Publications 2011

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. van Kogelenberg M, Lerone M, De Toni T, Divizia MT, de Brouwer AP, Veltman JA, van Bokhoven H, Robertson SP.
Am J Med Genet A. 2011 Dec;155A(12):3144-7.


Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells. Sanecka A, Ansems M, van Hout-Kuijer MA, Looman MW, Prosser AC, Welten S, Gilissen C, Sama IE, Huynen MA, Veltman JA, Jansen BJ, Eleveld-Trancikova D, Adema GJ.
Mol Immunol. 2011 Dec 30. [Epub ahead of print]


STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis. Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LA, Arkwright PD, Gennery A, Kullberg BJ, Veltman JA, Lilic D, van der Meer JW, Netea MG.
PLoS One. 2011;6(12):e29248. Epub 2011 Dec 14.


Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement. Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; the European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FP.
Am J Hum Genet. 2011 Dec 14.


Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW.
Am J Hum Genet. 2011 Dec 9;89(6):813-9.


Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.). van Kessel MA, Dutilh BE, Neveling K, Kwint MP, Veltman JA, Flik G, Jetten MS, Klaren PH, Op den Camp HJ.
AMB Express. 2011 Nov 18;1(1):41.


Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, Bonafé L, Dionisi-Vici C, Superti-Furga A.
Am J Med Genet A. 2011 Nov;155(11):2609-16.


Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19. Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH.
Am J Hum Genet. 2011 Oct 19. [Epub ahead of print]


De novo copy number variants associated with intellectual disability have a paternal origin and age bias. Hehir-Kwa JY, Rodríguez-Santiago B, Vissers LE, de Leeuw N, Pfundt R, Buitelaar JK, Pérez-Jurado LA, Veltman JA.
J Med Genet. 2011 Nov;48(11):776-8. Epub 2011 Oct 3.


High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9 positive patients. Noordermeer SM, Sanders MA, Gilissen C, Tönnissen E, van der Heijden A, Döhner K, Bullinger L, Jansen JH, Valk PJ, van der Reijden BA.
Blood. 2011 Sep 21. [Epub ahead of print]


SNP Array Analysis in Constitutional and Cancer Genome Diagnostics - Copy Number Variants, Genotyping and Quality Control. de Leeuw N, Hehir-Kwa JY, Simons A, Geurts van Kessel A, Smeets DF, Faas BH, Pfundt R.
Cytogenet Genome Res. 2011 Sep 16. [Epub ahead of print]


Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice. Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T.
PLoS Genet. 2011 Sep;7(9):e1002278. Epub 2011 Sep 8.


Empirical management of community-acquired pneumonia: impact of concurrent A/H1N1 influenza pandemic on guideline implementation. Cortoos PJ, Gilissen C, Mol PG, Van den Bossche F, Simoens S, Willems L, Leenaers H, Vandorpe L, Peetermans WE, Laekeman G.
J Antimicrob Chemother. 2011 Sep 15. [Epub ahead of print]


Unlocking Mendelian disease using exome sequencing. Gilissen C, Hoischen A, Brunner HG, Veltman JA.
Genome Biol. 2011 Sep 14;12(9):228. [Epub ahead of print]


STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis. van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Graaf CA, Kullberg BJ, van der Meer JW, Lilic D, Veltman JA, Netea MG.
N Engl J Med. 2011 Jul 7;365(1):54-61. Epub 2011 Jun 29.


De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB.
Nat Genet. 2011 Jun 26. doi: 10.1038/ng.868.


Association of the Alzheimer's Gene SORL1 With Hippocampal Volume in Young, Healthy Adults. Bralten J, Arias-Vásquez A, Makkinje R, Veltman JA, Brunner HG, Fernández G, Rijpkema M, Franke B.
Am J Psychiatry. 2011 Oct;168(10):1083-9. Epub 2011 Jul 5.


Nuclear Receptors Nur77 and Nurr1 Modulate Mesenchymal Stromal Cell Migration. Maijenburg MW, Gilissen C, Melief SM, Kleijer M, Weijer K, Brinke AT, Roelofs H, Tiel CM, Veltman JA, Vries CJ, Schoot CE, Voermans C.
Stem Cells Dev. 2011 Jun 1.


Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafé L, Veltman JA, Zabel B, Superti-Furga A.
Am J Hum Genet. 2011 May 13;88(5):608-15


Ultra-deep pyrosequencing of pmoA amplicons confirms the prevalence of Methylomonas and Methylocystis in Sphagnum mosses from a Dutch peat bog. Nardy Kip, Bas E. Dutilh, Yao Pan, Levente Bodrossy, Kornelia Neveling, Michael P. Kwint, Mike S. M. Jetten1 and Huub J. M. Op den Camp
Environmental Microbiology Reports (2011) 3(6), 667-673
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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB.
Clin Genet. 2011 Mar;79(3):296-9.


High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population. Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP.
Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39.


Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta. Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.
Am J Hum Genet. 2011 Mar 11;88(3):362-71.


Homozygosity mapping in outbred families with mental retardation. Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB.
Eur J Hum Genet. 2011 May;19(5):597-601. Epub 2011 Jan 19.