.; Graaf, E.L. de; Sonneveld, M.E.; Plomp, H.R.; Nouta, J.; Hoepel, W.; Chen, H.J.; Linty, F.; Visser, R.; Brinkhaus, M.; Sustic, T.; Taeye, S.W. de; Bentlage, A.E.H.; Toivonen, S.; Koeleman, C.A.M.; Sainio, S.; Kootstra, N.A.; Brouwer, P.J.M.; Geyer, C.E.; Derksen, N.I.L.; Wolbink, G.; Winther, M. de; Sanders, R.W.; Gils, M.J. van; Bruin, S. de; Vlaar, A.P.J.; Rispens, T.; Dunnen, J. den; Zaaijer, H.L.; Wuhrer, M.; Schoot, C.E.V.; Vidarsson, G. & Amsterdam UMC COVID-19 Biobank Stu (2021), Afucosylated IgG characterizes enveloped viral responses and correlates with COVID-19 severity, Science 371(6532): 907-+.
- Billiet, B.; Amati-Bonneau, P.; Desquiret-Dumas, V.; Guehlouz, K.; Milea, D.; Gohier, P.; Lenaers, G.; Mirebeau-Prunier, D.; Dunnen, J.T. den; Reynier, P. & Ferre, M. (2021), NR2F1 database, Human Mutation: Variation, Informatics and Disease 43(2).
- Higgins, J.; Dalgleish, R.; Dunnen, J.T. den; Barsh, G.; Freeman, P.J.; Cooper, D.N.; Cullinan, S.; Davies, K.E.; Dorkins, H.; Gong, L.; Imoto, I.; Klein, T.E.; Korf, B.; Misra, A.; Paalman, M.H.; Ratzel, S.; Reichardt, J.K.V.; Rehm, H.L.; Tokunaga, K.; Weck, K.E. & Cutting, G.R. (2021), Verifying nomenclature of DNA variants in submitted manuscripts, Human Mutation: Variation, Informatics and Disease 42(1): 3-7.
- Overkleeft, R.; Tommel, J.; Evers, A.W.M.; Dunnen, J.T. den; Roos, M.; Hoefmans, M.J.; Schrader, W.E.; Swen, J.J.; Numans, M.E. & Houwink, E.J.F. (2020), Using personal genomic data within primary care, Genes 11(12).
- Roux, B. le; Lenaers, G.; Zanlonghi, X.; Amati-Bonneau, P.; Chabrun, F.; Foulonneau, T.; Caignard, A.; Leruez, S.; Gohier, P.; Procaccio, V.; Milea, D.; Dunnen, J.T. den; Reynier, P. & Ferre, M. (2019), OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database, Orphanet Journal of Rare Diseases 14(1).
- Dunnen, J.T. den (2019), Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes, Human Mutation 40(8): 1009-1009.
- Kim, A.; Savary, C.; Dubourg, C.; Carre, W.; Mouden, C.; Hamdi-Roze, H.; Guyodo, H.; Douce, J. le; Pasquier, L.; Flori, E.; Gonzales, M.; Beneteau, C.; Boute, O.; Attie-Bitach, T.; Roume, J.; Goujon, L.; Akloul, L.; Odent, S.; Watrin, E.; Dupe, V.; Tayrac, M. de; David, V.; Genin, E.; Campion, D.; Dartigues, J.F.C.O.; Deleuze, J.F.; Lambert, J.C.; Redon, R.; Ludwig, T.; Grenier-Boley, B.; Letort, S.; Lindenbaum, P.; Meyer, V.; Quenez, O.; Dina, C.; Bellenguez, C.; Charbonnier-Le Clezio, C.; Giemza, J.; Chatel, S.; Ferec, C.; Marec, H. le; Letenneur, L.; Nicolas, G.; Rouault, K.; Bacq, D.; Boland, A.; Lechner, D.; Wijmenga, C.; Swertz, M.A.; Slagboom, P.E.; Ommen, G.J.B. van; Duijn, C.M. van; Boomsma, D.I.; Bakker, P.I.W. de; Bovenberg, J.A.; Slagboom, P.E.; Craen, A.J.M. de; Beekman, M.; Hofman, A.; Boomsma, D.I.; Willemsen, G.; Wolffenbuttel, B.; Platteel, M.; , Y.P. du; Chen, R.Y.; Cao, H.Z.; Cao, R.; Sun, Y.S.; Cao, J.S.; Swertz, M.A.; Dijk, F. van; Neerincx, P.B.T.; Deelen, P.; Dijkstra, M.; Byelas, G.; Kanterakis, A.; Bot, J.; Ye, K.; Lameijer, E.W.; Vermaat, M.; Laros, J.F.J.; Dunnen, J.T. den; Knijff, P. de; Karssen, L.C.; Leeuwen, E.M. van; Amin, N.; Koval, V.; Rivadeneira, F.; Estrada, K.; Hehirkwa, J.Y.; Ligt, J. de; Abdellaoui, A.; Hottenga, J.J.; Kattenberg, V.M.; Enckevort, D. van; Mei, H.; Santcroos, M.; Schaik, B.D.C. van; Handsaker, R.E.; McCarroll, S.A.; Eichler, E.E.; Ko, A.; Sudmant, P.; Francioli, L.C.; Kloosterman, W.P.; Nijman, I.J.; Guryev, V.; Bakker, P.I.W. de; FREX Consortium & GoNL Consortium (2019), Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly, Brain 142: 35-49.
