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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Tjitske Kleefstra


849 Department of Human Genetics

PO Box 9101

6500 HB Nijmegen

The Netherlands;


Name/email consistency: high



  • RUNMC, 849 Department of Human Genetics, PO Box 9101, 6500 HB Nijmegen, The Netherlands;. 2011
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands. 2004 - 2010


  1. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. Willemsen, M.H., Vallès, A., Kirkels, L.A., Mastebroek, M., Olde Loohuis, N., Kos, A., Wissink-Lindhout, W.M., de Brouwer, A.P., Nillesen, W.M., Pfundt, R., Holder-Espinasse, M., Vallée, L., Andrieux, J., Coppens-Hofman, M.C., Rensen, H., Hamel, B.C., van Bokhoven, H., Aschrafi, A., Kleefstra, T. J. Med. Genet. (2011) [Pubmed]
  2. Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. Kleefstra, T., de Leeuw, N., Wolf, R., Nillesen, W.M., Schobers, G., Mieloo, H., Willemsen, M., Perrotta, C.S., Poddighe, P.J., Feenstra, I., Draaisma, J., van Ravenswaaij-Arts, C.M. Am. J. Med. Genet. A (2010) [Pubmed]
  3. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Kleefstra, T., van Zelst-Stams, W.A., Nillesen, W.M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M.H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M.P., Innes, M., Davies, C., López, A.G., Casalone, R., Weber, A., Brueton, L.A., Navarro, A.D., Bralo, M.P., Venselaar, H., Stegmann, S.P., Yntema, H.G., van Bokhoven, H., Brunner, H.G. J. Med. Genet. (2009) [Pubmed]
  4. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. Kleefstra, T., Koolen, D.A., Nillesen, W.M., de Leeuw, N., Hamel, B.C., Veltman, J.A., Sistermans, E.A., van Bokhoven, H., van Ravenswaay, C., de Vries, B.B. Am. J. Med. Genet. A (2006) [Pubmed]
  5. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Kleefstra, T., Brunner, H.G., Amiel, J., Oudakker, A.R., Nillesen, W.M., Magee, A., Geneviève, D., Cormier-Daire, V., van Esch, H., Fryns, J.P., Hamel, B.C., Sistermans, E.A., de Vries, B.B., van Bokhoven, H. Am. J. Hum. Genet. (2006) [Pubmed]
  6. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Kleefstra, T., Yntema, H.G., Nillesen, W.M., Oudakker, A.R., Mullaart, R.A., Geerdink, N., van Bokhoven, H., de Vries, B.B., Sistermans, E.A., Hamel, B.C. Eur. J. Hum. Genet. (2004) [Pubmed]
  7. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Kleefstra, T., Franken, C.E., Arens, Y.H., Ramakers, G.J., Yntema, H.G., Sistermans, E.A., Hulsmans, C.F., Nillesen, W.N., van Bokhoven, H., de Vries, B.B., Hamel, B.C. Clin. Genet. (2004) [Pubmed]
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