Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

International System for Human Cytogenetic Nomenclature

National Cancer Institute (2020) · Definitions · doi:10.32388/78qroa · Cited by 6,873 · 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

de la Chapelle, A.

Beighton, P., & Beighton, G. (1997) · Springer eBooks · doi:10.1007/978-1-4471-0925-9_118 · Cited by 3,160 · 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

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

Structural variation in the human genome

Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,051 · see citing works

Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

Stranger, B. E., Forrest, M. S., Dunning, M., Ingle, C., Beazley, C., Thorne, N., Redon, R., Bird, C., Grassi, A., Lee, C., et al. (2007) · Science · doi:10.1126/science.1136678 · Cited by 1,709 · see citing works

Copy number variation: New insights in genome diversityPreprint

Freeman, J. L., Perry, G. H., Feuk, L., Redon, R., McCarroll, S. A., Altshuler, D., Aburatani, H., Jones, K. W., Tyler‐Smith, C., Hurles, M. E., et al. (2006) · Genome Research · doi:10.1101/gr.3677206 · Cited by 848 · see citing works

Common deletion polymorphisms in the human genome

McCarroll, S. A., Hadnott, T. N., Perry, G. H., Sabeti, P. C., Zody, M. C., Barrett, J. C., Dallaire, S., Gabriel, S. B., Lee, C., Daly, M. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1696 · Cited by 701 · 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

A high-resolution survey of deletion polymorphism in the human genome

Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E., & Pritchard, J. K. (2005) · Nature Genetics · doi:10.1038/ng1697 · Cited by 653 · see citing works

Diagnostic genome profiling in mental retardation

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., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605 · see citing works

SEGMENTAL ANEUPLOIDY AND THE GENETIC GROSS STRUCTURE OF THE DROSOPHILA GENOME

Lindsley, D. L., Sandler, L., Baker, B. S., Carpenter, A. T. C., Denell, R. E., Hall, J. C., Jacobs, P. A., Miklos, G. L. G., Davis, B. K., Gethmann, R. C., et al. (1972) · Genetics · doi:10.1093/genetics/71.1.157 · Cited by 599 · see citing works

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotypingPreprint

Peiffer, D. A., Le, J. M., Steemers, F. J., Chang, W., Jenniges, T., Garcia, F., Haden, K., Li, J., Shaw, C. A., Belmont, J. W., et al. (2006) · Genome Research · doi:10.1101/gr.5402306 · Cited by 519 · see citing works

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Shaw-Smith, C., Redon, R., Rickman, L., Rio, M., Willatt, L., Fiegler, H., Firth, H., Sanlaville, D., Winter, R. M., Colleaux, L., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017731 · Cited by 512 · see citing works

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Vissers, L. E. L. M., de Vries, B. B. A., Osoegawa, K., Janssen, I. M., Feuth, T., Choy, C. O., Straatman, H., van der Vliet, W., Huys, E. H. L. P. G., van Rijk, A., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/379977 · Cited by 469 · cited 1× · 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

Subtle chromosomal rearrangements in children with unexplained mental retardation

Knight, S. J. L., Regan, R., Nicod, A., Horsley, S. W., Kearney, L., Homfray, T., Winter, R. M., Bolton, P., & Jonathan Flint, C. (1999) · The Lancet · doi:10.1016/s0140-6736(99)03070-6 · Cited by 451 · see citing works

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesompele, J., Melotte, C., de Ravel, T. J. L., Vooren, S. V., Balikova, I., Backx, L., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.039453 · Cited by 420 · see citing works

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

Ravnan, J. B., Tepperberg, J. H., Papenhausen, P., Lamb, A. N., Hedrick, J., Eash, D., Ledbetter, D. H., & Martin, C. L. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036350 · Cited by 412 · see citing works

Challenges and standards in integrating surveys of structural variation

Scherer, S. W., Lee, C., Birney, E., Altshuler, D., Eichler, E. E., Carter, N. P., Hurles, M. E., & Feuk, L. (2007) · Nature Genetics · doi:10.1038/ng2093 · Cited by 410 · 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

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

Hildebrandt, F., Otto, E. A., Rensing, C., Nothwang, H. G., Vollmer, M., Adolphs, J., Hanusch, H., & Brandis, M. (1997) · Nature Genetics · doi:10.1038/ng1097-149 · Cited by 352 · see citing works

