Diagnostic genome profiling in mental retardation

de Vries, Bert B.A.; Pfundt, Rolph; Leisink, Martijn; Koolen, David A.; Vissers, Lisenka E.L.M.; Janssen, Irene M.; Reijmersdal, Simon van; Nillesen, Willy M.; Huys, Erik H.L.P.G.; Leeuw, Nicole de; Smeets, Dominique; Sistermans, Erik A.; Feuth, Ton; van Ravenswaaij-Arts, Conny M.A.; van Kessel, Ad Geurts; Schoenmakers, Eric F.P.M.; Brunner, Han G.; Veltman, Joris A.

doi:10.1086/491719

Cited by 605Genomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesDown syndrome and intellectual disability research

Diagnostic genome profiling in mental retardation

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de Vries, Bert B.A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E.L.M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M. +10 more·2005·The American Journal of Human Genetics

DOI 10.1086/491719PMC PMC1275609

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Abstract

Mental retardation (MR) occurs in 2%-3% of the general population. Conventional karyotyping has a resolution of 5-10 million bases and detects chromosomal alterations in approximately 5% of individuals with unexplained MR. The frequency of smaller submicroscopic chromosomal alterations in these patients is unknown. Novel molecular karyotyping methods, such as array-based comparative genomic hybridization (array CGH), can detect submicroscopic chromosome alterations at a resolution of 100 kb. In this study, 100 patients with unexplained MR were analyzed using array CGH for DNA copy-number changes by use of a novel tiling-resolution genomewide microarray containing 32,447 bacterial artificial clones. Alterations were validated by fluorescence in situ hybridization and/or multiplex ligation-dependent probe amplification, and parents were tested to determine de novo occurrence. Reproducible DNA copy-number changes were present in 97% of patients. The majority of these alterations were inherited from phenotypically normal parents, which reflects normal large-scale copy-number variation. In 10% of the patients, de novo alterations considered to be clinically relevant were found: seven deletions and three duplications. These alterations varied in size from 540 kb to 12 Mb and were scattered throughout the genome. Our results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping.

