Structural Variation in the Human Genome and its Role in Disease

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works

α-Synuclein Locus Triplication Causes Parkinson's Disease

Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., et al. (2003) · Science · doi:10.1126/science.1090278 · Cited by 4,383 · see citing works

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,276 · see citing works

Identification and characterization of a spinal muscular atrophy-determining gene

Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Bénichou, B., Cruaud, C., Millasseau, P., Zeviani, M., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90460-3 · Cited by 3,995 · see citing works

Detection of large-scale variation in the human genome

Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892 · see citing works

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works

Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557 · see citing works

α-synuclein locus duplication as a cause of familial Parkinson's disease

Chartier-Harlin, M.-C., Kachergus, J., Roumier, C., Mouroux, V., Douay, X., Lincoln, S., Levecque, C., Larvor, L., Andrieux, J., Hulihan, M., et al. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17103-1 · Cited by 2,029 · see citing works

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990 · see citing works

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970 · see citing works

Advances in autism genetics: on the threshold of a new neurobiology

Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · 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

Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments

Nathans, J., Thomas, D., & Hogness, D. S. (1986) · Science · doi:10.1126/science.2937147 · Cited by 1,732 · see citing works

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works

Rare chromosomal deletions and duplications increase risk of schizophrenia

The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature · doi:10.1038/nature07953 · Cited by 1,421 · see citing works

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Lupski, J. R., Montes‐de‐Oca‐Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Cárdenas, O. S., Barker, D. F., Killian, J. M., Garcia, C. A., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90613-4 · Cited by 1,327 · see citing works

Mechanisms of change in gene copy number

Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316 · see citing works

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,249 · see citing works

Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science · doi:10.1126/science.1149504 · Cited by 1,163 · see citing works

The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility

Gonzalez, E., Kulkarni, H. R., Bolivar, H., Mangano, A. M., Sanchez, R., Catano, G., Nibbs, R. J. B., Freedman, B. I., Quinones, M. P., Bamshad, M. J., et al. (2005) · Science · doi:10.1126/science.1101160 · Cited by 1,127 · see citing works

Mapping and sequencing of structural variation from eight human genomes

Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works

Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease

Ibáñez, P., Bonnet, A. M., Débarges, B., Lohmann, E., Tison, F., Agid, Y., Dürr, A., Brice, A., & Pollak, P. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17104-3 · Cited by 1,042 · see citing works

Segmental Duplications and Copy-Number Variation in the Human Genome

Sharp, A. J., Locke, D. P., McGrath, S. D., Cheng, Z., Bailey, J. A., Vallente, R. U., Pertz, L. M., Clark, R. A., Schwartz, S., Segraves, R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431652 · Cited by 973 · see citing works

Genome architecture, rearrangements and genomic disorders

Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 915 · see citing works

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Lee, J. A., Carvalho, C. M. B., & Lupski, J. R. (2007) · Cell · doi:10.1016/j.cell.2007.11.037 · Cited by 914 · see citing works

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908 · see citing works

Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease

Kleinjan, D. A., & van Heyningen, V. (2004) · The American Journal of Human Genetics · doi:10.1086/426833 · Cited by 868 · see citing works

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858 · see citing works

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

Hastings, P. J., Ira, G., & Lupski, J. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000327 · Cited by 818 · see citing works

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

Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

Polymeropoulos, M. H., Higgins, J. J., Golbe, L. I., Johnson, W. G., Ide, S. E., Di Iorio, G., Sanges, G., Stenroos, E. S., Pho, L. T., Schaffer, A. A., et al. (1996) · Science · doi:10.1126/science.274.5290.1197 · Cited by 788 · see citing works

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Lakich, D., Kazazian, H. H., Antonarakis, S. E., & Gitschier, J. M. (1993) · Nature Genetics · doi:10.1038/ng1193-236 · Cited by 786 · see citing works

Identifying autism loci and genes by tracing recent shared ancestry

Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science · doi:10.1126/science.1157657 · Cited by 737 · see citing works

