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Page 1
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: ockeloen cw. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MA, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels CE. Feberwee HE, et al. Among authors: ockeloen cw. Clin Genet. 2014 Feb;85(2):194-7. doi: 10.1111/cge.12125. Epub 2013 Apr 5. Clin Genet. 2014. PMID: 23557072 No abstract available.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Among authors: ockeloen cw. J Med Genet. 2013 Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. J Med Genet. 2013. PMID: 24123876
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ. Bramswig NC, et al. Among authors: ockeloen cw. Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1. Epub 2015 Aug 12. Hum Genet. 2015. PMID: 26264464
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D. Hempel M, et al. Among authors: ockeloen cw. Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003. Am J Hum Genet. 2015. PMID: 26340335 Free PMC article.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Stessman HAF, et al. Among authors: ockeloen cw. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004. Am J Hum Genet. 2016. PMID: 26942287 Free PMC article.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Ockeloen CW, et al. Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963285 Free PMC article.
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
Vermeulen K, de Boer A, Janzing JGE, Koolen DA, Ockeloen CW, Willemsen MH, Verhoef FM, van Deurzen PAM, van Dongen L, van Bokhoven H, Egger JIM, Staal WG, Kleefstra T. Vermeulen K, et al. Among authors: ockeloen cw. Am J Med Genet A. 2017 Jul;173(7):1821-1830. doi: 10.1002/ajmg.a.38280. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28498556
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD, Ockeloen CW, Venselaar H, Boulanger C, Brichard B, Sokal E, Pfundt R, Rinne T, van Beusekom E, Bloemen M, Vriend G, Revencu N, Carels CEL, van Bokhoven H, Zhou H. Khandelwal KD, et al. Among authors: ockeloen cw. Am J Med Genet A. 2017 Jul;173(7):1813-1820. doi: 10.1002/ajmg.a.38274. Epub 2017 May 17. Am J Med Genet A. 2017. PMID: 28513979
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