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Publications from the Register

On this page, you can find a selection of publications from the ECARUCA Team members.

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.
Zwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM

J Neurodev Disord. 2016 Apr 26;8:16.

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Clinical utility gene card for: CHARGE syndrome - update 2015.
van Ravenswaaij-Arts CM, Blake K, Hoefsloot L, Verloes A

Eur J Hum Genet. 2015 Oct;23(11).

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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T

Eur J Hum Genet. 2015 Sep;23(9):1176-1185.

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Phenotypic Variability Associated with a large Recurrent 1q21.1 Microduplication in a Three-Generation Family.
Verhagen JM, de Leeuw N, Papatsonis DN, Grijseels EW, de Krijger RR, Wessels MW

Mol Syndromol. 2015 Jul;6(2):71-6.

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3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients.
Dimitrov BI, Ogilvie C, Wieczorek D, Wakeling E, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Josifova D

Am J Med Genet A. 2015 Jun;167(6):1223-30.

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The clustering of functionally related genes contributes to CNV-mediated disease.
Andrews T, Honti F, Pfundt R, de Leeuw N, Hehir-Kwa J, Vulto-van Silfhout A, de Vries B, Webber C

Genome Res. 2015 Jun;25(6):802-13.

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Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome.
Maley AM, Spraker MK, de Vries BB, Koolen DA

Clin Dysmorphol. 2015 Apr;24(2):86-7.

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A 12q24.31 interstitial deletion in an adult male with MODY3: Neuropsychiatric and neuropsychological characteristics.
Verhoeven WM, Egger JI, van den Bergh JP, van Beek R, Kleefstra T, de Leeuw N

Am J Med Genet A. 2015 Jan;167A(1):169-73.

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Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.
Bosch DG, Boonstra FN, Pfundt R, Cremers FP, de Vries BB

Clin Dysmorphol. 2015 Jan;24(1):34-7.

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Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM

Am J Med Genet A. 2014 Nov;164A(11):2707-23.

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Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE

Nat Genet. 2014 Oct;46(10):1063-71.

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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Moller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rodningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Stromme P, Kjaergaard S, Tumer Z, Kleefstra T

Hum Genet. 2014 May;133(5):625-38.

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Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.
de Leeuw N, Houge G

Am J Hum Genet. 2014 Jan 2;94(1):153-4.

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A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.
Zada A, Mundhofir FE, Pfundt R, Leijsten N, Nillesen W, Faradz SM, de Leeuw N

Case Rep Genet. 2014;2014:530134. [Epub 2014 Mar 30]

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, Fitzpatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Vooren SV, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, Leeuw ND, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN.

Nucleic Acids. 2013 Nov 11. [Epub ahead of print]

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Pathogenic or not? Assessing the clinical relevance of copy number variants.
Hehir-Kwa J, Pfundt R, Veltman J, de Leeuw N

Clin Genet. 2013 Nov;84(5):415-21.

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Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing.
De Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY

Hum Mutat. 2013 Oct; 34(10):1439-48

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Clinical significance of de novo and inherited copy number variation.
Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, Thoonen IJ, de Brouwer AP, Brunner HG, Webber C, Pfundt R, de Leeuw N, de Vries BB

Hum Mutat. 2013 Sep 13; doi: 10.1002/humu.22442. [Epub ahead of print].

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Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer.
de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP

Gastroenterology. 2013 Sep; ;145(3):544-7.

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CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.
van Bon BW, Oortveld MA, Nijtmans LG, Fenckova M, Nijhof B, Besseling J, Vos M, Kramer JM, de Leeuw N, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BB, Schenck A

Hum Mol Genet. 2013 Aug 1;22(15):3138-51.

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Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.
van Trier DC, Feenstra I, Bot P, de Leeuw N, Draaisma JM

Eur J Med Genet. 2013 Aug; 56(8):426-31.

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GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T

J Med Genet. 2013 Aug; 50(8):507-14.

