Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

The Human Genome Browser at UCSC

Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400

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 4,377

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964

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 938

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

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 596

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

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 432

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Potocki, L., Chen, K.-S., Park, S. S., Osterholm, D. E., Withers, M. A., Kimonis, V. E., Summers, A. M., Meschino, W. S., Anyane‐Yeboa, K., Kashork, C. D., et al. (2000) · Nature Genetics · doi:10.1038/71743 · Cited by 420

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics · doi:10.1038/ng753 · Cited by 344

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

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

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

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.018 · Cited by 969

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854

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

Meiotic Recombination: The Essence of HeredityPreprint

Hunter, N. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016618 · Cited by 802

Mechanisms underlying structural variant formation in genomic disorders

Carvalho, C. M. B., & Lupski, J. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.25 · Cited by 774

Mechanisms for human genomic rearrangements

Gu, W., Zhang, F., & Lupski, J. R. (2008) · PathoGenetics · doi:10.1186/1755-8417-1-4 · Cited by 744

Copy-number variations associated with neuropsychiatric conditions

Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659

Phenotypic impact of genomic structural variation: insights from and for human disease

Weischenfeldt, J., Symmons, O., Spitz, F., & Korbel, J. O. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3373 · Cited by 674

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580

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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822c79f9 · Cited by 437

Circular DNA elements of chromosomal origin are common in healthy human somatic tissue

Møller, H. D., Mohiyuddin, M., Prada-Luengo, I., Sailani, M. R., Halling, J. F., Plomgaard, P., Maretty, L., Hansen, A. J., Snyder, M. P., Pilegaard, H., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03369-8 · Cited by 413

Copy number variations and cancer

Shlien, A., & Malkin, D. (2009) · Genome Medicine · doi:10.1186/gm62 · Cited by 386

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

Goriely, A., & Wilkie, A. O. M. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.017 · Cited by 365

Clan Genomics and the Complex Architecture of Human Disease

Lupski, J. R., Belmont, J. W., Boerwinkle, E., & Gibbs, R. A. (2011) · Cell · doi:10.1016/j.cell.2011.09.008 · Cited by 375

Human Copy Number Variation and Complex Genetic Disease

Girirajan, S., Campbell, C. D., & Eichler, E. E. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-102209-163544 · Cited by 378

Teratozoospermia: spotlight on the main genetic actors in the human

Coutton, C., Escoffier, J., Martinez, G., Arnoult, C., & Ray, P. F. (2015) · Human Reproduction Update · doi:10.1093/humupd/dmv020 · Cited by 352

Mechanisms for recurrent and complex human genomic rearrangements

Liu, P., Carvalho, C. M. B., Hastings, P., & Lupski, J. R. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.012 · Cited by 359

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

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

Kloosterman, W. P., Guryev, V., van Roosmalen, M. J., Duran, K. J., de Bruijn, E., Bakker, S. C. M., Letteboer, T. G. W., van Nesselrooij, B. P. M., Hochstenbach, R., Poot, M., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr073 · Cited by 322

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

Berg, I. L., Neumann, R., Lam, K.-W. G., Sarbajna, S., Odenthal-Hesse, L., May, C. A., & Jeffreys, A. J. (2010) · Nature Genetics · doi:10.1038/ng.658 · Cited by 315

Somatic mosaicism: implications for disease and transmission genetics

Campbell, I. M., Shaw, C. A., Stankiewicz, P., & Lupski, J. R. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.03.013 · Cited by 296

Extrachromosomal circular DNA is common in yeast

Møller, H. D., Parsons, L. R., Jørgensen, T. S., Botstein, D., & Regenberg, B. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1508825112 · Cited by 296

Microduplication 22q11.2: A new chromosomal syndrome

Portnoï, M. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.02.008 · Cited by 285

Properties and rates of germline mutations in humans

Campbell, C. D., & Eichler, E. E. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.04.005 · Cited by 292

Natural Selection Shapes Genome-Wide Patterns of Copy-Number Polymorphism in Drosophila melanogaster

Emerson, J. J., Cardoso-Moreira, M., Borevitz, J., & Long, M. (2008) · Science · doi:10.1126/science.1158078 · Cited by 253

Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S., Bainbridge, M., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.07.023 · Cited by 249

The genomic basis of the Williams – Beuren syndrome

Schubert, C. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8401-y · Cited by 245

Genome destabilization by homologous recombination in the germ line

Sasaki, M., Lange, J., & Keeney, S. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2849 · Cited by 254

Genomic disorders ten years on

Lupski, J. R. (2009) · Genome Medicine · doi:10.1186/gm42 · Cited by 223

Clinical variability of the 22q11.2 duplication syndrome

Wentzel, C., Fernström, M., Öhrner, Y., Annerén, G., & Thuresson, A. (2008) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2008.07.005 · Cited by 219

