Publications 2012

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S.
Eur J Hum Genet. 2012 Dec 19. doi: 10.1038/ejhg.2012.257. [Epub ahead of print]


A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP
Hum Mol Genet. 2012 Nov 22. [Epub ahead of print]


Identification and analysis of inherited retinal disease genes. Neveling K, den Hollander AI, Cremers FP, Collin RW.
Methods Mol Biol. 2013;935:3-23. doi: 10.1007/978-1-62703-080-9_1.


Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome. Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG.
Am J Hum Genet. 2012 Nov 14. doi:pii: S0002-9297(12)00536-8. 10.1016/j.ajhg.2012.10.013. [Epub ahead of print]


Length of stay after reaching clinical stability drives hospital costs associated with adult community-acquired pneumonia. Cortoos PJ, Gilissen C, Laekeman G, Peetermans WE, Leenaers H, Vandorpe L, Simoens S
Scand J Infect Dis. 2012 Oct 31. [Epub ahead of print]


Diagnostic exome sequencing in persons with severe intellectual disability. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.
N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.


An integrated framework of personalized medicine: from individual genomes to participatory health care. Evers AW, Rovers MM, Kremer JA, Veltman JA, Schalken JA, Bloem BR, van Gool AJ.
Croat Med J. 2012 Aug 15;53(4):301-3.


Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Kö rner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ.
Hum Mol Genet. 2012 Jul 25. [Epub ahead of print]


De novo mutations in human genetic disease. Veltman JA, Brunner HG.
Nat Rev Genet. 2012 Jul 18;13(8):565-75. doi: 10.1038/nrg3241.


Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability. Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H
Am J Hum Genet. 2012 Jul 13;91(1):73-82. Epub 2012 Jun 21.


Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. Willemsen MH, de Leeuw N, de Brouwer AP, Pfundt R, Hehir-Kwa JY, Yntema HG, Nillesen WM, de Vries BB, van Bokhoven H, Kleefstra T.
Eur J Med Genet. 2012 Jul 14. [Epub ahead of print]


Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families Ajmal M, Khan MI, Neveling K, Khan YM, Ali SH, Ahmed W, Iqbal MS, Azam M, den Hollander AI, Collin RW, Qamar R, Cremers FP.
Mol Vis. 2012;18:1558-71. Epub 2012 Jun 13.


BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients. Tlili A, Hoischen A, Ripoll C, Benabou E, Badel A, Ronan A, Touraine R, Grattau Y, Stora S, van Bon B, de Vries B, Menten B, Bockaert N, Gecz J, Antonarakis SE, Campion D, Potier MC, Bléhaut H, Delabar JM, Janel N.
Mol Neurobiol. 2012 Jun 5. [Epub ahead of print]


Cantú Syndrome Is Caused by Mutations in ABCC9 van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A.
Am J Hum Genet. 2012 Jun 8;90(6):1094-101. Epub 2012 May 17.


Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis. Toonen EJ, Gilissen C, Franke B, Kievit W, Eijsbouts AM, den Broeder AA, van Reijmersdal SV, Veltman JA, Scheffer H, Radstake TR, van Riel PL, Barrera P, Coenen MJ.
PLoS One. 2012;7(3):e33199. Epub 2012 Mar 21.


Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB.
Nat Genet. 2012 Apr 29. doi: 10.1038/ng.2262.


Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Cossec JC, Lavaur J, Berman DE, Rivals I, Hoischen A, Stora S, Ripoll C, Mircher C, Grattau Y, Olivomarin JC, de Chaumont F, Lecourtois M, Antonarakis SE, Veltman JA, Delabar JM, Duyckaerts C, Di Paolo G, Potier MC.
Hum Mol Genet. 2012 Apr 24.


Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadza DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H.
Nat Genet. 2012 Apr 22. doi: 10.1038/ng.2253.


Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, Vissers L, Geurts van Kessel A.
Expert Opin Biol Ther. 2012 Apr 16.