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

Friedman, J. M., Baross, Á., Delaney, A. D., Ally, A., Arbour, L. T., Asano, J. K., Bailey, D. K., Barber, S., Birch, P. H., Brown-John, M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/507471 · Cited by 328 · see citing works

A complete set of human telomeric probes and their clinical application

Ning, Y., Roschke, A. V., Smith, A. C. M., Macha, M. E., Precht, K. S., Riethman, H. C., Ledbetter, D. H., Jonathan Flint, C., Horsley, S. W., Regan, R., et al. (1996) · Nature Genetics · doi:10.1038/ng0996-86 · Cited by 299 · see citing works

An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

Knight, S. J. L., Lese, C. M., Precht, K. S., Kuc, J. A., Ning, Y., Lucas, S., Regan, R., Brenan, M., Nicod, A., Lawrie, N. M., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302998 · Cited by 290 · 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

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

A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans

Brewer, C., Holloway, S. M., Zawalnyski, P., Schinzel, A., & FitzPatrick, D. R. (1999) · The American Journal of Human Genetics · doi:10.1086/302410 · Cited by 217 · 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

Genome assembly comparison identifies structural variants in the human genome

Khaja, R., Zhang, J., MacDonald, J. R., He, Y., Joseph‐George, A. M., Wei, J., Rafiq, M., Qian, C., Shago, M., Pantano, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1921 · Cited by 166 · see citing works

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

Saunier, S. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.13.2317 · Cited by 145 · 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

Pericentric inversions of human chromosomes 9 and 10.

de la Chapelle, A., Schröder, J., STENSTRAND, K., Fellman, J., Herva, R., Saarni, M., Anttolainen, I., Tallila, I., Tervilä, L., Husa, L., et al. (1974) · Europe PMC (PubMed Central) · Cited by 125 · see citing works

Allele quantification using molecular inversion probes (MIP)

Wang, Y. (2005) · Nucleic Acids Research · doi:10.1093/nar/gni177 · Cited by 87 · see citing works

“Molecular rulers” for calibrating phenotypic effects of telomere imbalance

Martin, C. L., Waggoner, D., Wong, A., Uhrig, S., Roseberry, J. A., Hedrick, J., Pack, S., Russell, K. L., Zackai, E. H., Dobyns, W. B., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.10.734 · Cited by 76 · see citing works

International standing committee on human cytogenetic nomenclature

Mitelman, F. (1996) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(96)90076-x · Cited by 73 · see citing works

Cytogenetic Heteromorphisms: Survey Results and Reporting Practices of Giemsa-Band Regions That We Have Pondered for Years

Brothman, A. R., Schneider, N. R., Saikevych, I. A., Cooley, L. D., Butler, M. G., Patil, S. R., Mascarello, J. T., Rao, K. W., Dewald, G. W., Park, J. P., et al. (2006) · Archives of Pathology & Laboratory Medicine · doi:10.5858/2006-130-947-chsrar · Cited by 67 · see citing works

Diagnostic Genome Profiling

Veltman, J. A., & Vries, B. B. A. D. (2006) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2006.060131 · Cited by 47 · see citing works

Following the herd

Wooding, S. (2006) · Nature Genetics · doi:10.1038/ng0107-7 · Cited by 33 · see citing works

Interstitial deletion of 6q without phenotypic effect

Hansson, K. B. M., Szuhai, K., Knijnenburg, J., van Haeringen, A., & de Pater, J. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31783 · Cited by 21 · see citing works

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · 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

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F., & South, S. T. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182217a3a · Cited by 929 · 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

Characterising and Predicting Haploinsufficiency in the Human Genome

Huang, N., Lee, I., Marcotte, E. M., & Hurles, M. E. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001154 · Cited by 649 · see citing works

Structural variation in the sequencing era

Ho, S. S., Urban, A. E., & Mills, R. E. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0180-9 · Cited by 608 · see citing works

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

Moeschler, J., & Shevell, M. (2014) · Pediatrics · doi:10.1542/peds.2014-1839 · Cited by 547 · see citing works

Variation in genome-wide mutation rates within and between human families

the 1000 Genomes Project (2011) · Nature Genetics · doi:10.1038/ng.862 · Cited by 581 · see citing works

Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation

Whale, A. S., Huggett, J. F., Cowen, S., Speirs, V., Shaw, J., Ellison, S., Foy, C. A., & Scott, D. J. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks203 · Cited by 453 · see citing works