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

Segmental Duplications: Organization and Impact Within the Current Human Genome Project AssemblyPreprint

Bailey, J. A., Yavor, A. M., Massa, H. F., Trask, B. J., & Eichler, E. E. (2001) · Genome Research · doi:10.1101/gr.187101 · Cited by 708 · see citing works

Mechanisms for human genomic rearrangements

Gu, W., Zhang, F., & Lupski, J. R. (2008) · PathoGenetics · doi:10.1186/1755-8417-1-4 · Cited by 708 · see citing works

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

Aitman, T. J., Dong, R., Vyse, T. J., Norsworthy, P. J., Johnson, M. D., Smith, J., Mangion, J., Roberton-Lowe, C., Marshall, A. J., Petretto, E. G., et al. (2006) · Nature · doi:10.1038/nature04489 · Cited by 666 · 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

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

McCarroll, S. A., Huett, A., Kuballa, P., Chilewski, S. D., Landry, A., Goyette, P., Zody, M. C., Hall, J. L., Brant, S. R., Cho, J. H., et al. (2008) · Nature Genetics · doi:10.1038/ng.215 · Cited by 655 · see citing works

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Esch, H. V., Bauters, M., Ignatius, J., Jansen, M., Raynaud, M., Hollanders, K., Lugtenberg, D., Bienvenu, T., Jensen, L. R., Gécz, J., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/444549 · Cited by 630 · see citing works

Psoriasis is associated with increased β-defensin genomic copy number

Hollox, E. J., Hüffmeier, U., Zeeuwen, P. L. J. M., Raquel, P., Lascorz, J., Rodijk‐Olthuis, D., van de Kerkhof, P. C. M., Traupe, H., de Jongh, G. J., den Heijer, M., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.48 · Cited by 630 · see citing works

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

Karayiorgou, M., Morris, M. A., Morrow, B., Shprintzen, R. J., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P. S., & Lasseter, V. K. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.17.7612 · Cited by 628 · see citing works

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981) · New England Journal of Medicine · doi:10.1056/nejm198102053040604 · Cited by 622 · see citing works

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

Lupski, J. R., & Stankiewicz, P. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010049 · Cited by 582 · 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

Disruption of neurexin 1 associated with autism spectrum disorder

Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.011 · Cited by 578 · see citing works

Segmental Duplications: Organization and Impact Within the Current Human Genome Project AssemblyPreprint

Bailey, J. A. (2001) · Genome Research · doi:10.1101/gr.gr-1871r · Cited by 573 · see citing works

A Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon

Fellermann, K., Stange, D. E., Schaeffeler, E., Schmalzl, H., Wehkamp, J., Bevins, C. L., Reinisch, W., Teml, A., Schwab, M. G., Lichter, P., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505915 · Cited by 565 · see citing works

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics · doi:10.1038/ng.292 · Cited by 551 · see citing works

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Stankiewicz, P., Sen, P., Bhatt, S., Storer, M. A., Xia, Z., Bejjani, B. A., Ou, Z., Wiszniewska, J., Driscoll, D. J., Bolivar, J., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.005 · Cited by 534 · see citing works

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Zhang, F., Khajavi, M., Connolly, A. M., Towne, C. F., Batish, S. D., & Lupski, J. R. (2009) · Nature Genetics · doi:10.1038/ng.399 · Cited by 531 · see citing works

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

Maraganore, D. M. (2006) · JAMA · doi:10.1001/jama.296.6.661 · Cited by 508 · see citing works

Disruption of the neurexin 1 gene is associated with schizophrenia

Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471 · see citing works

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

Fanciulli, M., Norsworthy, P. J., Petretto, E. G., Dong, R., Harper, L., Kamesh, L., Heward, J. M., Gough, S. C. L., de Smith, A. J., Blakemore, A. I. F., et al. (2007) · Nature Genetics · doi:10.1038/ng2046 · Cited by 464 · see citing works