- Shvetsova, E.; Sofronova, A.; Monajemi, R.; Gagalova, K.; Draisma, H.H.M.; White, S.J.; Santen, G.W.E.; Lopes, S.M.C.D.; Heijmans, B.T.; Meurs, J. van; Jansen, R.; Franke, L.; Kielbasa, S.M.; Dunnen, J.T. den; Hoen, P.A.C. 't; Boomsma, D.I.; Pool, R.; Dongen, J. van; Hottenga, J.J.; Greevenbroek, M.M.J. van; Stehouwer, C. da; Kallen, C.J.H. van der; Schalkwijk, C.G.; Wijmenga, C.; Zhernakova, S.; Tigchelaar, E.F.; Slagboom, P.E.; Beekman, M.; Deelen, J.; Heemst, D. van; Veldink, J.H.; Berg, L.H. van den; Duijn, C.M. van; Hofman, B.A.; Uitterlinden, A.G.; Jhamai, P.M.; Verbiest, M.; Suchiman, H.E.D.; Verkerk, M.; Breggen, R. van der; Rooij, J. van; Lakenberg, N.; Mei, H.L.; Bot, J.; Zhernakova, D.V.; Hof, P.V. 't; Deelen, P.; Nooren, I.; Moed, M.; Vermaat, M.; Luijk, R.; Bonder, M.J.; Iterson, M. van; Dijk, F. van; Galen, M. van; Arindrarto, W.; Kielbasa, S.M.; Swertz, M.A.; Zwet, E.W. van; Isaacs, A.; Francioli, L.C.; Menelaou, A.; Pulit, S.L.; Dijk, F. van; Palamara, P.F.; Elbers, C.C.; Neerincx, P.B.; Ye, K.; Guryev, V.; Kloosterman, W.P.; Deelen, P.; Abdellaoui, A.; Leeuwen, E.M. van; Oven, M. van; Vermaat, M.; Li, M.; Laros, J.F.; Karssen, L.C.; Kanterakis, A.; Amin, N.; Hottenga, J.J.; Lameijer, E.W.; Kattenberg, M.; Dijkstra, M.; Byelas, H.; Setten, J. van; Schaik, B.D. van; Bot, J.; Nijman, I.J.; Renkens, I.; Marschall, T.; Schonhuth, A.; Hehir-Kwa, J.Y.; Handsaker, R.E.; Polak, P.; Sohail, M.; Vuzman, D.; Hormozdiari, F.; Enckevort, D. van; Mei, H.; Koval, V.; Moed, M.H.; Velde, K.J. van der; Rivadeneira, F.; Estrada, K.; Medina-Gomez, C.; Isaacs, A.; McCarroll, S.A.; Beekman, M.; Craen, A.J. de; Suchiman, H.E.; Hofman, B.A.; Oostra, B.; Uitterlinden, A.G.; Willemsen, G.; Platteel, M.; Veldink, J.H.; Berg, L.H. van den; Pitts, S.J.; Potluri, S.; Sundar, P.; Cox, D.R.; Sunyaev, S.R.; Dunnen, J.T. den; Stoneking, M.; Knijff, P. de; Kayser, M.; Li, Q.; Li, Y.; , Y. du; Chen, R.; Cao, H.; Li, N.; Cao, S.; Wang, J.; Bovenberg, J.A.; Pe'er, I.; Slagboom, P.E.; Duijn, C.M. van; Boomsma, D.I.; Ommen, G.J. van; Bakker, P.I. de; Swertz, M.A.; Wijmenga, C.; BIOS Consortium & GoNL Consortium (2019), Skewed X-inactivation is common in the general female population, European Journal of Human Genetics 27.
- Schimmel, J.; Schendel, R. van; Dunnen, J.T. den & Tijsterman, M. (2019), Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining, Trends in Genetics 35(9): 632-644.
