Publications 2010

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia. Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N.
Am J Hum Genet. 2010 Dec 10;87(6):813-9. Epub 2010 Nov 18.


A de novo paradigm for mental retardation. Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, Del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA.
Nat Genet. 2010 Dec;42(12):1109-12. Epub 2010 Nov 14.


High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs. Lammers G, Gilissen C, Nillesen ST, Uijtdewilligen PJ, Wismans RG, Veltman JA, Daamen WF, van Kuppevelt TH.
Biomaterials. 2010 Nov;31(32):8299-312. Epub 2010 Aug 19.


The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, 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, de Vries BB.
Eur J Hum Genet. 2010 Oct;18(10):1171.


Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals. Franke B, Vasquez AA, Veltman JA, Brunner HG, Rijpkema M, Fernández G.
Biol Psychiatry. 2010 Sep 15;68(6):586-8. Epub 2010 Jul 17.


Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N.
J Med Genet. 2010 Sep;47(9):586-94. Epub 2010 Jun 24.


Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG.
Am J Hum Genet. 2010 Sep 10;87(3):418-23.


Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N.
J Med Genet. 2010 Sep;47(9):586-94.


Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, Brunner HG, Roscioli T, Oates E, Wilson M, Manzanares M, Gómez-Skarmeta JL, Stunnenberg HG, Lohrum M, van Bokhoven H, Zhou H.
PLoS Genet. 2010 Aug 19;6(8):e1001065.


The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma. Bralten LB, Gravendeel AM, Kloosterhof NK, Sacchetti A, Vrijenhoek T, Veltman JA, van den Bent MJ, Kros JM, Hoogenraad CC, Sillevis Smitt PA, French PJ.
Oncogene. 2010 Nov 18;29(46):6138-48. Epub 2010 Aug 16


SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG.
Cell. 2010 Jul 23;142(2):203-17. Epub 2010 Jul 15.


Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA.
Cytogenet Genome Res. 2010;129(4):275-9. Epub 2010 Jul 6.


Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW.
Am.J.Hum.Genet., 86(2): 240-7 (2010).


Massively parallel sequencing of ataxia genes after array-based enrichment. Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA.
Hum. Mutat., 2010 Apr;31(4):494-9.


Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI.
Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5943-51. Epub 2010 Jun 16.


Accurate distinction of pathogenic from benign CNVs in mental retardation. Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP, Veltman JA.
PLoS Comput Biol 6(4): e1000752


De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA.
Nat Genet. 2010 Jun;42(6):483-5. Epub 2010 May 2.


Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T.
Eur J Hum Genet. 2010 Apr;18(4):429-35. Epub 2009 Nov 18.


Understanding variable expressivity in microdeletion syndromes. Veltman JA, Brunner HG.
Nat Genet. 2010 Mar;42(3):192-3.


Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP.
Am J Med Genet A. 2010 Mar;152A(3):638-45.


Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B.
Am J Hum Genet. 2010 Mar 12;86(3):479-84.


Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P.
Am J Hum Genet. 2010 Feb 12;86(2):185-95.


Periventricular heterotopia in common microdeletion syndromes. van Kogelenberg M, Ghedia S, McGillivray G, Bruno D, Leventer R, Macdermot K, Nelson J, Nagarajan L, Veltman JA, de Brouwer AP, McKinlay Gardner RJ, van Bokhoven H, Kirk EP, Robertson SP.
Mol Syndromol. 2010 Feb;1(1):35-41. Epub 2010 Jan 8.


Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H.
Am.J.Hum.Genet. 86(2): 138-47 (2010).


Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H.
Am.J.Hum.Genet., 86(2): 254-61 (2010).