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., Romano, C., Delle Chiaie, B., Mortier, G., Menten, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.02.006 · Cited by 216

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Harbuz, R., Zouari, R., Pierre, V., Khelifa, M. B., Kharouf, M., Coutton, C., Merdassi, G., Abada, F., Escoffier, J., Nikas, Y., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.02.007 · Cited by 198

Genomic copy number variation, human health, and disease

Wain, L. V., Armour, J. A., & Tobin, M. D. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60249-x · Cited by 196

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

Lam, H. Y. K., Mu, X. J., Stütz, A. M., Andrea Tanzer, A., Cayting, P. D., Snyder, M. P., Kim, P. M., Korbel, J. O., & Gerstein, M. (2009) · Nature Biotechnology · doi:10.1038/nbt.1600 · Cited by 193

The Genetics of Microdeletion and Microduplication Syndromes: An Update

Watson, C. T., Marquès‐Bonet, T., Sharp, A. J., & Mefford, H. C. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153408 · Cited by 189

Genomic rearrangements in inherited disease and cancer

Chen, J., Cooper, D. N., Férec, C., Kehrer‐Sawatzki, H., & Patrinos, G. P. (2010) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2010.05.007 · Cited by 181

Copy-number changes in evolution: rates, fitness effects and adaptive significance

Katju, V., & Bergthorsson, U. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00273 · Cited by 177

Contact in the genetics of autism and schizophrenia

Burbach, J. P. H., & van der Zwaag, B. (2009) · Trends in Neurosciences · doi:10.1016/j.tins.2008.11.002 · Cited by 176

Copy number variation in the bovine genome

Fadista, J., Thomsen, B., Holm, L., & Bendixen, C. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-284 · Cited by 171

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Zhang, F., Seeman, P., Liu, P., Weterman, M. A. J., Gonzaga-Jauregui, C. G., Towne, C. F., Batish, S. D., Vriendt, E. D., Jonghe, P. D., Rautenstrauss, B. W., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.05.001 · Cited by 168

Detecting simultaneous changepoints in multiple sequences

Zhang, N. R., Siegmund, D., Ji, H. P., & Li, J. (2010) · Biometrika · doi:10.1093/biomet/asq025 · Cited by 158

Microdeletion and Microduplication Syndromes

Weise, A., Mrasek, K., Klein, E., Mulatinho, M. V., Llerena, J. C., Hardekopf, D. W., Peková, Š., Bhatt, S., Kosyakova, N., & Liehr, T. (2012) · Journal of Histochemistry & Cytochemistry · doi:10.1369/0022155412440001 · Cited by 160

Copy number variants at Williams–Beuren syndrome 7q11.23 region

Merla, G., Brunetti‐Pierri, N., Micale, L., & Fusco, C. (2010) · Human Genetics · doi:10.1007/s00439-010-0827-2 · Cited by 159

Structural variation mutagenesis of the human genome: Impact on disease and evolution

Lupski, J. R. (2015) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21943 · Cited by 151

Gene copy-number polymorphism in nature

Schrider, D. R., & Hahn, M. W. (2010) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2010.1180 · Cited by 151

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

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

Navarro‐Costa, P., Gonçalves, J., & Plancha, C. E. (2010) · Human Reproduction Update · doi:10.1093/humupd/dmq005 · Cited by 143

Inverted duplications deletions: underdiagnosed rearrangements??

Zuffardi, O., Bonaglia, M. C., Ciccone, R., & Giorda, R. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01187.x · Cited by 142

Understanding what determines the frequency and pattern of human germline mutations

Arnheim, N., & Calabrese, P. P. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2529 · Cited by 136

Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1Preprint

Hollox, E. J., Barber, J. C. K., Brookes, A. J., & Armour, J. A. L. (2008) · Genome Research · doi:10.1101/gr.080945.108 · Cited by 138

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

Cooper, D. N., Bacolla, A., Férec, C., Vásquez, K. M., Kehrer‐Sawatzki, H., & Chen, J. (2011) · Human Mutation · doi:10.1002/humu.21557 · Cited by 136

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

Whibley, A. C., Plagnol, V., Tarpey, P. S., Abidi, F., Fullston, T., Choma, M. K., Boucher, C. A., Shepherd, L., Willatt, L. R., Parkin, G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.017 · Cited by 135

An initial comparative map of copy number variations in the goat (Capra hircus) genome

Fontanesi, L., Martelli, P. L., Beretti, F., Riggio, V., Dall’Olio, S., Colombo, M., Casadio, R., Russo, V., & Portolano, B. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-639 · Cited by 135

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traitsPreprint

Dittwald, P., Gambin, T., Szafrański, P., Li, J., Amato, S., Divon, M. Y., Rojas, L. X. R., Elton, L., Scott, D. A., Schaaf, C. P., et al. (2013) · Genome Research · doi:10.1101/gr.152454.112 · Cited by 131