- Nersisyan, L.; Nikoghosyan, M.; Francioli, L.C.; Menelaou, A.; Pulit, S.L.; Elbers, C.C.; Kloosterman, W.P.; Setten, J. van; Nijman, I.J.; Renkens, I.; Bakker, P.I.W. de; Dijk, F. van; Neerincx, P.B.T.; Deelen, P.; Kanterakis, A.; Dijkstra, M.; Byelas, H.; Velde, K.J. van der; Platteel, M.; Swertz, M.A.; Wijmenga, C.; Palamara, P.F.; Pe'er, I.; Ye, K.; Lameijer, E.W.; Moed, M.H.; Beekman, M.; Craen, A.J.M. de; Suchiman, H.E.D.; Slagboom, P.E.; Guryev, V.; Abdellaoui, A.; Hottenga, J.J.; Kattenberg, M.; Willemsen, G.; Boomsma, D.I.; Leeuwen, E.M. van; Karssen, L.C.; Amin, N.; Rivadeneira, F.; Isaacs, A.; Hofman, A.; Uitterlinden, A.G.; Duijn, C.M. van; Oven, M. van; Kayser, M.; Vermaat, M.; Laros, J.F.J.; Dunnen, J.T. den; Enckevort, D. van; Mei, H.L.; Li, M.K.; Stoneking, M.; Schaik, B.D.C. van; Bot, J.; Marschall, T.; Schonhuth, A.; Hehir-Kwa, J.Y.; Handsaker, R.E.; Polak, P.; Sohail, M.; Vuzman, D.; Estrada, K.; McCarroll, S.A.; Sunyaev, S.R.; Hormozdiari, F.; Koval, V.; Medina-Gomez, C.; Oostra, B.; Veldink, J.H.; Berg, L.H. van den; Pitts, S.J.; Potluri, S.; Sundar, P.; Cox, D.R.; Knijff, P. de; Li, Q.B.; Li, Y.R.; , Y.P. du; Chen, R.Y.; Cao, H.Z.; Wang, J.; Li, N.; Cao, S.J.; Bovenberg, J.A.; Ommen, G.J.B. van; Arakelyan, A. & Genome Netherlands Consortium (2019), WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene, Scientific Reports 9.
- Shvetsova, E.; Sofronova, A.; Monajemi, R.; Gagalova, K.; Draisma, H.H.M.; White, S.J.; Santen, G.W.E.; Lopes, S.M.C.D.; Heijmans, B.T.; Meurs, J. van; Jansen, R.; Franke, L.; Kielbasa, S.M.; Dunnen, J.T. den; Hoen, P.A.C. 't; Boomsma, D.I.; Pool, R.; Dongen, J. van; Hottenga, J.J.; Greevenbroek, M.M.J. van; Stehouwer, C. da; Kallen, C.J.H. van der; Schalkwijk, C.G.; Wijmenga, C.; Zhernakova, S.; Tigchelaar, E.F.; Slagboom, P.E.; Beekman, M.; Deelen, J.; Heemst, D. van; Veldink, J.H.; Berg, L.H. van den; Duijn, C.M. van; Hofman, B.A.; Uitterlinden, A.G.; Jhamai, P.M.; Verbiest, M.; Suchiman, H.E.D.; Verkerk, M.; Breggen, R. van der; Rooij, J. van; Lakenberg, N.; Mei, H.L.; Bot, J.; Zhernakova, D.V.; Hof, P.V. 't; Deelen, P.; Nooren, I.; Moed, M.; Vermaat, M.; Luijk, R.; Bonder, M.J.; Iterson, M. van; Dijk, F. van; Galen, M. van; Arindrarto, W.; Kielbasa, S.M.; Swertz, M.A.; Zwet, E.W. van; Isaacs, A.; Francioli, L.C.; Menelaou, A.; Pulit, S.L.; Dijk, F. van; Palamara, P.F.; Elbers, C.C.; Neerincx, P.B.; Ye, K.; Guryev, V.; Kloosterman, W.P.; Deelen, P.; Abdellaoui, A.; Leeuwen, E.M. van; Oven, M. van; Vermaat, M.; Li, M.; Laros, J.F.; Karssen, L.C.; Kanterakis, A.; Amin, N.; Hottenga, J.J.; Lameijer, E.W.; Kattenberg, M.; Dijkstra, M.; Byelas, H.; Setten, J. van; Schaik, B.D. van; Bot, J.; Nijman, I.J.; Renkens, I.; Marschall, T.; Schonhuth, A.; Hehir-Kwa, J.Y.; Handsaker, R.E.; Polak, P.; Sohail, M.; Vuzman, D.; Hormozdiari, F.; Enckevort, D. van; Mei, H.; Koval, V.; Moed, M.H.; Velde, K.J. van der; Rivadeneira, F.; Estrada, K.; Medina-Gomez, C.; Isaacs, A.; McCarroll, S.A.; Beekman, M.; Craen, A.J. de; Suchiman, H.E.; Hofman, B.A.; Oostra, B.; Uitterlinden, A.G.; Willemsen, G.; Platteel, M.; Veldink, J.H.; Berg, L.H. van den; Pitts, S.J.; Potluri, S.; Sundar, P.; Cox, D.R.; Sunyaev, S.R.; Dunnen, J.T. den; Stoneking, M.; Knijff, P. de; Kayser, M.; Li, Q.; Li, Y.; , Y. du; Chen, R.; Cao, H.; Li, N.; Cao, S.; Wang, J.; Bovenberg, J.A.; Pe'er, I.; Slagboom, P.E.; Duijn, C.M. van; Boomsma, D.I.; Ommen, G.J. van; Bakker, P.I. de; Swertz, M.A.; Wijmenga, C.; BIOS Consortium & GoNL Consortium (2019), Skewed X-inactivation is common in the general female population, European Journal of Human Genetics 27(3): 455-465.
