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Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPsPreprint

Park, S. S., Stankiewicz, P., Bi, W., Shaw, C. J., Lehoczky, J. A., Dewar, K., Birren, B. W., & Lupski, J. R. (2002) · Genome Research · doi:10.1101/gr.82802 · Cited by 126 · see citing works

Emerging themes and new challenges in defining the role of structural variation in human disease

Sharp, A. J. (2008) · Human Mutation · doi:10.1002/humu.20843 · Cited by 125 · see citing works

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23

Hirota, H., Matsuoka, R., Chen, X.-N., Salandanan, L. S., Lincoln, A., Rose, F. E., Sunahara, M., Osawa, M., Bellugi, U., & Korenberg, J. R. (2003) · Genetics in Medicine · doi:10.1097/01.gim.0000076975.10224.67 · Cited by 123 · see citing works

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture

Mehan, M. R., Freimer, N. B., & Ophoff, R. A. (2004) · Human Genomics · doi:10.1186/1479-7364-1-5-335 · Cited by 121 · see citing works

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

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Analysis of Segmental Duplications and Genome Assembly in the MousePreprint

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A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

Ashe, A., Morgan, D. K., Whitelaw, N. C., Bruxner, T. J., Vickaryous, N. K., Cox, L. L., Butterfield, N. C., Wicking, C., Blewitt, M. E., Wilkins, S. J., et al. (2008) · Genome Biology · doi:10.1186/gb-2008-9-12-r182 · Cited by 117 · see citing works

Attentional Characteristics of Infants and Toddlers With Williams Syndrome During Triadic Interactions

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An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., González, P. J., Manghi, E. R., Bondy, P., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.044537 · Cited by 113 · see citing works

Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons

Kehrer‐Sawatzki, H., & Cooper, D. N. (2006) · Human Mutation · doi:10.1002/humu.20420 · Cited by 112 · see citing works

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Ferrero, G. B., Howald, C., Micale, L., Biamino, E., Augello, B., Fusco, C., Turturo, M. G., Forzano, S., Reymond, A., & Merla, G. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.108 · Cited by 110 · see citing works

Cognitive Heterogeneity in Williams Syndrome

Porter, M. A., & Coltheart, M. (2005) · Developmental Neuropsychology · doi:10.1207/s15326942dn2702_5 · Cited by 109 · see citing works

LIMK1 and CLIP‐115: linking cytoskeletal defects to Williams syndrome

Hoogenraad, C. C., Akhmanova, A. S., Galjart, N., & Zeeuw, C. I. D. (2004) · BioEssays · doi:10.1002/bies.10402 · Cited by 107 · see citing works

Exploring Williams–Beuren syndrome using myGrid

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

Emanuel, B. S., & Saitta, S. C. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2136 · Cited by 101 · see citing works

Recurrence risk in de novo structural chromosomal rearrangements

Röthlisberger, B., & Kotzot, D. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31826 · Cited by 99 · see citing works

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Antonacci, F., Kidd, J. M., Marquès‐Bonet, T., Teague, B. P., Ventura, M., Girirajan, S., Alkan, C., Campbell, C. D., Vives, L., Malig, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.643 · Cited by 99 · see citing works

Inversion variants in the human genome: role in disease and genome architecture

Feuk, L. (2010) · Genome Medicine · doi:10.1186/gm132 · Cited by 96 · see citing works

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Aldred, M. A., Sanford, R. O. C., Thomas, N. S., Barrow, M. A., Wilson, L. C., Brueton, L. A., Bonaglia, M. C., Hennekam, R. C. M., Eng, C., Dennis, N. R., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017202 · Cited by 92 · see citing works

Evidence for large inversion polymorphisms in the human genome from HapMap dataPreprint

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Characterizing polymorphic inversions in human genomes by single-cell sequencingPreprint

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Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach

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Investigation of Inversion Polymorphisms in the Human Genome Using Principal Components Analysis

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The involvement of non-B DNA structures in gross chromosomal rearrangements

Bacolla, A., Wojciechowska, M., Kośmider, B., Larson, J. E., & Wells, R. D. (2006) · DNA repair · doi:10.1016/j.dnarep.2006.05.032 · Cited by 88 · see citing works

The genetics of mental retardation

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Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

Hobart, H. H., Morris, C. A., Mervis, C. Β., Pani, A. M., Kistler, D. J., Rios, C. M., Kimberley, K. W., Gregg, R. G., & Bray‐Ward, P. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30258 · Cited by 83 · see citing works

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

Estivill, X. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.17.1987 · Cited by 81 · see citing works

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

Gagliardi, C., Bonaglia, M. C., Selicorni, A., Borgatti, R., & Giorda, R. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.526 · Cited by 77 · see citing works

Copy number variation in the genome; the human DMD gene as an example

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A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

Leal, G. F., Roberts, E., Silva, E. O., Costa, S. M. R., Hampshire, D. J., & Woods, C. G. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.540 · Cited by 78 · see citing works

CNV and nervous system diseases – what’s new?