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

1q21.1 Study Group, Rosenfeld, J. A., Traylor, R. N., Schaefer, G. B., McPherson, E. W., Ballif, B. C., Klopocki, E., Mundlos, S., Shaffer, L. G., & Aylsworth, A. S. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.6 · Cited by 134

Hotspots of Human Mutation

Nesta, A. V., Tafur, D., & Beck, C. R. (2020) · Trends in Genetics · doi:10.1016/j.tig.2020.10.003 · Cited by 132

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

Liu, P., Lacaria, M., Zhang, F., Withers, M. A., Hastings, P. J., & Lupski, J. R. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.009 · Cited by 128

High Spontaneous Rate of Gene Duplication in Caenorhabditis elegans

Lipinski, K. J., Farslow, J. C., Fitzpatrick, K. A., Lynch, M., Katju, V., & Bergthorsson, U. (2011) · Current Biology · doi:10.1016/j.cub.2011.01.026 · Cited by 130

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 124

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

Torniero, C., Bernardina, B. D., Novara, F., Cerini, R., Bonaglia, M. C., Pramparo, T., Ciccone, R., Guerrini, R., & Zuffardi, O. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.42 · Cited by 117

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Liu, P., Yuan, B., Carvalho, C. M. B., Wüster, A., Walter, K., Zhang, L., Gambin, T., Chong, Z., Campbell, I. M., Coban‐Akdemir, Z., et al. (2017) · Cell · doi:10.1016/j.cell.2017.01.037 · Cited by 112

Quantifying the mechanisms of domain gain in animal proteins

Buljan, M., Frankish, A., & Bateman, A. (2010) · Genome Biology · doi:10.1186/gb-2010-11-7-r74 · Cited by 112

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

A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

Beunders, G., van de Kamp, J. M., Veenhoven, R. H., van Hagen, J. M., Nieuwint, A. W. M., & Sistermans, E. A. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.070490 · Cited by 111

Exome sequencing and whole genome sequencing for the detection of copy number variation

Hehir‐Kwa, J. Y., Pfundt, R., & Veltman, J. A. (2015) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2015.1053467 · Cited by 117

The functional repertoires of metazoan genomes

Ponting, C. P. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2413 · Cited by 110

Genomic disorders: A window into human gene and genome evolution

Carvalho, C. M. B., Zhang, F., & Lupski, J. R. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906222107 · Cited by 106

Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex

Traherne, J. A., Martin, M. P., Ward, R. D., Ohashi, M., Pellett, F., Gladman, D. D., Middleton, D., Carrington, M. N., & Trowsdale, J. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp538 · Cited by 106

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Breuss, M. W., Antaki, D., George, R. D., Kleiber, M. L., James, K. N., Ball, L., Hong, O., Mitra, I., Yang, X., Wirth, S. A., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0711-0 · Cited by 107

Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

Li, H. H., Roy, M., Kusçuoglu, U., Spencer, C. M., Halm, B., Harrison, K. C., Bayle, J. H., Splendore, A., Ding, F., Meltzer, L. A., et al. (2009) · EMBO Molecular Medicine · doi:10.1002/emmm.200900003 · Cited by 107

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Zhang, F., Potocki, L., Sampson, J. B., Liu, P., Sanchez‐Valle, A., Robbins-Furman, P. J., Navarro, A. D., Wheeler, P. G., Spence, J. E., Brasington, C. K., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.02.001 · Cited by 102

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Grisart, B., Willatt, L. R., Destrèe, A., Fryns, J., Rack, K. A., de Ravel, T. J. L., Rosenfeld, J. A., Vermeesch, J. R., Verellen‐Dumoulin, C., & Sandford, R. N. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.065367 · Cited by 101

Extensive Copy-Number Variation of Young Genes across Stickleback Populations

Chain, F. J. J., Feulner, P. G. D., Panchal, M., Eizaguirre, C., Samonte, I. E., Kalbe, M., Lenz, T. L., Stoll, M., Bornberg‐Bauer, E., Milinski, M., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004830 · Cited by 93

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

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

Campbell, C. D., Sampas, N., Tsalenko, A., Sudmant, P. H., Kidd, J. M., Malig, M., Vu, T. H., Vives, L., Tsang, P. W. K., Bruhn, L., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.02.004 · Cited by 92

Assembly of a Pangenome for Global Cattle Reveals Missing Sequences and Novel Structural Variations, Providing New Insights into Their Diversity and Evolutionary History

Zhou, Y., Yang, L., Han, X., Han, J., Hu, Y., Li, F., Xia, H., Peng, L., Boschiero, C., Rosen, B. D., et al. (2022) · Genome Research · doi:10.1101/gr.276550.122 · Cited by 89