- Aartsma-Rus, A. & Dunnen, J.T. den (2019), Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples, Human Mutation 40(10): 1630-1633.
- Fokkema, I.F.A.C.; Velde, K.J. van der; Slofstra, M.K.; Ruivenkamp, C.A.L.; Vogel, M.J.; Pfundt, R.; Blok, M.J.; Deprez, R.H.L.; Waisfisz, Q.; Abbott, K.M.; Sinke, R.J.; Rahman, R.; Nijman, I.J.; Koning, B. de; Thijs, G.; Wieskamp, N.; Moritz, R.J.G.; Charbon, B.; Saris, J.J.; Dunnen, J.T. den; Laros, J.F.J.; Swertz, M.A. & Gijn, M.E. van (2019), Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data, Human Mutation 40(12): 2230-2238.
- Petersen, U.M.; Padro-Miquel, A.; Taylor, G.; Hertz, J.M.; Ceder, R.; Fuentes-Arderiu, X. & Dunnen, J.T. den (2018), Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (IUPAC Technical Report), Pure and Applied Chemistry 90(7): 1199-1220.
- Petersen, U.M.; Padro-Miquel, A.; Taylor, G.; Hertz, J.M.; Ceder, R.; Fuentes-Arderiu, X. & Dunnen, J.T. den (2018), Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017), Clinica Chimica Acta 484: 122-131.
- Monk, D.; Morales, J.; Dunnen, J.T. den; Russo, S.; Court, F.; Prawitt, D.; Eggermann, T.; Beygo, J.; Buiting, K.; Tumer, Z. & European Network Human Congenital (2018), Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains, Epigenetics 13(2): 117-121.
- Cline, M.S.; Liao, R.G.; Parsons, M.T.; Paten, B.; Alquaddoomi, F.; Antoniou, A.; Baxter, S.; Brody, L.; Cook-Deegan, R.; Coffin, A.; Couch, F.J.; Craft, B.; Currie, R.; Dlott, C.C.; Dolman, L.; Dunnen, J.T. den; Dyke, S.O.M.; Domchek, S.M.; Easton, D.; Fischmann, Z.; Foulkes, W.D.; Garber, J.; Goldgar, D.; Goldman, M.J.; Goodhand, P.; Harrison, S.; Haussler, D.; Kato, K.; Knoppers, B.; Markello, C.; Nussbaum, R.; Offit, K.; Plon, S.E.; Rashbass, J.; Rehm, H.L.; Robson, M.; Rubinstein, W.S.; Stoppa-Lyonnet, D.; Tavtigian, S.; Thorogood, A.; Zhang, C.; Zimmermann, M.; Burn, J.; Chanock, S.; Ratsch, G.; Spurdle, A.B.; Andreoletti, G.; Baker, D.; Brenner, S.; Brush, M.; Caputo, S.; Castera, L.; Cunningham, F.; Hoya, M. de la; Diekhans, M.; Dolinsky, J.; Dwight, S.; Eccles, D.; Feng, B.; Fiume, M.; Flicek, P.; Gaudet, P.; Garcia, E.G.; Haendel, M.; Haeussler, M.; Hahnen, E.; Houdayer, C.; Hunt, S.; James, P.; Lebo, M.; Lee, J.; Lerner-Ellis, J.; Lin, M.; Lincoln, S.; Malheiro, A.; Mesenkamp, A.; Monteiro, A.; Natzijl-Visser, E.; Ngeow, J.; North, K.; Parkinson, H.; Paschall, J.; Patrinos, G.; Phimister, B.; Radice, P.; Rainville, I.; Rasmussen, M.; Riley, G.; Rouleau, E.; Schmutzler, R.; Shefchek, K.; Sofia, H.; Southey, M.; Stuart, J.; Thomas, J.; Toland, A.; Truty, R.; Turn-Bull, C.; Vaur, D.; Vreeswijk, M.P.G.; Walker, L.; Walsh, M.; Wappenschmidt, B.; Weitzel, J.; Wright, M.; Zalunin, V.; Zaranek, A.; Zerbino, D.; Zhou, A.; Zhou, J.; Zook, J.; Paten, B.; Goldgar, D.; Tavtigian, S. & BRCA Challenge Authors (2018), BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2, PLoS Genetics 14(12).