Identification of common variants associated with human hippocampal and intracranial volumes. Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann O, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS, Kim S, Laje G, Lee PH, Liu X, Loth E, Lourdusamy A, Mattingsdal M, Mohnke S, Maniega SM, Nho K, Nugent AC, O'Brien C, Papmeyer M, Pütz B, Ramasamy A, Rasmussen J, Rijpkema M, Risacher SL, Roddey JC, Rose EJ, Ryten M, Shen L, Sprooten E, Strengman E, Teumer A, Trabzuni D, Turner J, van Eijk K, van Erp TG, van Tol MJ, Wittfeld K, Wolf C, Woudstra S, Aleman A, Alhusaini S, Almasy L, Binder EB, Brohawn DG, Cantor RM, Carless MA, Corvin A, Czisch M, Curran JE, Davies G, de Almeida MA, Delanty N, Depondt C, Duggirala R, Dyer TD, Erk S, Fagerness J, Fox PT, Freimer NB, Gill M, Göring HH, Hagler DJ, Hoehn D, Holsboer F, Hoogman M, Hosten N, Jahanshad N, Johnson MP, Kasperaviciute D, Kent JW Jr, Kochunov P, Lancaster JL, Lawrie SM, Liewald DC, Mandl R, Matarin M, Mattheisen M, Meisenzahl E, Melle I, Moses EK, Mühleisen TW, Nauck M, Nöthen MM, Olvera RL, Pandolfo M, Pike GB, Puls R, Reinvang I, Rentería ME, Rietschel M, Roffman JL, Royle NA, Rujescu D, Savitz J, Schnack HG, Schnell K, Seiferth N, Smith C, Steen VM, Valdés Hernández MC, Van den Heuvel M, van der Wee NJ, Van Haren NE, Veltman JA, Völzke H, Walker R, Westlye LT, Whelan CD, Agartz I, Boomsma DI, Cavalleri GL, Dale AM, Djurovic S, Drevets WC, Hagoort P, Hall J, Heinz A, Jack CR Jr, Foroud TM, Le Hellard S, Macciardi F, Montgomery GW, Poline JB, Porteous DJ, Sisodiya SM, Starr JM, Sussmann J, Toga AW, Veltman DJ, Walter H, Weiner MW; the Alzheimer's Disease Neuroimaging Initiative (ADNI); EPIGEN Consortium; IMAGEN Consortium; Saguenay Youth Study Group (SYS), Bis JC, Ikram MA, Smith AV, Gudnason V, Tzourio C, Vernooij MW, Launer LJ, Decarli C, Seshadri S; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium, Andreassen OA, Apostolova LG, Bastin ME, Blangero J, Brunner HG, Buckner RL, Cichon S, Coppola G, de Zubicaray GI, Deary IJ, Donohoe G, de Geus EJ, Espeseth T, Fernández G, Glahn DC, Grabe HJ, Hardy J, Hulshoff Pol HE, Jenkinson M, Kahn RS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Meyer-Lindenberg A, Morris DW, Müller-Myhsok B, Nichols TE, Ophoff RA, Paus T, Pausova Z, Penninx BW, Potkin SG, Sämann PG, Saykin AJ, Schumann G, Smoller JW, Wardlaw JM, Weale ME, Martin NG, Franke B, Wright MJ, Thompson PM.
Nat Genet. 2012 Apr 15;44(5):552-561.


Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield. Nelen M, Veltman JA.
Pharmacogenomics. 2012 Apr;13(5):511-4.


Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE.
Am J Hum Genet. 2012 Apr 6;90(4):599-613.


A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome. Vulto-van Silfhout AT, de Brouwer AF, de Leeuw N, Obihara CC, Brunner HG, de Vries BB.
Mol Syndromol. 2012 Apr;2(6):245-250. Epub 2012 Feb 10.


Exom-Sequenzierung zur Identifizierung von Krankheitsgenen Neveling K, Hoischen A
Medgen 2012, 24:4-11


Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M.
Nat Genet. 2012 Mar 18. doi: 10.1038/ng.2217. [Epub ahead of print]


KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas. Brockschmidt A, Trost D, Peterziel H, Zimmermann K, Ehrler M, Grassmann H, Pfenning PN, Waha A, Wohlleber D, Brockschmidt FF, Jugold M, Hoischen A, Kalla C, Waha A, Seifert G, Knolle PA, Latz E, Hans VH, Wick W, Pfeifer A, Angel P, Weber RG.
Brain. 2012 Mar 16. [Epub ahead of print]


Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T.
J Med Genet. 2012 Mar;49(3):179-83.


A phenotype map for 14q32.3 terminal deletions. Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiß-Nachtsheim M, Reutter H.
Am J Med Genet A. 2012 Apr;158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24.


Targeted Next Generation Sequencing Reveals a Novel Intragenic Deletion of the TPO Gene in a Family with Intellectual Disability. Iqbal Z, Neveling K, Razzaq A, Shahzad M, Zahoor MY, Qasim M, Gilissen C, Wieskamp N, Kwint MP, Gijsen S, de Brouwer AP, Veltman JA, Riazuddin S, van Bokhoven H.
Arch Med Res. 2012 Feb 29. [Epub ahead of print]


De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB.
Nat Genet. 2012 Feb 26. doi: 10.1038/ng.1091. [Epub ahead of print]


Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP.
Am J Hum Genet. 2012 Mar 9;90(3):426-33. Epub 2012 Feb 16.


Next-generation genetic testing for retinitis pigmentosa. Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H.
Hum Mutat. 2012 Feb 14. doi: 10.1002/humu.22045. [Epub ahead of print]


De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome. Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.
Am J Hum Genet. 2012 Jan 18. [Epub ahead of print]


Disease gene identification strategies for exome sequencing. Gilissen C, Hoischen A, Brunner HG, Veltman JA.
Eur J Hum Genet. 2012 Jan 18. doi: 10.1038/ejhg.2011.258. [Epub ahead of print]


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; European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FP.
Am J Hum Genet. 2012 Jan 13;90(1):102-9. Epub 2011 Dec 15.


Structural genomic variation in intellectual disability. Pfundt R, Veltman JA.
Methods Mol Biol. 2012;838:77-95.


Microdeletion and microduplication syndromes. Vissers LE, Stankiewicz P.
Methods Mol Biol. 2012;838:29-75.


Amplified segment in the'Down Syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2. Canzonetta C, Hoischen A, Giarin E, Basso G, Veltman JA, Nacheva E, Nizetic D,
Groet J.
Br J Haematol. 2012 Jan 5. doi: 10.1111/j.1365-2141.2011.08985.x. [Epub ahead of print]