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., de Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1853 · Cited by 458 · see citing works

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J. C., Lindgren, Distèche, C. M., Ra, P., Hofker, M. H., van Ommen, G. B., & Pearson, P. L. (1985) · PubMed · Cited by 453 · see citing works

A common molecular basis for rearrangement disorders on chromosome 22q11

Edelmann, L. J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.7.1157 · Cited by 452 · see citing works

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427 · see citing works

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Potocki, L., Bi, W., Treadwell‐Deering, D., Carvalho, C. M. B., Eifert, A., Friedman, E. M., Glaze, D. G., Krull, K. R., Lee, J. A., Lewis, R. A., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/512864 · Cited by 425 · see citing works

Genomic rearrangements and sporadic disease

Lupski, J. R. (2007) · Nature Genetics · doi:10.1038/ng2084 · Cited by 424 · see citing works

High frequencies of α-thalassaemia are the result of natural selection by malaria

Jonathan Flint, C., Hill, A. V. S., Bowden, D. K., Oppenheimer, S., Sill, P. R., Serjeantson, S. W., Bana-Koiri, J., Bhatia, K., Alpers, M. P., Boyce, A. J., et al. (1986) · Nature · doi:10.1038/321744a0 · Cited by 423 · see citing works

Psychotic Illness in Patients Diagnosed with Velo-Cardio-Facial Syndrome and Their Relatives

Pulver, A. E., Nestadt, G., Goldberg, R. B., Shprintzen, R. J., Lamacz, M., Wolyniec, P. S., Morrow, B. E., Karayiorgou, M., Antonarakis, S. E., Housman, D. E., et al. (1994) · The Journal of Nervous and Mental Disease · doi:10.1097/00005053-199408000-00010 · Cited by 421 · see citing works

Lamin B1 duplications cause autosomal dominant leukodystrophy

Padiath, Q. S., Saigoh, K., Schiffmann, R., Asahara, H., Yamada, T., Koeppen, A. H., Hogan, K. J., Ptáček, L. J., & Fu, Y. (2006) · Nature Genetics · doi:10.1038/ng1872 · Cited by 407 · see citing works

Contiguous gene syndromes: A component of recognizable syndromes

Schmickel, R. D. (1986) · The Journal of Pediatrics · doi:10.1016/s0022-3476(86)80377-8 · Cited by 407 · see citing works

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Chen, K., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A. C., Lee, C. C., & Lupski, J. R. (1997) · Nature Genetics · doi:10.1038/ng1097-154 · Cited by 387 · see citing works

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Ensenauer, R. E., Adeyinka, A., Flynn, H. C., Michels, V. V., Lindor, N. M., Dawson, D. B., Thorland, E. C., Lorentz, C. P., Goldstein, J., McDonald, M., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/378818 · Cited by 383 · 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

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Shaw-Smith, C. J., Pittman, A. M., Willatt, L. R., Martin, H., Rickman, L., Gribble, S. M., Curley, R., Cumming, S., Dunn, C. A., Kalaitzopoulos, D. R., et al. (2006) · Nature Genetics · doi:10.1038/ng1858 · Cited by 368 · see citing works

Mutations in RAI1 associated with Smith-Magenis syndrome

Slager, R. E., Newton, T. L., Vlangos, C. N., Finucane, B., & Elsea, S. H. (2003) · Nature Genetics · doi:10.1038/ng1126 · Cited by 362 · see citing works

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

van Bon, B. W. M., Mefford, H. C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W. M., Innis, J. W., de Ravel, T. J. L., Mercer, C. L., Fichera, M., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063412 · Cited by 356 · see citing works

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

Stankiewicz, P., & Beaudet, A. L. (2007) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2007.04.009 · Cited by 324 · see citing works

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Chance, P. F., Abbas, N., Lensch, M. W., Pentao, L., Roa, B. B., Patel, P. I., & Lupski, J. R. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.223 · Cited by 311 · see citing works

