Publications 2007

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, and Koenekoop RK.
Invest Ophthalmol.Vis.Sci., 48: 5690-5698 (2007).


Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der ZB, Gosens I, Kersten FF, van WE, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, and Roepman R.
Nat.Genet., 39: 889-895 (2007).


Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Feenstra I, Vissers LE, Orsel M, Geurts van Kessel A, Brunner HG, Veltman JA, and van Ravenswaaij-Arts CM.
Am.J.Med.Genet.A, 143A: 1858-1867 (2007).


Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis. Hehir-Kwa JY, Egmont-Petersen M, Janssen IM, Smeets D, Geurts van Kessel A, and Veltman JA.
DNA Res., 14: 1-11 (2007).


High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression. Kuiper RP, Schoenmakers EF, van Reijmersdal SV, Hehir-Kwa JY, Geurts van Kessel A, van Leeuwen FN, and Hoogerbrugge PM.
Leukemia, 21: 1258-1266 (2007).


High-resolution genomic microarrays for X-linked mental retardation. Lugtenberg D, Veltman JA, and van Bokhoven H.
Genet.Med., 9: 560-565 (2007).


Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, bdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, and Lee B.
Am.J.Med.Genet.A, 143A: 1071-1081 (2007).


Characterization of a recurrent 15q24 microdeletion syndrome. Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, and Eichler EE.
Hum.Mol.Genet., 16: 567-5 72 (2007).


Genomic copy number analysis in mental retardation: finding the needles in the haystack. Veltman JA.
Eur.J.Hum.Genet., 15: 1-2 (2007).


Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics. Veltman JA and de Vries BB.
J.Mol.Diagn., 9: 277 (2007).


Molecular karyotyping by means of array CGH; Linking gene dosage alterations to disease phenotypes. Veltman JA and Vissers LELM.
In: DNA Microarrays. Ed. Ulrike Nuber, in press

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, Geurts van Kessel A, Lupski JR, and Veltman JA.
Hum.Genet., 121: 697-709 (2007).


Variation of CNV distribution in five different ethnic populations. White SJ, Vissers LE, Geurts van KA, de Menezes RX, Kalay E, Lehesjoki AE, Giordano PC, van der Vliet W, Breuning MH, Brunner HG, den Dunnen JT, and Veltman JA.
Cytogenet.Genome Res., 118: 19-30 (2007).