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Large de novo copy number variants are significantly enriched among ASD/ID probands compared with unaffected siblings or controls.
“By contrast, targeted and genome-wide microarray studies revealed that large de novo copy number variants (CNVs) were significantly enriched among probands when compared to unaffected siblings and/or controls [8–14]”
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High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization
Veltman, J. A., Schoenmakers, E., Eussen, B. H. J., Janssen, I. M., Merkx, G. F. M., van Cleef, B., van Ravenswaaij‐Arts, C. M. A., Brunner, H. G., Smeets, D., & van Kessel, A. G. (2002) · The American Journal of Human Genetics · doi:10.1086/340426 · Cited by 214 · see citing works
Self-citation
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
Schoumans, J., Ruivenkamp, C., Holmberg, E., Kyllerman, M., Anderlid, B.-M., & Nordenskjöld, M. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.029637 · Cited by 205 · see citing works
Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase
Oberstein, S. A. J. L., Kriek, M., White, S. J., Kalf, M. E., Szuhai, K., den Dunnen, J. T., Breuning, M. H., & Hennekam, R. C. M. (2006) · The American Journal of Human Genetics · doi:10.1086/507567 · Cited by 204 · see citing works
Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences
Magenis, R. E., Toth‐Fejel, S., Allen, L., Black, M. H., Brown, M. G., Budden, S. S., Cohen, R., Friedman, J. M., Kalousek, D. K., Zonana, J., et al. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320350307 · Cited by 198 · see citing works
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Bruder, C. E. G. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.3.271 · Cited by 168 · see citing works
Identification of disease genes by whole genome CGH arrays
Vissers, L. E. L. M., Veltman, J. A., van Kessel, A. G., & Brunner, H. G. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi268 · Cited by 167 · see citing works
Self-citation
Comparative study of methyl-CpG-binding domain proteins
Roloff, T. C., Ropers, H., & Nuber, U. A. (2003) · BMC Genomics · doi:10.1186/1471-2164-4-1 · Cited by 163 · see citing works
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
Koolen, D. A., Nillesen, W. M., Versteeg, M. H. A., Merkx, G. F. M., Knoers, N. V. A. M., Kets, M., Vermeer, S., van Ravenswaaij‐Arts, C. M. A., de Kovel, C. G. F., Brunner, H. G., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.023671 · Cited by 161 · see citing works
Self-citation
Molecular-evolutionary mechanisms for genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(02)00304-0 · Cited by 159 · see citing works
Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis
Vermeesch, J. R., Melotte, C., Froyen, G., Vooren, S. V., Dutta, B., Maas, N. M. C., Vermeulen, S. J. T., Menten, B., Speleman, F., Moor, B. D., et al. (2005) · Journal of Histochemistry & Cytochemistry · doi:10.1369/jhc.4a6436.2005 · Cited by 154 · see citing works
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
Buckley, P. G. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.25.3221 · Cited by 145 · see citing works
Reported biomedical causes and associated medical conditions for mental retardation among 10‐year‐old children, metropolitan Atlanta, 1985 to 1987
Yeargin‐Allxopp, M., Murphy, C. C., Cordrro, J. F., et al. (1997) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1997.tb07401.x · Cited by 139 · see citing works
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
Flint, J., & Knight, S. J. L. (2003) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(03)00049-2 · Cited by 137 · see citing works
A cytogeneticist's perspective on genomic microarrays
Shaffer, L. G. (2004) · Human Reproduction Update · doi:10.1093/humupd/dmh022 · Cited by 135 · see citing works
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Yu, W. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg230 · Cited by 135 · see citing works
Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion
Visser, R., Shimokawa, O., Harada, N., Kinoshita, A., Ohta, T., Niikawa, N., & Matsumoto, N. (2004) · The American Journal of Human Genetics · doi:10.1086/426950 · Cited by 129 · see citing works
Prediction of the Coding Sequences of Unidentified Human Genes. XVII. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro
Nagase, T., Kikuno, R. F., Ishikawa, K.-I., et al. (2000) · DNA Research · doi:10.1093/dnares/7.2.143 · Cited by 127 · see citing works
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
Krepischi, A. C. V., Vianna‐Morgante, A. M., Jehee, F. S., Passos‐Bueno, M. R., Knijnenburg, J., Szuhai, K., Sloos, W. C. R., Mazzeu, J. F., Kok, F., Cheroki, C., et al. (2006) · Cytogenetic and Genome Research · doi:10.1159/000095922 · Cited by 126 · see citing works
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
Buggenhout, G. V., Melotte, C., Dutta, B., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.016865 · Cited by 125 · see citing works
A set of BAC clones spanning the human genome
Krzywinski, M. I. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh700 · Cited by 125 · see citing works
Clinical, cytogenetic and molecular characterization of seven patients with deletions of chromosome 22q13.3
Nesslinger, N. J. (1993) · PubMed · doi:10.7939/r35x25m4j · Cited by 124 · see citing works
Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH
Veltman, J. A., Versleijen‐Jonkers, Y. M. H., Nuijten, I., Janssen, I. M., van der Vliet, W., Huys, E., Vermeesch, J. R., Buggenhout, G. V., Fryns, J., Admiraal, R. J. C., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375695 · Cited by 115 · see citing works
Self-citation
High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs
Slater, H. R., Bailey, D. K., Ren, H., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/497343 · Cited by 108 · see citing works
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH
Tyson, C., Harvard, C., Locker, R., Friedman, J. M., Langlois, S., Lewis, M. E. S., Allen, M. I. V., Somerville, M. J., Arbour, L. T., Clarke, L. A., et al. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31015 · Cited by 107 · see citing works
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams–Beuren syndrome regions
Kirchhoff, M., Bisgaard, A., Bryndorf, T., & Gerdes, T. (2006) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2006.10.002 · Cited by 106 · see citing works