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

Ramocki, M. B., Peters, S. U., Tavyev, Y. J., Zhang, F., Carvalho, C. M. B., Schaaf, C. P., Richman, R., Fang, P., Glaze, D. G., Lupski, J. R., et al. (2009) · Annals of Neurology · doi:10.1002/ana.21715 · Cited by 302 · see citing works

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.009 · Cited by 299 · see citing works

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Reiter, L. T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D. M., Gibbs, R. A., & Lupski, J. R. (1996) · Nature Genetics · doi:10.1038/ng0396-288 · Cited by 295 · see citing works

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Cardoso, C., Leventer, R. J., Ward, H. L., Toyo‐oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J. E., Pilz, D. T., Olney, A. H., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/374320 · Cited by 289 · see citing works

Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders

Lee, J. A., & Lupski, J. R. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.027 · Cited by 289 · see citing works

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., Ledbetter, D. H., Greenberg, F., & Patel, P. I. (1992) · Nature Genetics · doi:10.1038/ng0492-29 · Cited by 281 · see citing works

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

Amos-Landgraf, J. M., Ji, Y., Gottlieb, W., Depinet, T. W., Wandstrat, A. E., Cassidy, S. B., Driscoll, D. J., Rogan, P. K., Schwartz, S., & Nicholls, R. D. (1999) · The American Journal of Human Genetics · doi:10.1086/302510 · Cited by 278 · see citing works

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

del Gaudio, D., Fang, P., Scaglia, F., Ward, P. A., Craigen, W. J., Glaze, D. G., Neul, J. L., Patel, A., Lee, J. A., Irons, M., et al. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000250502.28516.3c · Cited by 271 · see citing works

Complex human chromosomal and genomic rearrangements

Zhang, F., Carvalho, C. M. B., & Lupski, J. R. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.05.005 · Cited by 269 · see citing works

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Vrijenhoek, T., Buizer‐Voskamp, J. E., van der Stelt, I., Strengman, E., Sabatti, C., van Kessel, A. G., Brunner, H. G., Ophoff, R. A., & Veltman, J. A. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.011 · Cited by 265 · see citing works

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., Bick, D. P., Campbell, L., Hamel, B. C. J., Ferguson-Smith, M. A., Gimelli, G., & Fraccaro, M. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.24.10001 · Cited by 263 · see citing works

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261 · see citing works

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Cheung, S. W., Shaw, C. A., Yu, W., Li, J., Ou, Z., Patel, A., Yatsenko, S. A., Cooper, M. L., Furman, P., Stankiewicz, P., et al. (2005) · Genetics in Medicine · doi:10.1097/01.gim.0000170992.63691.32 · Cited by 248 · see citing works

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

Bolton, P. F., Dennis, N. R., Browne, C. E., Thomas, N. S., Veltman, M. W. M., Thompson, R. J., & Jacobs, P. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1551 · Cited by 246 · see citing works

The mechanism of non-homologous end-joining: a synopsis of synapsis

Weterings, E., & van Gent, D. C. (2004) · DNA repair · doi:10.1016/j.dnarep.2004.06.003 · Cited by 235 · see citing works

Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

Willcocks, L. C., Lyons, P., Clatworthy, M. R., Robinson, J. I., Yang, W., Newland, S. A., Plagnol, V., McGovern, N. N., Condliffe, A. M., Chilvers, E. R., et al. (2008) · The Journal of Experimental Medicine · doi:10.1084/jem.20072413 · Cited by 235 · see citing works

Increased LIS1 expression affects human and mouse brain development

Bi, W., Sapir, T., Shchelochkov, O. A., Zhang, F., Withers, M. A., Hunter, J. V., Levy, T., Shinder, V., Peiffer, D. A., Gunderson, K. L., et al. (2009) · Nature Genetics · doi:10.1038/ng.302 · Cited by 223 · see citing works

Genomic disorders ten years on

Lupski, J. R. (2009) · Genome Medicine · doi:10.1186/gm42 · Cited by 218 · see citing works

