Dr. David A. Koolen, MD, PhD.

Dr. David Koolen

Clinical Geneticist
Radboud University Medical Centre
Department of Human Genetics

Contact Information

Radboud University Medical Centre
PO Box 9101, 6500 HB, The Netherlands
Email: [email protected]
Telephone Number: 0031 24 3613946
Fax Number: 0031 24 3668753


MD – Medical School, Radboud University Nijmegen, The Netherlands (2002)
Residency – Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands (2003-2011)
Doctorate – Radboud University Nijmegen, The Netherlands (2008) (cum laude)
Thesis: Copy number variation and mental retardation

Research Interests

Over the last ten years I’ve been involved in the identification of various novel syndromes associated with neurodevelopmental disorders, such as the Koolen-de Vries syndrome (KdVS), thereby substantiating the “genome first‟ paradigm in clinical genetics as a genuine and successful concept. Since the recognition of the KdVS in 2006, this syndrome is my main focus of research. We keep collecting clinical data on individuals with KdVS. Based on these clinical data we will generate specific management protocols, including proposals for clinical evaluations following the initial diagnosis, treatment of manifestations, prevention of secondary complications, and surveillance. The protocols will provide accurate information for monitoring of co-morbidity to medical professionals and counseling of patients and families. Moreover, in collaboration with others, we perform fundamental research in order to unravel the underlying molecular mechanisms of the KdVS.

Interestingly, with the implementation of next-generation sequencing novel syndromes will be identified and as such, for the years to come, my goal is to unravel neurodevelopmental disorders and to reach clinically well-defined diagnoses.


Selection out 43 papers:

1: Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2015 Aug 26.

2: Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis. 2015 May;38(3):437-43. doi: 10.1007/s10545-015-9823-y. Epub 2015 Mar 4.

3: Maley AM, Spraker MK, de Vries BB, Koolen DA. Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome. Clin Dysmorphol. 2015 Apr;24(2):86-7.

4: Ockeloen CW, Cobben JM, Marcelis CL, Koolen DA. A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). Clin Dysmorphol. 2013 Jul;22(3):106-8.

5: de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9.

6: Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639-41.

7: Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE. Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet. 2012 Apr 6;90(4):599-613.

8: Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. Eur J Hum Genet. 2012 Jul;20(7):729-33.

9: Koolen DA,, de Vries BBA. KANSL1-Related Intellectual Disability Syndrome. 2010 Jan 26 [updated 2013 Jan 10]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from http://www.ncbi.nlm.nih.gov/books/NBK24676/ PubMed PMID: 20301783.

10: van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet. 2010 Feb;18(2):163-70.

11: Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat. 2009 Mar;30(3):283-92.

12: Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008 Nov;45 (11):710-20.

13: 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. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006 Sep;38(9):999-1001.

Single Post Category

Subscribe to our emails

By submitting this form, you are consenting to receive marketing emails from: . You can revoke your consent to receive emails at any time by using the SafeUnsubscribe® link, found at the bottom of every email. Emails are serviced by Constant Contact