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An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.
Anneke T. Vulto-van Silfhout, Conny M.A. van Ravenswaaij, Jayne Y. Hehir-Kwa, Eugène T.P. Verwiel, Rita Dirks, Steven van Vooren, Albert Schinzel, Bert B.A. de Vries, Nicole de Leeuw

Eur J Med Genet. 2013 Aug; 56(9):471–474.

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A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3).
Ockeloen CW, Cobben JM, Marcelis CL, Koolen DA.

Clin Dysmorphol. 2013 Jul; 22(3):106-8.

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More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.
Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM

Mol Syndromol. 2013 Jun;4(5):235-45.

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Mutations in ANTXR1 Cause GAPO Syndrome.
Stranecky V, Hoischen A, Hartmannova H, Zaki MS, Chaudhary A, Zudaire E, Noskova L, Baresova V, Pristoupilova A, Hodanova K, Sovova J, Hulkova H, Piherova L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martasek P, Baxova A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S

Am J Hum Genet. 2013 May 2;92(5):792-9.

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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L

Hum Mol Genet. 2013 May 15;22(10):1960-70.

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Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.
Mundhofir FE, Nillesen WM, Van Bon BW, Smeets D, Pfundt R, van de Ven-Schobers G, Ruiterkamp-Versteeg M, Winarni TI, Hamel BC, Yntema HG, Faradz SM

Indian J Hum Genet. 2013 Apr;19(2):171-8.

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Mutations in MED12 Cause X-Linked Ohdo Syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP

Am J Hum Genet. 2013 Mar 7;92(3):401-6.

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Soto syndrome: a rare overgrowth disorder.
de Silva DC, de Leeuw N, Gunasekera R

Ceylon Med J. 2013 Mar;58(1):40-2.

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Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.
Kuipers BC, Vulto-van Silfhout AT, Marcelis C, Pfundt R, de Leeuw N, de Vries BB

Clin Dysmorphol. 2013 Jan;22(1):18-21.

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Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N

Am J Med Genet A. 2013 Jan;161A(1):158-61.

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Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder.
de Crecchio G, Cennamo G, de Leeuw N, Ventruto ML, Lonardo MC, Friso P, Ventruto V

Ophthalmic Genet. 2013 Jan 30. [Epub ahead of print] .

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Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes.
Dul EC, van Echten-Arends J, Groen H, Dijkhuizen T, Land JA, van Ravenswaaij-Arts CM.

Hum Reprod. 2012 Sep;27(9):2850-6.

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Mutation update on the CHD7 gene involved in CHARGE syndrome.
Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.

Hum Mutat. 2012 Aug;33(8):1149-60.

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ.

Eur J Hum Genet. 2012 Jul;20(7):729-33.

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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.

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Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.
Faas BH, Feenstra I, Eggink AJ, Kooper AJ, Pfundt R, van Vugt JM, de Leeuw N.

Prenat Diagn. 2012 Apr;32(4):362-70.

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Update on Kleefstra Syndrome.
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, et al.

Mol Syndromol. 2012 Apr;2(3-5):202-212.

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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, et al.

Eur J Hum Genet. 2012 Feb;20(2):166-70.

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Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM.

Eur J Hum Genet. 2012 Feb;20(2):161-5.

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Diagnostic interpretation of array data using public databases and internet sources.
de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CM, Scherer SW, Shams S, Van Vooren S, Sijmons R, Swertz M, Hastings R.

Hum Mutat. 2012 Feb 14.

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De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Hehir, J.Y., Rodriguez-Santiago, B., Vissers, L.E.L.M., Leeuw, N. de, Pfundt, R., Buitelaar, J.K., Perez-Jurado, L.A. & Veltman, J.A.

J Med Genet. 2011 Nov;48(11):776-8.

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Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Feenstra, I., Hanemaaijer, N., Sikkema-Raddatz, B., Yntema, H., Dijkhuizen, T., Lugtenberg, D., Verheij, J., Green, A., Hordijk, R., Reardon, W., Vries, B. de, Brunner, H., Bongers, E., Leeuw, N. de & van Ravenswaaij-Arts, C.

Eur J Hum Genet. 2011 Nov;19(11):1152-60.