The functional impact of structural variation in humans

Hurles, M. E., Dermitzakis, E. T., & Tyler‐Smith, C. (2008) · Trends in Genetics · doi:10.1016/j.tig.2008.03.001 · Cited by 204 · see citing works

Hereditary pancreatitis caused by triplication of the trypsinogen locus

Maréchal, C. L., Masson, E., Chen, J., Morel, F., Ruszniewski, P. B., Lévy, P., & Férec, C. (2006) · Nature Genetics · doi:10.1038/ng1904 · Cited by 201 · see citing works

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Carvalho, C. M. B., Zhang, F., Liu, P., Patel, A., Sahoo, T., Bacino, C. A., Shaw, C. A., Peacock, S., Pursley, A. N., Tavyev, Y. J., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp151 · Cited by 199 · see citing works

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S.-H. L., Fong, C.-T., Salamone, J., Freedenberg, D., Hannig, V. L., Prock, L. A., Miller, D. T., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e3180986192 · Cited by 193 · see citing works

Human LineageSpecific Amplification, Selection, and Neuronal Expression of DUF1220 Domains

Popesco, M. C., MacLaren, E. J., Hopkins, J. A., Dumas, L., Cox, M., Meltesen, L., McGavran, L., Wyckoff, G. J., & Sikela, J. M. (2006) · Science · doi:10.1126/science.1127980 · Cited by 187 · see citing works

Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

Theuns, J., Brouwers, N., Engelborghs, S., Sleegers, K., Bogaerts, V., Corsmit, E., Pooter, T. D., van Duijn, C. M., Deyn, P. P. D., & Broeckhoven, C. V. (2006) · The American Journal of Human Genetics · doi:10.1086/504044 · Cited by 187 · see citing works

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Shinawi, M. S., Schaaf, C. P., Bhatt, S., Xia, Z., Patel, A., Cheung, S. W., Lanpher, B. C., Nagl, S., Herding, H. S., Nevinny-Stickel, C., et al. (2009) · Nature Genetics · doi:10.1038/ng.481 · Cited by 184 · see citing works

A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

Peoples, R., Franke, Y., Wang, Y.-K., Jurado, L. A. P., Paperna, T., Cisco, M. J., & Francke, U. (2000) · The American Journal of Human Genetics · doi:10.1086/302722 · Cited by 181 · see citing works

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M. S., Eng, C. M., Hunter, J. V., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.067637 · Cited by 173 · see citing works

On the Mechanism of Gene Amplification Induced under Stress in Escherichia coli

Slack, A., Thornton, P. C., Magner, D. B., Rosenberg, S. M., & Hastings, P. J. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020048 · Cited by 171 · see citing works

Structural Variation in the Human Genome

Lupski, J. R. (2007) · New England Journal of Medicine · doi:10.1056/nejmcibr067658 · Cited by 167 · see citing works

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

Yen, P. H., Li, X., Tsai, S., Johnson, C., Mohandas, T. K., & Shapiro, L. J. (1990) · Cell · doi:10.1016/0092-8674(90)90472-q · Cited by 165 · see citing works

De-novo mutation in hereditary motor and sensory neuropathy type I

Hoogendijk, J. E., Hensels, G. W., Janssen, E. A. M., et al. (1992) · The Lancet · doi:10.1016/0140-6736(92)90668-s · Cited by 165 · see citing works

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

Lu, X.-Y., Phung, M. T., Shaw, C. A., Pham, K., Neil‐Sztramko, S., Patel, A., Sahoo, T., Bacino, C. A., Stankiewicz, P., Kang, S.-H. L., et al. (2008) · PEDIATRICS · doi:10.1542/peds.2008-0297 · Cited by 160 · see citing works

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Dathe, K., Kjaer, K. W., Brehm, A., Meinecke, P., Nürnberg, P., Neto, J. C., Brunoni, D., Tommerup, N., Ott, C., Klopocki, E., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.001 · Cited by 159 · see citing works