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- Kemaladewi DU, Hoogaars WMH, van Heiningen SH, van Deutekom JCT, den Dunnen JT, van Ommen GJB, Aartsma-Rus AR, ten Dijke P & 't Hoen PAC (2009), Dual exon skipping in myostatin and dystrophin as a potential therapy for Duchenne muscular dystrophy, Neuromuscular Disorders 19(8-9): 577-577.
- Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J & Breuning M (2009), Split Hand-Foot Malformation, Tetralogy of Fallot, Mental Retardation and a 1 Mb 19p Deletion-Evidence for Further Heterogeneity?, American Journal of Medical Genetics Part A 149A(5): 975-981.
- Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar L, van Deutekom J, van Ommen GJ & den Dunnen JT (2009), Theoretic Applicability of Antisense-Mediated Exon Skipping for Duchenne Muscular Dystrophy Mutations, Human Mutation 30(3): 293-299.
- Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J & Breuning M (2009), Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?, American Journal of Medical Genetics Part A 149A(5): 975-81.
- Cotton RGH, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Moslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J & Watson M (2008), GENETICS The Human Variome Project, Science 322(5903).
- van Roon-Mom WMC, Pepers BA, 't Hoen PAC, Verwijmeren CACM, den Dunnen JT, Dorsman JC & van Ommen GB (2008), Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease, BMC Molecular Biology 9.
- Wildeman M, van Ophuizen E, den Dunnen JT & Taschner PEM (2008), Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker, Human Mutation 29(1).
- Zeng FY, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT & Wu Y (2008), Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients, Human Mutation 29(1).
- t Hoen PAC, Ariyurek Y, Thygesen HH, Vreugdenhil E, Vossen RHAM, de Menezes RX, Boer JM, van Ommen GJB & den Dunnen JT (2008), Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms, Nucleic Acids Research 36(21).
- van Roon-Mom WMC, Pepers BA, 't Hoen PAC, Verwijmeren CACM, den Dunnen JT, Dorsman JC & van Ommen GJB (2008), Nrf2-related oxidative stress response and impaired dopamine biosynthesis in a PC12 cell model of Huntington's disease, Journal of Neurology, Neurosurgery and Psychiatry 79.
- Ivliev AE, 't Hoen PAC, Villerius MP, den Dunnen JT & Brandt BW (2008), Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data, Nucleic Acids Research 36.
- Jelier R, 't Hoen PAC, Sterrenburg E, den Dunnen JT, van Ommen GJB, Kors JA & Mons B (2008), Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease, BMC Bioinformatics 9.
- Mons B, Ashburner M, Chichester C, van Mulligen E, Weeber M, den Dunnen J, van Ommen GJ, Musen M, Cockerill M, Hermjakob H, Mons A, Packer A, Pacheco R, Lewis S, Berkeley A, Melton W, Barris N, Wales J, Meijssen G, Moeller E, Roes PJ, Borner K & Bairoch A (2008), Calling on a million minds for community annotation in WikiProteins, Genome Biology 9(5).
- Walenkamp MJE, Keizer-Schrama SMPFD, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M & Wit JM (2008), Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2-> qter deletion detected by multiplex ligation probe amplification, Journal of Clinical Endocrinology and Metabolism 93(6).
- Oliveira J, Soares-Silva I, Fokkema I, Goncalves A, Cabral A, Diogo L, Galan L, Guimaraes A, Fineza I, den Dunnen JT & Santos R (2008), Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy, Journal of Human Genetics 53(6).
- Huang YC, de Morree A, van Remoortere A, Bushby K, Frants RR, Dunnen JT & van der Maarel SM (2008), Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle, Human Molecular Genetics 17(12).
- Pedotti P, t Hoen PA, Vreugdenhil E, Schenk GJ, Vossen RH, Ariyurek Y, de Hollander M, Kuiper R, van Ommen GJB, den Dunnen JT, Boer JM & de Menezes RX (2008), Can subtle changes in gene expression be consistently detected with different microarray platforms?, BMC Genomics 9.
- Alagaratnam S, Mertens BJA, Dalebout JC, Deelder AM, van Ommen GJB, den Dunnen JT & t Hoen PAC (2008), Serum protein profiling in mice: Identification of Factor XIIIa as a potential biomarker for muscular dystrophy, Proteomics 8(8).