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
Rooms, L., Reyniers, E., van Luijk, R., et al. (2003) · Human Mutation · doi:10.1002/humu.10300 · Cited by 104 · see citing works
The chromosome number in man
Chaudhuri, A., & Chaudhuri, K. C. (1963) · The Indian Journal of Pediatrics · doi:10.1007/bf02748179 · Cited by 103 · see citing works
Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
Solomon, N. M., Ross, S. A., Forrest, S. M., Thomas, P. Q., Morgan, T. M., Belsky, J. L., Hol, F. A., Karnes, P. S., Hopwood, N. J., Myers, S. E., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.049049 · Cited by 102 · see citing works
BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications
Locke, D. P., Segraves, R., Nicholls, R. D., Schwartz, S., Pinkel, D., Albertson, D. G., & Eichler, E. E. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.013813 · Cited by 101 · see citing works
The end of the beginning of chromosome ends†
Biesecker, L. G. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10160 · Cited by 96 · see citing works
Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals
Casas, K. A., Mononen, T. K., Mikail, C. N., Hassed, S. J., Li, S., Mulvihill, J. J., Lin, H. J., & Falk, R. E. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30156 · Cited by 92 · see citing works
Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array
Zhou, X. C., Mok, S. C., Chen, Z., Li, Y., & Wong, D. W. (2004) · Human Genetics · doi:10.1007/s00439-004-1163-1 · Cited by 92 · see citing works
Historical prospective of human cytogenetics: from microscope to microarray
Smeets, D. (2004) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2004.03.006 · Cited by 91 · see citing works
Self-citation
The genetics of mental retardation
Raymond, F. L., & Tarpey, P. S. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl189 · Cited by 88 · see citing works
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye
Böhm, D., Herold, S., Kuechler, A., Liehr, T., & Laccone, F. A. (2004) · Human Mutation · doi:10.1002/humu.20011 · Cited by 86 · see citing works
ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation
Lugtenberg, D., Yntema, H. G., Banning, M. J. G., Oudakker, A. R., Firth, H. V., Willatt, L. R., Raynaud, M., Kleefstra, T., Fryns, J., Ropers, H., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/500306 · Cited by 86 · see citing works
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
Shaw, C. A., Shaw, C. A., Yu, W., Stankiewicz, P., White, L. D., Beaudet, A. L., & Lupski, J. R. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.012831 · Cited by 77 · see citing works
Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
Stewart, D. R., Huang, A., Faravelli, F., Anderlid, B., Medne, L., Ciprero, K. L., Kaur, M., Rossi, E. G., Tenconi, R., Nordenskjöld, M., et al. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30136 · Cited by 75 · see citing works
Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay
Sismani, C., Armour, J. A. L., Jonathan Flint, C., Girgalli, C., Regan, R., & Patsalis, P. C. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200670 · Cited by 72 · see citing works
BAC array CGH reveals genomic aberrations in idiopathic mental retardation
Miyake, N., Shimokawa, O., Harada, N., Sosonkina, N., Okubo, A., Kawara, H., Okamoto, N., Kurosawa, K., Kawame, H., Iwakoshi, M., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31098 · Cited by 65 · see citing works
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
Vries, B. B. A. D., KNIGHT, S. J. L., HOMFRAY, T., et al. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.3.175 · Cited by 64 · see citing works
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation
Harada, N., Hatchwell, E., Okamoto, N., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.014639 · Cited by 55 · see citing works
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
Veltman, J. A., Yntema, H. G., Lugtenberg, D., Arts, H., Briault, S., Huys, E. H. L. P. G., Osoegawa, K., de Jong, P., Brunner, H. G., van Kessel, A. G., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.018531 · Cited by 51 · see citing works
Self-citation
X chromosome array-CGH for the identification of novel X-linked mental retardation genes
Bauters, M., Esch, H. V., Marynen, P., & Froyen, G. (2005) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2005.04.008 · Cited by 47 · see citing works
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
Silfhout, A. T. V., van Ravenswaaij‐Arts, C. M. A., Hehir‐Kwa, J. Y., Verwiel, E. T. P., Dirks, R., Vooren, S. V., Schinzel, A., Vries, B. B. A. D., & de Leeuw, N. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.06.010 · Cited by 43 · see citing works
Self-citation
The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia
Lu, X., Harris, C., Cooley, L. D., et al. (2002) · Leukemia · doi:10.1038/sj.leu.2402662 · Cited by 38 · see citing works
The outcome of diagnostic studies on the etiology of mental retardation: Considerations on the classification of the causes
Moog, U. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30841 · Cited by 37 · see citing works
A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array‐based comparative genomic hybridization
Koolen, D. A., Vissers, L., Nillesen, W. M., Smeets, D., van Ravenswaaij‐Arts, C. M. A., Sistermans, E. A., Veltman, J. A., & Vries, B. B. A. D. (2004) · Clinical Genetics · doi:10.1111/j.0009-9163.2004.00245.x · Cited by 22 · see citing works
Self-citation
Chromosomal aberrations, subtelomeric defects, and mental retardation
Baralle, D. (2001) · The Lancet · doi:10.1016/s0140-6736(00)05300-9 · Cited by 19 · see citing works
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray
Ekong, R., Jeremiah, S., Judah, D. J., et al. (2004) · Human Mutation · doi:10.1002/humu.20059 · Cited by 18 · see citing works
Cytogenetics — In Color and Digitized
Ried, T. (2004) · New England Journal of Medicine · doi:10.1056/nejmp038242 · Cited by 18 · see citing works
A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation
Ruiter, M., Koolen, D. A., Pfundt, R., de Leeuw, N., Klinkers, H. M. J., Sistermans, E. A., Veltman, J. A., & Vries, B. B. A. D. (2006) · Clinical Dysmorphology · doi:10.1097/01.mcd.0000220605.94413.bb · Cited by 13 · see citing works
Self-citation
The use of genomic microarrays to study chromosomal abnormalities in mental retardation
Mao, R., & Pevsner, J. (2005) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20082 · Cited by 11 · see citing works