α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism

Ibáñez, P. (2009) · Archives of Neurology · doi:10.1001/archneurol.2008.555 · Cited by 152 · see citing works

Array-Based DNA Diagnostics: Let the Revolution Begin

Beaudet, A. L., & Belmont, J. W. (2007) · Annual Review of Medicine · doi:10.1146/annurev.med.59.012907.101800 · Cited by 144 · see citing works

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

Shao, L., Shaw, C. A., Lu, X., Sahoo, T., Bacino, C. A., Lalani, S. R., Stankiewicz, P., Yatsenko, S. A., Li, Y., Neill, S. E., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32399 · Cited by 133 · see citing works

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

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome

Klopocki, E., Ott, C.-E., Benatar, N., Ullmann, R., Mundlos, S., & Lehmann, K. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.055699 · Cited by 118 · see citing works

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

Kurth, I., Klopocki, E., Stricker, S., van Oosterwijk, J. G., Vanek, S., Altmann, J., Santos, H. G., van Harssel, J. J. T., de Ravel, T. J. L., Wilkie, A. O. M., et al. (2009) · Nature Genetics · doi:10.1038/ng0809-862 · Cited by 116 · see citing works

Frequency of new copy number variation in humans

van Ommen, G. B. (2005) · Nature Genetics · doi:10.1038/ng0405-333 · Cited by 116 · see citing works

Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients

Suls, A., Claeys, K. G., Goossens, D., Harding, B., van Luijk, R., Scheers, S., Deprez, L., Audenaert, D., Dyck, T. V., Beeckmans, S., et al. (2006) · Human Mutation · doi:10.1002/humu.20350 · Cited by 114 · see citing works

Unequal Meiotic Crossover: A Frequent Cause of NF1 Microdeletions

López-Correa, C., Brems, H., Lázaro, C., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302920 · Cited by 110 · see citing works

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect

Lee, J. A., Madrid, R. E., Sperle, K., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20732 · Cited by 91 · see citing works

Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia

Sun, M., Li, N., Wu, D., Chen, Z., Liu, Q. F., Xu, Y., He, G., Shi, Y., Li, X., Hao, J., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.04.018 · Cited by 84 · see citing works

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

Lee, J. A., Inoue, K., Cheung, S. W., Shaw, C. A., Stankiewicz, P., & Lupski, J. R. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl150 · Cited by 80 · 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

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

Yatsenko, S. A., Brundage, E. K., Roney, E. K., Cheung, S. W., Chinault, A. C., & Lupski, J. R. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp114 · Cited by 73 · see citing works

Genomic disorders : the genomic basis of disease

Lupski, J. R., & Stankiewicz, P. (2006) · doi:10.1007/978-1-59745-039-3 · Cited by 72 · see citing works

Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)

Smyk, M., Berg, J. S., Pursley, A. N., Curtis, F. K., Fernandez, B. A., Bien-Willner, G. A., Lupski, J. R., Cheung, S. W., & Stankiewicz, P. (2007) · Human Genetics · doi:10.1007/s00439-007-0373-8 · Cited by 60 · see citing works

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Kurotaki, N., Shen, J. J., Touyama, M., Kondoh, T., Visser, R., Ozaki, T., Nishimoto, J., Shiihara, T., Uetake, K., Makita, Y., et al. (2005) · Genetics in Medicine · doi:10.1097/01.gim.0000177419.43309.37 · Cited by 47 · see citing works

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

Long, F., Duckett, D., Billam, L. J., Williams, D. K., & Crolla, J. A. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.5.425 · Cited by 43 · see citing works

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

Erez, A., Patel, A. J., Wang, X., et al. (2009) · Neurogenetics · doi:10.1007/s10048-009-0195-z · Cited by 40 · see citing works

Genomic Disorders: Genome Architecture Results in Susceptibility to DNA Rearrangements Causing Common Human TraitsPreprint