- 't Hoen PAC, de Meijer EJ, Boer JM, Vossen RHAM, Turk R, Maatman RGHJ, Davies KE, van Ommen GJB, van Deutekom JCT & den Dunnen JT (2008), Generation and characterization of transgenic mice with the full-length human DMD gene, Journal of Biological Chemistry 283(9).
- Kayser M, Liu F, Cecile A, Janssens JW, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ljcken WFJ, den Dunnen JT, Heath S, Zelenika D, Despriet DDG, Klaver CCW, Vingerling JR, De Jong PTM, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA & van Duijn CM (2008), Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene, American Journal of Human Genetics 82(2).
- van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, van der Kooi AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ & van Ommen GJB (2007), Local dystrophin restoration with antisense oligonucleotide PRO051, New England Journal of Medicine 357(26).
- Ogino S, Gulley ML, den Dunnen JT & Wilson RB (2007), Standard mutation nomenclature in molecular diagnostics - Practical and educational challenges, Journal of Molecular Diagnostics 9(1).
- Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJB, Tanke HJ, Breuning MH & Szuhai K (2007), Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH, American Journal of Medical Genetics Part A 143A(6).
- Huang YC, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LVB, Straub V, Deelder A, Frants RR, den Dunnen JT, Bushby K & van der Maarel SM (2007), AHNAR, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration, FASEB Journal 21(3).
- van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJH, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CHCM, Hofstra RMW & Pinto YM (2007), Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene, Journal of the American College of Cardiology 49(25).
- Ruivenkamp C, Gijsbers A, Ariyurek Y, van Haeringen A, Bijlsma E, Knijnenburg J, Szuhai K, den Dunnen J & Breuning M (2007), SNP arrays to identify loci involved in mental retardation, Chromosome Research 15.
- White SJ, Vissers LELM, van Kessel AG, de Menezes RX, Kalay E, Lehesjoki AE, Giordano PC, van de Vosse E, Breuning MH, Brunner HG, den Dunnen JT & Veltman JA (2007), Variation of CNV distribution in five different ethnic populations, Cytogenetic and Genome Research 118(1).
- Cotton RGH, Auerbach AD, Brown AF, Carrera P, Christodoulou J, Claustre M, Compton J, Cox DW, De Baere E, den Dunnen JT, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert DW, Verma I & Vihinen M (2007), A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases, Human Mutation 28(10).
- Boon EMJ, Schleeht HB, Martin P, Daniels G, Vossen RHAM, Den Dunnen JT, Bakker B & Elles R (2007), Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated DNA isolated from maternal polymerisation using free fetal plasma, Prenatal Diagnosis 27(10).
- Sterrenburg E, van der Wees CGC, White SJ, Turk R, de Menezes RX, van Ommen GJB, den Dunnen JT & Hoen PAC (2006), Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4, Neurobiology of Disease 23(1).
- Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH & Rosenberg C (2006), A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance, Human Genetics 120(1).
- Aartsma-Rus A, Van Deutekom JCT, Fokkema IF, Van Ommen GJB & Den Dunnen JT (2006), Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule, Muscle and Nerve 34(2).
- Oberstein SAJL, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH & Hennekam RCM (2006), Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase, American Journal of Human Genetics 79(3).
- White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers ALJ, Lalic T, Janson AAM, Ginjaar HB, Breuning MH & den Dunnen JT (2006), Duplications in the DMD gene, Human Mutation 27(9).
- Aartsma-Rus A, Kaman WE, Weij R, den Dunnen JT, van Ommen GJB & van Deutekom JCT (2006), Exploring the frontiers of therapeutic dxon skipping for Duchenne muscular dystrophy by double targeting within one or multiple dxons, Molecular Therapy 14(3).
- Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJB, den Dunnen JT & Breuning MH (2006), Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications, European Journal of Human Genetics 14(2).
- Verheesen P, Roussis A, de Haard HJ, Groot AJ, Stam JC, den Dunnen JT, Frants RR, Verkleij AJ, Verrips CT & van der Maarel SM (2006), Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation, BBA - Proteins and Proteomics 1764(8).
- t' Hoen PAC, van der Wees CGC, Aartsma-Rus A, Turk R, Goyenvalle A, Danos O, Garcia L, van Ommen GJB, den Dunnen JT & van Deutekom JC (2006), Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy, Pharmacogenomics 7(3).
- White SJ & den Dunnen JT (2006), Copy number variation in the genome; the human DMD gene as an example, Cytogenetic and Genome Research 115(3-4).