Gu, W., & Lupski, J. R. (2008) · Cytogenetic and Genome Research · doi:10.1159/000184692 · Cited by 79 · see citing works

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

Merla, G., Howald, C., Antonarakis, S. E., & Reymond, A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh163 · Cited by 77 · see citing works

Recurrent inversion toggling and great ape genome evolution

Porubsky, D., Sanders, A. D., Höps, W., Hsieh, P., Sulovari, A., Li, R., Mercuri, L., Sorensen, M., Murali, S. C., Gordon, D., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0646-x · Cited by 72 · see citing works

Introduction: Williams syndrome

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Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Coughlin, C. R., Scharer, G. H., & Shaikh, T. H. (2012) · Genome Medicine · doi:10.1186/gm381 · Cited by 74 · see citing works

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23Preprint

Antonell, A., de Luis, O., Domingo‐Roura, X., & Jurado, L. A. P. (2005) · Genome Research · doi:10.1101/gr.3944605 · Cited by 71 · see citing works

A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: Possible involvement in the genesis of the Philadelphia chromosome translocation

Saglio, G. N., Storlazzi, C. T., Giugliano, E., Surace, C., Anelli, L., Rege‐Cambrin, G., Zagaria, A., Jiménez‐Velasco, A., Heiniger, A., Scaravaglio, P., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.152171299 · Cited by 72 · see citing works

Williams syndrome: Pediatric, neurologic, and cognitive development

Carrasco, X., Castillo, S., Aravena, T., Paula Rothhammer, A., & Aboitiz, F. (2005) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2004.09.013 · Cited by 69 · see citing works

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletionPreprint

Cuscó, I., Corominas, R., Bayés, M., Flores, R., Rivera‐Bruguès, N., Campuzano, V., & Jurado, L. A. P. (2008) · Genome Research · doi:10.1101/gr.073197.107 · Cited by 69 · see citing works

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Delio, M., Guo, T., McDonald‐McGinn, D. M., Zackai, E. H., Herman, S. B., Kaminetzky, M., Higgins, A. M., Coleman, K. B., Chow, C. C., Jarlbrzkowski, M., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.01.018 · Cited by 64 · see citing works

Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

Heller, R., Rauch, A. M., Lüttgen, S., Schröder, B., & Winterpacht, A. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.8.e99 · Cited by 63 · see citing works

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

Scherer, S. W., Gripp, K. W., Lucena, J., Nicholson, L., Bonnefont, J., Jurado, L. A. P., & Osborne, L. R. (2005) · Human Genetics · doi:10.1007/s00439-005-1325-9 · Cited by 62 · see citing works

InvFEST, a database integrating information of polymorphic inversions in the human genome

Martinez‐Fundichely, A., Casillas, S., Egea, R., Ràmia, M., Barbadilla, A., Pantano, L., Puig, M., & Cáceres, M. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1122 · Cited by 62 · see citing works

Williams Syndrome: 15 Years of Psychological Research

Mervis, C. Β. (2003) · Developmental Neuropsychology · doi:10.1080/87565641.2003.9651884 · Cited by 59 · see citing works

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

Scherer, S. W., Gripp, K. W., Lucena, J., Nicholson, L., Bonnefont, J., Jurado, L. A. P., & Osborne, L. R. (2005) · Human Genetics · doi:10.1007/s00439-005-1325-9 · Cited by 62 · see citing works

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

Frohnauer, J., Caliebe, A., Gesk, S., Partsch, C., Siebert, R., Pankau, R., & Jenderny, J. (2010) · Molecular Cytogenetics · doi:10.1186/1755-8166-3-21 · Cited by 3 · see citing works

Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil

Loaiza Medina, J. D. (2014) · Americanae (AECID Library)

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

Bayés, M., Magano, L. F., Rivera, N. F., Flores, R., & Jurado, L. A. P. (2003) · The American Journal of Human Genetics · doi:10.1086/376565 · Cited by 337 · see citing works

Molekularzytogenetische Analysen zur Bedeutung des Inversionspolymorphismus in der Chromosomenregion 7q11.23 für die Entstehung des Williams-Beuren-Syndroms.

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