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 · see citing works

Principles for the post-GWAS functional characterization of cancer risk loci

Freedman, M. L., Monteiro, Á. N. A., Gayther, S. A., Coetzee, G. A., Risch, A., Plass, C., Casey, G., Biasi, M. D., Carlson, C., Duggan, D. J., et al. (2011) · Nature Genetics · doi:10.1038/ng.840 · Cited by 436 · see citing works

Challenges and standards in integrating surveys of structural variation

Scherer, S. W., Lee, C., Birney, E., Altshuler, D., Eichler, E. E., Carter, N. P., Hurles, M. E., & Feuk, L. (2007) · Nature Genetics · doi:10.1038/ng2093 · Cited by 410 · see citing works

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Pinto, D., Darvishi, K., Shi, X. M., Rajan, D., Rigler, D., Fitzgerald, T. W., Lionel, A. C., Thiruvahindrapuram, B., MacDonald, J. R., Mills, R. E., et al. (2011) · Nature Biotechnology · doi:10.1038/nbt.1852 · Cited by 403 · see citing works

Large multiallelic copy number variations in humans

Handsaker, R. E., Doren, V. V., Berman, J. R., Genovese, G., Kashin, S., Boettger, L. M., & McCarroll, S. A. (2015) · Nature Genetics · doi:10.1038/ng.3200 · Cited by 382 · see citing works

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

South, S. T., Lee, C., Lamb, A. N., Higgins, A. W., & Kearney, H. M. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.129 · Cited by 375 · see citing works

Genetics of the human Y chromosome and its association with male infertility

Colaco, S., & Modi, D. N. (2018) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-018-0330-5 · Cited by 315 · see citing works

Mobile elements create structural variation: Analysis of a complete human genomePreprint

Xing, J., Zhang, Y., Han, K., Salem, A. H., Sen, S. K., Huff, C., Zhou, Q., Kirkness, E. F., Levy, S., Batzer, M. A., et al. (2009) · Genome Research · doi:10.1101/gr.091827.109 · Cited by 313 · see citing works

Genetics of crystallins: Cataract and beyond

Graw, J. (2008) · Experimental Eye Research · doi:10.1016/j.exer.2008.10.011 · Cited by 289 · see citing works

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

Hochstenbach, R., van Binsbergen, E., Engelen, J. J. M., Nieuwint, A. W. M., Polstra, A. M., Poddighe, P. J., Ruivenkamp, C. A. L., Sikkema‐Raddatz, B., Smeets, D., & Poot, M. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.015 · Cited by 283 · see citing works

Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

Stuppia, L., Antonucci, I., Palka, G., & Gatta, V. (2012) · International Journal of Molecular Sciences · doi:10.3390/ijms13033245 · Cited by 276 · see citing works

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta‐analysis

Hillman, S., Pretlove, S. J., Coomarasamy, A., McMullan, D. J., Davison, E. V., Maher, E. R., & Kilby, M. D. (2010) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.7754 · Cited by 236 · see citing works

Copy number polymorphism in plant genomes

Żmieńko, A., Samelak-Czajka, A., Kozłowski, P., & Figlerowicz, M. (2013) · Theoretical and Applied Genetics · doi:10.1007/s00122-013-2177-7 · Cited by 199 · see citing works

Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease

Bassett, A. S., Scherer, S. W., & Brzustowicz, L. M. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2009.09071016 · Cited by 201 · 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

The array CGH and its clinical applications

Shinawi, M. S., & Cheung, S. W. (2008) · Drug Discovery Today · doi:10.1016/j.drudis.2008.06.007 · Cited by 200 · see citing works

Penetrance for copy number variants associated with schizophrenia

Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., & Lewis, C. M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq259 · Cited by 182 · see citing works

The clinical context of copy number variation in the human genome

Lee, C., & Scherer, S. W. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399410001390 · Cited by 182 · see citing works

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Schluth‐Bolard, C., Delobel, B., Sanlaville, D., Boute, O., Cuisset, J., Sukno, S., Labalme, A., Duban‐Bedu, B., Plessis, G., Jaillard, S., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.05.011 · Cited by 175 · see citing works

State of the Art for Genetic Testing of Infertile Men

McLachlan, R. I., & O’Bryan, M. K. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1925 · Cited by 172 · see citing works

