D
Dominique Smeets
Researcher at Radboud University Nijmegen
Publications - 148
Citations - 8621
Dominique Smeets is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Chromosomal translocation & Comparative genomic hybridization. The author has an hindex of 50, co-authored 147 publications receiving 8086 citations. Previous affiliations of Dominique Smeets include Radboud University Nijmegen Medical Centre.
Papers
More filters
Journal ArticleDOI
Diagnostic Genome Profiling in Mental Retardation
Bert B.A. de Vries,Rolph Pfundt,M.A.R. Leisink,David A. Koolen,Lisenka E.L.M. Vissers,Irene M. Janssen,Simon V. van Reijmersdal,Willy M. Nillesen,Erik Huys,Nicole de Leeuw,Dominique Smeets,Erik A. Sistermans,Ton Feuth,Conny M.A. van Ravenswaaij-Arts,Ad Geurts van Kessel,Eric F.P.M. Schoenmakers,Han G. Brunner,Joris A. Veltman +17 more
TL;DR: The results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping.
Journal ArticleDOI
Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities
Lisenka E.L.M. Vissers,Bert B.A. de Vries,Kazutoyo Osoegawa,Irene M. Janssen,Ton Feuth,Chik On Choy,Huub Straatman,Walter van der Vliet,Erik Huys,Anke van Rijk,Dominique Smeets,Conny M. A. van Ravenswaaij-Arts,Nine V A M Knoers,Ineke van der Burgt,Pieter J. de Jong,Han G. Brunner,Ad Geurts van Kessel,Eric F.P.M. Schoenmakers,Joris A. Veltman +18 more
TL;DR: This high-resolution assay will facilitate the identification of novel genes involved in human mental retardation and/or malformation syndromes and will provide insight into the flexibility and plasticity of the human genome.
Journal ArticleDOI
Nijmegen breakage syndrome.
TL;DR: The clinical, immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different and NBS appears to be a separate entity not allelic with AT.
Journal ArticleDOI
Positional cloning of the gene for Nijmegen breakage syndrome.
Shinya Matsuura,Hiroshi Tauchi,Asako Nakamura,Noriko Kondo,Shuichi Sakamoto,Satoru Endo,Dominique Smeets,B. Sölder,Bernd H. Belohradsky,Vazken M. Der Kaloustian,Mitsuo Oshimura,Minoru Isomura,Yusuke Nakamura,Kenshi Komatsu +13 more
TL;DR: The authors reported the positional cloning of the Nijmegen breakage syndrome (NBS) gene, NBS1, from an 800-kb candidate region and detected the same 5-bp deletion in 13 individuals, and concluded that it is likely to be a founder mutation.
Journal ArticleDOI
Nijmegen Breakage Syndrome. The International Nijmegen Breakage Syndrome Study Group.
J.A.P. Hiel,C.M.R. Weemaes,L.P.W.J. van den Heuvel,B.G.M. van Engelen,F.J.M. Gabreëls,Dominique Smeets,C.J.A.M. van der Burgt,K.H. Chrzanowska,E. Bernatowska +8 more
TL;DR: Essential features found in NBS were microcephaly, usually without severe retardation, typical facial appearance, immunodeficiency, chromosomal instability, x ray hypersensitivity, and predisposition to malignancy.