- Turk R, Sterrenburg E, van der Wees CGC, de Meijer EJ, de Menezes RX, Groh S, Campbell KP, Noguchi S, van Ommen GJB, den Dunnen JT & 't Hoen PAC (2005), Common pathological mechanisms in mouse models for muscular dystrophies, FASEB Journal 19(13).
- Corthesy-Theulaz I, den Dunnen JT, Ferre P, Geurts JMW, Muller M, van Belzen N & van Ommen B (2005), Nutrigenomics: The impact of biomics technology on nutrition research, Annals of Nutrition and Metabolism 49(6).
- Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ & Giordano PC (2005), Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification, Journal of Medical Genetics 42(12).
- Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ & den Dunnen JT (2005), Deletion and duplication screening in the DMD gene using MLPA, European Journal of Human Genetics 13(11).
- Turk R, Sterrenburg E, de Meijer EJ, van Ommen GJB, den Dunnen JT & 't Hoen PAC (2005), Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling, BMC Genomics 6.
- Fokkema IFAC, den Dunnen JT & Taschner PEM (2005), LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach, Human Mutation 26(2).
- Huang YC, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, Haldane F, Laval S, Anderson LVB, Verrips T, Frants RR, de Haard H, Bushby K, den Dunnen J & van der Maarel SM (2005), Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display, European Journal of Human Genetics 13(6).
- Beiboer SHW, Wieringa-Jelsma T, Maaskant-Van Wijk PA, van der Schoot CE, van Zwieten R, Roos D, den Dunnen JT & de Haas M (2005), Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization, Transfusion 45(5).
- Dent KM, Dunn DM, von Niederhausern AC, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT, Weiss RB & Flanigan KM (2005), Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort, American Journal of Medical Genetics Part A 134A(3).
- Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJB, Breuning MH, Hennekam RC & Peters DJM (2005), Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease, American Journal of Human Genetics 76(4).
- Buzin CH, Feng JN, Yan J, Scaringe W, Liu Q, den Dunnen J, Mendell JR & Sommer SS (2005), Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotlide, Human Mutation 25(2).
- Aartsma-Rus A, Janson AAM, Kaman WE, Bremmer-Bout M, van Ommen GJB, den Dunnen JT & van Deutekom JCT (2004), Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense, American Journal of Human Genetics 74(1).
- Hofstra RMW, Mulder IM, Vossen R, de Koning-Gans PAM, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CHCM, van Ommen GJB, van Essen AJ & den Dunnen JT (2004), DGGE based whole-gene mutation scanning of the dystrophlin gene in Duchenne and Becker muscular dystrophy patients, Human Mutation 23(1).
- Yan J, Feng JN, Buzin CH, Scaringe W, Liu QA, Mendell JR, den Dunnen J & Sommer SS (2004), Three-tiered noninvasive diagnosis in 96% of patients with duchenne muscular dystrophy (DMD), Human Mutation 23(2).
- Dekkers LC, van der Plas MC, van Loenen PB, den Dunnen JT, van Ommen GJB, Fradkin LG & Noordermeer JN (2004), Embryonic expression patterns of the Drosophila dystrophin-associated glycoprotein complex orthologs, Gene Expression Patterns 4(2).
- 't Hoen PAC, Turk R, Boer JM, Sterrenburg E, de Menezes RX, van Ommen GJB & den Dunnen JT (2004), Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs, Nucleic Acids Research 32(4).
- Bremmer-Bout M, Aartsma-Rus A, de Meijer EJ, Kaman WE, Janson AAM, Vossen RHAM, van Ommen GJB, den Dunnen JT & van Deutekom JCT (2004), Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides, Molecular Therapy 10(2).
- Turk R, 't Hoen PAC, Sterrenburg E, de Menezes RX, de Meijer EJ, Boer JM, van Ommen GJB & den Dunnen JT (2004), Gene expression variation between mouse inbred strains, BMC Genomics 5.
- Aartsma-Rus A, Kaman WE, Bremmer-Bout M, Janson AAM, den Dunnen JT, van Ommen GJB & van Deutekom JCT (2004), Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells, Gene Therapy 11(18).
- Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KBM, Nijhuis JV, Bakker B, van Ommen GJB, den Dunnen JT & Breuning MH (2004), Genomic imbalances in mental retardation, Journal of Medical Genetics 41(4).
- Sterrenburg E, Turk R, 't Hoen PAC, van Deutekom JCT, Boer JM, van Ommen GJB & den Dunnen JT (2004), Large-scale gene expression analysis of human skeletal myoblast differentiation, Neuromuscular Disorders 14(8-9).
- Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT & Brookes AJ (2004), Complex SNP-related sequence variation in segmental genome duplications, Nature Genetics 36(8).
- White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH & den Dunnen JT (2004), Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses, Human Mutation 24(1).