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

Molina, Ò., Antón, E., Vidal, F., & Blanco, J. (2010) · Human Genetics · doi:10.1007/s00439-010-0894-4 · Cited by 89

Contemplating effects of genomic structural variation

Buchanan, J. A., & Scherer, S. W. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e318183f848 · Cited by 90

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Liu, P., Erez, A., Nagamani, S. C. S., Bi, W., Carvalho, C. M. B., Simmons, A. D., Wiszniewska, J., Fang, P., Eng, P. A., Cooper, M. L., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr078 · Cited by 85

Circular DNA in the human germline and its association with recombination

Henriksen, R. A., Jenjaroenpun, P., Sjøstrøm, I. B., Jensen, K. H. R., Prada-Luengo, I., Wongsurawat, T., Nookaew, I., & Regenberg, B. (2021) · Molecular Cell · doi:10.1016/j.molcel.2021.11.027 · Cited by 84

Reduced purifying selection prevails over positive selection in human copy number variant evolutionPreprint

Nguyen, D.-Q., Webber, C., Hehir‐Kwa, J. Y., Pfundt, R., Veltman, J. A., & Ponting, C. P. (2008) · Genome Research · doi:10.1101/gr.077289.108 · Cited by 84

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 85

Extensive genomic copy number variation in embryonic stem cells

Liang, Q., Conte, N., Skarnes, W. C., & Bradley, A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0805638105 · Cited by 81

Microdeletion and Microduplication Syndromes

Vissers, L. E. L. M., & Stankiewicz, P. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_2 · Cited by 86

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

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

Hermetz, K. E., Newman, S., Conneely, K. N., Martin, C. L., Ballif, B. C., Shaffer, L. G., Cody, J. D., & Rudd, M. K. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004139 · Cited by 78

Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

Benito‐Sanz, S., Barroso, E., Heine‐Suñer, D., Hisado-Oliva, A., Romanelli, V., Rosell, J., Aragonés, Á., Caimari, M., Argente, J., ROSS, J. L., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1689 · Cited by 76

Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances

South, S. T., & Lamb, A. N. (2009) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530050902767002 · Cited by 71

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

Campbell, I. M., Gambin, T., Dittwald, P., Beck, C. R., Shuvarikov, A., Hixson, P. M., Patel, A., Gambin, A., Shaw, C. A., Rosenfeld, J. A., et al. (2014) · BMC Biology · doi:10.1186/s12915-014-0074-4 · Cited by 74

Epimutations and cancer predisposition: importance and mechanisms

Hesson, L. B., Hitchins, M. P., & Ward, R. L. (2010) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2010.02.005 · Cited by 70

Dynamic nature of the proximalAZFcregion of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis

Balaresque, P. L., Bowden, G. R., Parkin, E. J., Omran, G. A., Heyer, É., Quintana‐Murci, L., Roewer, L., Stoneking, M., Nasidze, I., Carvalho‐Silva, D., et al. (2008) · Human Mutation · doi:10.1002/humu.20757 · Cited by 69

Classification of cancers based on copy number variation landscapes

Zhang, N., Wang, M., Zhang, P., & Huang, T. (2016) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2016.06.003 · Cited by 66

An estimation of the prevalence of genomic disorders using chromosomal microarray data

Gillentine, M. A., Lupo, P. J., Stankiewicz, P., & Schaaf, C. P. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0451-x · Cited by 61

Modeling human disease in rodents by CRISPR/Cas9 genome editing

Birling, M., Hérault, Y., & Pavlovic, G. (2017) · Mammalian Genome · doi:10.1007/s00335-017-9703-x · Cited by 73

Analysis of repair mechanism choice during homologous recombination

Agmon, N., Pur, S., Liefshitz, B., & Kupiec, M. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp495 · Cited by 73

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

Molina, Ò., Antón, E., Vidal, F., & Blanco, J. (2010) · Human Genetics · doi:10.1007/s00439-010-0894-4 · Cited by 89

Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

Coutton, C., Abada, F., Karaouzène, T., Sanlaville, D., Satre, V., Lunardi, J., Jouk, P., Arnoult, C., Thierry‐Mieg, N., & Ray, P. F. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003363 · Cited by 32

Genomic rearrangements in the spotlight

Osborne, L. R. (2007) · Nature Genetics · doi:10.1038/ng0108-6 · Cited by 4

Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2

Shaw, C. J., Bi, W., & Lupski, J. R. (2002) · The American Journal of Human Genetics · doi:10.1086/344346 · Cited by 98

De novo deletions and duplications at recombination hotspots in mouse germlines

Lukaszewicz, A., Lange, J., Keeney, S., & Jasin, M. (2021) · Cell · doi:10.1016/j.cell.2021.10.025 · Cited by 54