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Clinical utility gene card for: CHARGE syndrome.
Blake, K., Ravenswaaij-Arts, C.M.A. van, Hoefsloot, L.H. & Verloes, A.

Eur J Hum Genet. 2011 Sep;19(9).

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SNP array analysis in constitutional and cancer genome diagnostics-copy number variants, genotyping and quality control.
Leeuw, N. de, Hehir-Kwa, J.Y., Simons, A., Geurts van Kessel, A.H.M., Smeets, D.F., Faas, B.H.W. & Pfundt, R.

Cytogenetic and Genome Research. 2011 135(3-4):212-21

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The phenotype of recurrent 10q22q23 deletions and duplications.
Bon, B.W. van, Balciuniene, J., Fruhman, G., Nagamani, S.C., Broome, D.L., Cameron, E., Martinet, D., Roulet, E., et al.

Eur J Hum Genet. 2011 Apr;19(4):400-8

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Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
Willemsen, M.H., de Leeuw, N., Mercer, C., Eisenhauer, H., Morris, J., Collinson, M.N., Barber, J.C., Lam, S.T., Lo, I.F., Rensen, H., Ferwerda, A., Hamel, B.C.J. & Kleefstra, T.

Am J Med Genet Part A. 2011 Jan;155A(1):106-12

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Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.
Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM.

Am J Med Genet. 2010 Sep;152A(9):2221-9

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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

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Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome.
Ockeloen CW, de Leeuw N, Mieloo H, Reijnen IG, de Vries BB.

Clin Dysmorphol. 2010 Jul;19(3):137-9

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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, et al.

J Med Genet. 2010 May;47(5):299-311

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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. 2010 Apr 22;6(4):e1000752.

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X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
Gijsbers ACJ, den Hollander NS, Helderman-van de Enden ATJM, Schuurs-Hoeijmakers JHM, Vijfhuizen L, Bijlsma EK, van Haeringen A, Hansson KBM, Bakker E, Breuning MH, Ruivenkamp CAL.

Clin Genet. 2010 Mar 31. [Epub ahead of print]

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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, Novara F, Pramparo T, et al.

Eur J Hum Genet. 2010 Feb;18(2):163-70. Epub 2009 Oct 7.

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Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.
Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H.

Am J Med Genet A. 2010 Feb;152A(2):441-6.

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, et al.

J Med Genet. 2009 Aug;46(8):511-23. Epub 2009 Apr 15.

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Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.
Schuurs-Hoeijmakers JH, Vermeer S, van Bon BW, Pfundt R, Marcelis C, de Brouwer AP, de Leeuw N, de Vries BB.

J Med Genet. 2009 Jun;46(6):421-3.

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Emerging microdeletion and microduplication syndromes; the counseling paradigm.
van Ravenswaaij-Arts CM, Kleefstra T.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):75-6. Epub 2009 Mar 24.

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Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.
Koolen DA, Pfundt R, De Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, Geurts van Kessel A, Veltman JA and De Vries BBA.

Hum Mutat. 2009 Mar;30(3):283-92.

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LELM, et al.

J Med Genet. 2008 Nov;45(11):710-20.

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, et al.

N Engl J Med. 2008 Oct;359(16):1685-99.

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/ hypogenesis.
Van Bon BWM, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, et al.

J Med Genet. 2008 Jun;45(6):364-354.

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Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.
Van Bon BWM, Koolen DA, Pfundt R, Van der Burgt I, De Leeuw N and De Vries BBA .

Am J Med Genet A. 2008 May;146A(9):1225-9.

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Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Koolen DA, Sistermans EA, Nilessen W, Knight SJ, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BB.

Eur J Hum Genet. 2008 Mar;16(3):395-400.

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A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.
De Leeuw N, Pfundt R, Koolen DA, Neefs I, Scheltinga I, Mieloo H, Sistermans EA, Nillesen W, Smeets DF, De Vries BBA and Knoers NVAM.

J Med Genet. 2008 Feb;45(2):122-124.

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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.
Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A.

Eur J Med Genet. 2006 Jul-Aug;49(4):279-91.

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