Stankiewicz, P., Inoue, K., Bi, W., Walz, K., Park, S. S., Kurotaki, N., Shaw, C., Fonseca, P., Yan, J., LEE, J. A., et al. (2003) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2003.68.445 · Cited by 32 · see citing works

Low complement C4B gene copy number predicts short-term mortality after acute myocardial infarction

Blaskó, B., Kolka, R., Thorbjornsdottir, P., et al. (2007) · International Immunology · doi:10.1093/intimm/dxm117 · Cited by 22 · see citing works

Genomic copy number variation and its potential role in lipoprotein and metabolic phenotypes

Pollex, R. L., & Hegele, R. A. (2007) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e32802e6c12 · Cited by 21 · see citing works

Array CGH Reveals Genomic Aberrations in Human Emphysema

Choi, J. S., Lee, W. J., Baik, S. H., Yoon, H. K., Lee, K.-H., Kim, Y. H., Lim, Y., & Wang, Y.-P. (2009) · Lung · doi:10.1007/s00408-009-9142-x · Cited by 14 · see citing works

Coming of age: ten years of next-generation sequencing technologies

Goodwin, S., McPherson, J. D., & McCombie, W. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.49 · Cited by 4,352 · see citing works

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) · Nature Genetics · doi:10.1038/ng.2711 · Cited by 2,263 · see citing works

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, D. G., Kraft, K., Heinrich, V., Krawitz, P., Brancati, F., Klopocki, E., Horn, D., Kayserili, H., Opitz, J. M., Laxova, R., et al. (2015) · Cell · doi:10.1016/j.cell.2015.04.004 · Cited by 2,132 · see citing works

Causes and consequences of replication stress

Zeman, M. K., & Cimprich, K. A. (2014) · Nature Cell Biology · doi:10.1038/ncb2897 · Cited by 2,079 · see citing works

Mapping copy number variation by population-scale genome sequencing

1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature · doi:10.1038/nature09708 · Cited by 1,140 · see citing works

Uncovering the roles of rare variants in common disease through whole-genome sequencing

Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136 · see citing works

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

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797 · see citing works

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643 · see citing works

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1200395 · Cited by 621 · see citing works

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

Fiddes, I. T., Lodewijk, G. A., Mooring, M., Bosworth, C. M., Ewing, A. D., Mantalas, G. L., Novak, A. M., van den Bout, A., Bishara, A., Rosenkrantz, J. L., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.051 · Cited by 595 · see citing works

Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation

Charrier, C., Joshi, K., Coutinho-Budd, J., Kim, J.-E., Lambert, N., de Marchena, J., Jin, W.-L., Vanderhaeghen, P., Ghosh, A., Sassa, T., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.034 · Cited by 454 · see citing works

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature · doi:10.1038/nature11091 · Cited by 410 · see citing works

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

Horev, G., Ellegood, J., Lerch, J. P., Son, Y.-E. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1114042108 · Cited by 330 · see citing works

Sequence-based characterization of structural variation in the mouse genome

Yalcin, B., Wong, K., Agam, A., Goodson, M., Keane, T. M., Gan, X., Nellåker, C., Goodstadt, L., Nicod, J., Bhomra, A., et al. (2011) · Nature · doi:10.1038/nature10432 · Cited by 301 · see citing works

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Mikhail, F. M., Lose, E. J., Robin, N. H., Descartes, M. D., Rutledge, K. D., Rutledge, S. L., Korf, B. R., & Carroll, A. J. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34177 · Cited by 168 · see citing works

Tipping the balance of autism risk: potential mechanisms linking pesticides and autism

Shelton, J. F., Hertz-Picciotto, I., & Pessah, I. N. (2012) · Environmental Health Perspectives · doi:10.1289/ehp.1104553 · Cited by 164 · see citing works

