Publications 2008

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region. Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman JA, Larsen LA, Tumer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, and Speleman F.
J.Med.Genet., 45: 672-678 (2008).


CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet W, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, Geurts van Kessel A, Wijmenga C, Ophoff RA, and Veltman JA.
Mol.Psychiatry, 13: 261-266 (2008).


Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destree 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, 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, and de Vries BB.
J.Med.Genet., 45: 710-720 (2008).


Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo GM, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Raber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, de Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, and Eichler EE.
N.Engl.J.Med., 359: 1685-1699 (2008).


Reduced purifying selection prevails over positive selection in human copy number variant evolution. Nguyen DQ, Webber C, Hehir-Kwa J, Pfundt R, Veltman J, and Ponting CP.
Genome Res., 18: 1711-1723 (2008).


Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, Geurts van Kessel A, and van Ravenswaaij-Arts CM.
Am.J.Med.Genet.A, 146A: 1430-1438 (2008).


Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, and Veltman JA.
Am.J.Hum.Genet., 83: 504-510 (2008).