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Page 1
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O. Vermeesch JR, et al. Among authors: schoumans j. Eur J Hum Genet. 2007 Nov;15(11):1105-14. doi: 10.1038/sj.ejhg.5201896. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637806 Review.
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: schoumans j. J Med Genet. 2008 Feb;45(2):71-80. doi: 10.1136/jmg.2007.052910. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873117
Guidelines for cytogenetic investigations in tumours.
Hastings RJ, Bown N, Tibiletti MG, Debiec-Rychter M, Vanni R, Espinet B, van Roy N, Roberts P, van den Berg-de-Ruiter E, Bernheim A, Schoumans J, Chatters S, Zemanova Z, Stevens-Kroef M, Simons A, Heim S, Salido M, Ylstra B, Betts DR; Tumour Best Practice meeting; Eurogentest. Hastings RJ, et al. Among authors: schoumans j. Eur J Hum Genet. 2016 Jan;24(1):6-13. doi: 10.1038/ejhg.2015.35. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804401 Free PMC article. No abstract available.
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. Koolen DA, et al. Among authors: schoumans j. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Koolen DA, Sistermans EA, Nilessen W, Knight SJ, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BB. Koolen DA, et al. Among authors: schoumans j. Eur J Hum Genet. 2008 Mar;16(3):395-400. doi: 10.1038/sj.ejhg.5201975. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159213
94 results