Publications 2009

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van WE, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, and de Brouwer AP.
Am.J.Hum.Genet., 85: 465-481 (2009).


Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix. Delom F, Burt E, Hoischen A, Veltman J, Groet J, Cotter FE, and Nizetic D.
Proteome.Sci., 7: 31 (2009).


FUNCTIONAL DIFFERENCES BETWEEN MESENCHYMAL STEM CELL POPULATIONS ARE REFLECTED BY THEIR TRANSCRIPTOME. Jansen BJ, Gilissen C, Roelofs H, Schaap-Oziemlak A, Veltman J, Raymakers RA, Jansen J, Kogler G, Figdor CG, Torensma R, and Adema GJ.
Stem Cells Dev., (2009).


Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? Jongmans MC, Pfundt R, Hehir-Kwa JY, Brunner HG, and Kerstjens-Frederikse WS.
Clin.Dysmorphol., (2009).


Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Koolen DA, Pfundt R, de LN, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, Geurts van Kessel A, Veltman JA, and de Vries BB.
Hum.Mutat., 30: 283-292 (2009).


Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, and Veltman JA.
Hum.Mutat., 30: 1082-1092 (2009).


Osteo-transcriptomics of human mesenchymal stem cells: Accelerated gene expression and osteoblast differentiation induced by vitamin D reveals c-MYC as an enhancer of BMP2-induced osteogenesis. Piek E, Sleumer LS, van Someren EP, Heuver L, de Haan JR, de Grijs I, Gilissen C, Hendriks JM, van Ravestein-van Os RI, Bauerschmidt S, Dechering KJ, and van Zoelen EJ.
Bone, (2009).


Disruption of the neurexin 1 gene is associated with schizophrenia. Rujescu D, Ingason A, Cichon S, Pietilainen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Moller HJ, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE, Sabatti C, Ophoff RA, Rietschel M, Nothen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, and Collier DA.
Hum.Mol.Genet., 18: 988-996 (2009).


MicroRNA hsa-miR-135b regulates mineralization in osteogenic differentiation of human Unrestricted Somatic Stem Cells (USSCs). Schaap-Oziemlak A, Raymakers RA, Bergevoet SM, Gilissen C, Jansen BJ, Adema GJ, Kogler G, le Sage C, Agami R, van der Reijden BA, and Jansen J.
Stem Cells Dev., (2009).


The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Ades LC, Peters G, Gibson K, Novara F, Pramparo T, Bernardina BD, 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, and de Vries BB.
Eur.J.Hum.Genet., (2009).


Genomic microarrays in mental retardation: from CNV to gene, from research to diagnosis. Vissers LE, de Vries BB, and Veltman JA.
J.Med.Genet., (2009).


Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, Geurts van Kessel A, Veltman JA, and Stankiewicz P.
Hum.Mol.Genet., 18: 3579-3593 (2009).


Forging links between human mental retardation-associated CNVs and mouse gene knockout models. Webber C, Hehir-Kwa JY, Nguyen DQ, de Vries BB, Veltman JA, and Ponting CP.
PLoS Genet., 5: e1000531 (2009).


Constitutional DNA copy number changes in ICSI children. Woldringh GH, Janssen IM, Hehir-Kwa JY, van den Elzen C, Kremer JA, de Boer P, and Schoenmakers EF.
Hum.Reprod., 24: 233-240 (2009).