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Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works
Genome structural variation discovery and genotyping
Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630 · see citing works
A copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351 · see citing works
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207 · see citing works
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125 · see citing works
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A copy number variation map of the human genome
Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3871 · Cited by 921 · see citing works
A de novo paradigm for mental retardation.
Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.712 · Cited by 852 · see citing works
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works
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Genetic studies in intellectual disability and related disorders
Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761 · see citing works
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Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · see citing works
Copy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · see citing works
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics · doi:10.1038/ng1862 · Cited by 658 · see citing works
Population analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591 · see citing works
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582 · see citing works
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474 · see citing works
A de novo convergence of autism genetics and molecular neuroscience
Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423 · see citing works
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
Lee, C., Iafrate, A. J., & Brothman, A. R. (2007) · Nature Genetics · doi:10.1038/ng2092 · Cited by 388 · see citing works
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm323 · Cited by 377 · see citing works
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Coe, B. P., Stessman, H. A. F., Sulovari, A., Geisheker, M. R., Bakken, T. E., Lake, A. M., Dougherty, J. D., Lein, E. S., Hormozdiari, F., Bernier, R. A., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0288-4 · Cited by 330 · see citing works
De novo rates and selection of large copy number variation
Itsara, A., Wu, H., Smith, J. D., Nickerson, D. A., Romieu, I., London, S. J., & Eichler, E. E. (2010) · Genome Research · doi:10.1101/gr.107680.110 · Cited by 328 · see citing works
Genomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329 · see citing works
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.011 · Cited by 249 · see citing works
Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics
Bejjani, B. A., & Shaffer, L. G. (2006) · The Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2006.060029 · Cited by 173 · see citing works
Delineation of 15q13.3 microdeletions.
Masurel‐Paulet, A., Andrieux, J., Callier, P., Cuisset, J., Le Caignec, C., Holder, M., Thauvin‐Robinet, C., Doray, B., Flori, E., Alex‐Cordier, M., et al. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01374.x · Cited by 145 · see citing works
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., et al. (2010) · Human Mutation · doi:10.1002/humu.21362 · Cited by 140 · see citing works
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research · doi:10.1101/gr.094987.109 · Cited by 132 · see citing works
Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness
Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A. R., Jakobsen, K. D., Kristinsson, K. T., le Roux, L., Gustafsson, O., Craddock, N., et al. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.09111660 · Cited by 114 · see citing works
Genetic Evaluation of Intellectual Disabilities
Moeschler, J. B. (2008) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2008.01.002 · Cited by 87 · see citing works
Genetics of Autism Spectrum Disorders
Rutter, M., & Thapar, A. (2014) · Handbook of Autism and Pervasive Developmental Disorders, Fourth Edition · doi:10.1002/9781118911389.hautc17 · Cited by 31 · see citing works
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Authors: de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., Smeets, D., Sistermans, E. A., Feuth, T., van Ravenswaaij-Arts, C. M. A., van Kessel, A. G., Schoenmakers, E. F. P. M., Brunner, H. G., & Veltman, J. A.
Affiliations: Radboud University Medical Center (NL)
ORCID: Pfundt, Rolph
Koolen, David A.
Vissers, Lisenka E.L.M.
Leeuw, Nicole de
Smeets, Dominique
Sistermans, Erik A.
Brunner, Han G.
Veltman, Joris A.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2005-10
Volume: 77
Issue: 4
Pages: 606-616
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/491719
PMC: PMC1275609
OpenAlex: W2155677754
Cited by: 605
References: 132
Citations by year: 2025: 2 · 2024: 10 · 2023: 6 · 2022: 7 · 2021: 9 · 2020: 7 · 2019: 15 · 2018: 10 · 2017: 15 · 2016: 17 · 2015: 27 · 2014: 15 · 2013: 19 · 2012: 34
FWCI: 37.57
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2848 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Pure Amsterdam UMC (publishedVersion, other-oa)
Radboud Repository (Radboud University) (submittedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords: intellectual disability, copy number variation, array comparative genomic hybridization, tiling microarrays, deletions and duplications, diagnostic yield
MeSH terms: Adolescent, Adult, Child, Female, Humans, Karyotyping, Male, Intellectual Disability, Nucleic Acid Hybridization, Genome, Human, Gene Expression Profiling

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