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

Urraca, N., Cleary, J., Brewer, V., Pivnick, E. K., McVicar, K., Thibert, R. L., Schanen, N. C., Esmer, C., Lamport, D., & Reiter, L. T. (2013) · Autism Research · doi:10.1002/aur.1284 · Cited by 164 · see citing works

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Wilfert, A. B., Sulovari, A., Turner, T. N., Coe, B. P., & Eichler, E. E. (2017) · Genome Medicine · doi:10.1186/s13073-017-0498-x · Cited by 144 · see citing works

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

Abyzov, A., Li, S., Kim, D. R., Mohiyuddin, M., Stütz, A. M., Parrish, N. F., Mu, X. J., Clark, W., Chen, K., Hurles, M., et al. (2015) · Nature Communications · doi:10.1038/ncomms8256 · Cited by 91 · see citing works

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Study, D. (. D. I. S. A. C., Liu, J., Zhou, Y., Liu, S., Song, X., Yang, X.-Z., Fan, Y., Chen, W., Akdemir, Z. C., Yan, Z., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1910-3 · Cited by 77 · see citing works

Current analysis platforms and methods for detecting copy number variation

Li, W., & Olivier, M. (2013) · Physiological Genomics · doi:10.1152/physiolgenomics.00082.2012 · Cited by 82 · see citing works

De novo mutations from whole exome sequencing in neurodevelopmental and psychiatric disorders: From discovery to application

Wang, W., Corominas, R., & Lin, G. N. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00258 · Cited by 70 · see citing works

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the<scp>ENIGMA</scp>working groups on<scp>CNVs</scp>

Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67 · see citing works

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease

Jiang, Q., Ho, Y.-Y., Hao, L., Nichols Berrios, C., & Chakravarti, A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021219 · Cited by 62 · see citing works

Increased female autosomal burden of rare copy number variants in human populations and in autism families

Desachy, G., Croen, L. A., Torres, A. R., Kharrazi, M., Delorenze, G. N., Windham, G. C., Yoshida, C. K., & Weiss, L. A. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.179 · Cited by 54 · see citing works

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

Noh, H. J., Ponting, C. P., Boulding, H. C., Meader, S., Betancur, C., Buxbaum, J. D., Pinto, D., Marshall, C. R., Lionel, A. C., Scherer, S. W., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003523 · Cited by 54 · see citing works

A phenome-wide structural variant map from 467,152 UK Biobank genomes

Atanur, S. S., Hu, F., Lou, H., Li, X., Zou, X. Z., O’Dell, S., Deevi, S. V. V., Sawczuk, P., Megy, K., Fairhurst-Hunter, Z., et al. (2026) · Cell · doi:10.1016/j.cell.2026.09.035

DNA Microarray‐Based Technologies to Genotype Single Nucleotide Polymorphisms

Park, J. H., Jung, Y. L., Lee, K., et al. (2018) · doi:10.1002/9783527803293.ch30 · Cited by 1 · see citing works

Single Nucleotide Polymorphism Mapping Array Assay

Zhou, X. C., & Wong, D. T. (2007) · Methods in molecular biology · doi:10.1007/978-1-59745-515-2_19 · Cited by 3 · see citing works

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Wiszniewska, J., Bi, W., Shaw, C. A., Stankiewicz, P., Kang, S.-H. L., Pursley, A. N., Lalani, S. R., Hixson, P. M., Gambin, T., Tsai, C.-H., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.77 · Cited by 130 · see citing works

Toward genome-wide SNP genotyping

Syvänen, A. (2005) · Nature Genetics · doi:10.1038/ng1558 · Cited by 464 · see citing works

Screening and detection of chromosomal copy number alterations in the domestic horse using SNP‐array genotyping data

Pirosanto, Y., Laseca, N., Valera, M., Molina, A., Moreno‐Millán, M., Bugno‐Poniewierska, M., Ross, P. J., Azor, P. J., & Demyda-Peyrás, S. (2021) · Animal Genetics · doi:10.1111/age.13077 · Cited by 10 · see citing works