- van Moorsel CHM, van Wijngaarden EE, Fokkema IFAC, den Dunnen JT, Roos D, van Zwieten R, Giordano PC & Harteveld CL (2004), beta-globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays, European Journal of Human Genetics 12(7).
- den Dunnen JT & Paalman MH (2003), Standardizing mutation nomenclature: Why bother.?, Human Mutation 22(3).
- van Koningsbruggen S, de Haard H, de Kievit P, Dirks RW, van Remoortere A, Groot AJ, van Engelen BGM, den Dunnen JT, Verrips CT, Frants RR & van der Maarel SM (2003), Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy, Journal of Immunological Methods 279(1-2).
- White SJ, Sterrenburg E, van Ommen GJB, den Dunnen JT & Breuning MH (2003), An alternative to FISH: detecting deletion and duplication carriers within 24 hours, Journal of Medical Genetics 40(10).
- Svensson BAT, Kreeft AJ, van Ommen GJB, den Dunnen JT & Boer JM (2003), GeneHopper: a web-based search engine to link gene-expression platforms through GenBank accession numbers, Genome Biology 4(5).
- van Essen AJ, Mulder IM, van der Vlies P, van der Hout AH, Buys CHCM, Hofstra RMW & den Dunnen JT (2003), Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy, American Journal of Medical Genetics 118A(3).
- Aartsma-Rus A, Janson AAM, Kaman WE, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJB & van Deutekom JCT (2003), Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients, Human Molecular Genetics 12(8).
- 't Hoen PAC, de Kort F, van Ommen GJB & den Dunnen JT (2003), Fluorescent labelling of cRNA for microarray applications, Nucleic Acids Research 31(5).
- Aartsma-Rus A, Bremmer-Bout M, Janson AAM, den Dunnen JT, van Ommen GJB & van Deutekom JCT (2002), Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy, Neuromuscular Disorders 12.
- Boer JM, de Meijer EJ, Mank EM, van Ommen GB & den Dunnen JT (2002), Expression profiling in stably regenerating skeletal muscle of dystrophin-deficient mdx mice, Neuromuscular Disorders 12.
- Sterrenburg E, Turk R, Boer JM, van Ommen GB & den Dunnen JT (2002), A common reference for cDNA microarray hybridizations, Nucleic Acids Research 30(21).
- Dorsman JC, Bremmer-Bout M, Pepers B, van Ommen GJB & Den Dunnen JT (2002), Interruption of perfect CAG repeats by CAA triplets improves the stability of glutamine-encoding repeat sequences, BioTechniques 33(5).
- Dorsman JC, Pepers B, Langenberg D, Kerkdijk H, Ijszenga M, den Dunnen JT, Roos RAC & van Ommen GJB (2002), Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells, Human Molecular Genetics 11(13).
- White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJB, Breuning MH & den Dunnen JT (2002), Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization, American Journal of Human Genetics 71(2).
- Gussoni E, Bennett RR, Muskiewicz KR, Meyerrose T, Nolta JA, Gilgoff I, Stein J, Chan YM, Lidov HG, Bonnemann CG, von Moers A, Morris GE, den Dunnen JT, Chamberlain JS, Kunkel LM & Weinberg K (2002), Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation, Journal of Clinical Investigation 110(6).
- Stec I, van Ommen GJB & den Dunnen JT (2001), WHSC1L1, on human chromosome 8p11.2, closely resembles WMSC1 and maps to a duplicated region shared with 4p16.3, Genomics 76(1-3).
- den Dunnen JT & Antonarakis E (2001), Nomenclature for the description of human sequence variations, Human Genetics 109(1).
- van Deutekom JCT, Bremmer-Bout M, Janson AAM, Ginjaar IB, Baas F, den Dunnen JT & van Ommen GJB (2001), Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells, Human Molecular Genetics 10(15).
- Stec I, van Vliet M, van Eijk R, Meijers H, Kroeze KHG, Dauwerse JG, van Ommen GJB, Cornelisse CJ, den Dunnen JT & Devilee P (2001), A partial BRCA1 sequence homology mapping to 4q28, Cytogenetics and Cell Genetics 94(1-2).
- Stec I, Nagl SB, van Ommen GJB & den Dunnen JT (2000), The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?
- den Dunnen JT & Antonarakis SE (2000), Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion.
- Spieker N, Beitsma M, van Sluis P, Roobeek I, den Dunnen JT, Speleman F, Caron H & Versteeg R (2000), An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p36.1 region implicated in neuroblastoma pathogenesis.
- Ginjaar IB, Kneppers ALJ, von der Meulen JDM, Anderson LVB, Bremmer-Bout M, van Deutekom JCT, Weegenaar J, den Dunnen JT & Bakker E (2000), Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family, European Journal of Human Genetics 8(10).
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