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 162 · 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

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

Tyreman, M., Abbott, K. M., Willatt, L. R., Nash, R., Lees, C. C., Whittaker, J., & Simonic, I. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.065482 · Cited by 159 · see citing works

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

Vissers, L. E. L. M., Vries, B. B. A. D., & Veltman, J. A. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.072942 · Cited by 156 · see citing works

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Faas, B. H. W., van der Burgt, I., Kooper, A. J. A., Pfundt, R., Hehir‐Kwa, J. Y., Smits, A. P. T., & de Leeuw, N. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.075853 · Cited by 143 · 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

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

Chromosomal microarray testing influences medical management

Coulter, M. E., Miller, D. T., Harris, D. J., Hawley, P. P., Picker, J. D., Roberts, A. E., Sobeih, M. M., & Irons, M. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31821dd54a · Cited by 122 · see citing works

Towards an evidence‐based process for the clinical interpretation of copy number variation

Riggs, E., Church, D., Hanson, K. J., Horner, V., Kaminsky, E. B., Kuhn, R. M., Wain, K., Williams, E., Aradhya, S., Kearney, H., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01818.x · Cited by 121 · see citing works

Genomic changes detected by array CGH in human embryos with developmental defects

Rajcan‐Separovic, E., Qiao, Y., Tyson, C., Harvard, C., Fawcett, C., Kalousek, D. K., Stephenson, M. D., & Philipp, T. (2009) · Molecular Human Reproduction · doi:10.1093/molehr/gap083 · Cited by 116 · see citing works

Human genetics and genomics a decade after the release of the draft sequence of the human genome

Naidoo, N., Yudi Pawitan, Y., Soong, R., Cooper, D. N., & Ku, C. (2011) · Human Genomics · doi:10.1186/1479-7364-5-6-577 · Cited by 113 · see citing works

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

Leung, T. Y., Vogel, I., Lau, T. K., Chong, W., Hyett, J. A., Petersen, O. B., & Choy, K. W. (2011) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.8988 · Cited by 112 · see citing works

Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases

Fiorentino, F., Caiazzo, F., Napolitano, S., Spizzichino, L., Bono, S., Sessa, M., Nuccitelli, A., Biricik, A., Gordon, A. T., Rizzo, G., et al. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2884 · Cited by 109 · see citing works

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

Richards, A. A., Santos, L. J. J., Nichols, H. A., Crider, B. P., Elder, F. F. B., Hauser, N. S., Zinn, A. R., & Garg, V. (2008) · Pediatric Research · doi:10.1203/pdr.0b013e31818095d0 · Cited by 109 · see citing works

Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss

Rajcan‐Separovic, E., Diego‐Álvarez, D., Robinson, W. P., Tyson, C., Qiao, Y., Harvard, C., Fawcett, C., Kalousek, D. K., Philipp, T., Somerville, M. J., et al. (2010) · Human Reproduction · doi:10.1093/humrep/deq202 · Cited by 109 · see citing works

Private inherited microdeletion/microduplications: Implications in clinical practice

Mencarelli, M. A., Katzaki, E., Papa, F. T., Sampieri, K., Caselli, R., Uliana, V., Pollazzon, M., Canitano, R., Mostardini, R., Grosso, S., et al. (2008) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2008.06.003 · Cited by 105 · see citing works

Molecular genetics of congenital cataracts

Li, J., Chen, X., Yan, Y., & Yao, K. (2019) · Experimental Eye Research · doi:10.1016/j.exer.2019.107872 · Cited by 104 · see citing works

Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure

McGuire, M. M., Bowden, W., Engel, N. J., Ahn, H. W., Kovanci, E., & Rajkovic, A. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2010.12.052 · Cited by 102 · see citing works

Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects

Breckpot, J., Thienpont, B., Peeters, H., de Ravel, T. J. L., Singer, A., Rayyan, M., Allegaert, K., Vanhole, C., Eyskens, B., Vermeesch, J. R., et al. (2010) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2009.11.049 · Cited by 96 · see citing works

Rare genetic diseases: update on diagnosis, treatment and online resources

Pogue, R. E., Cavalcanti, D. P., Shanker, S., de Andrade, R. V., Aguiar, L. R., Carvalho, J. L., & Costa, F. F. (2017) · Drug Discovery Today · doi:10.1016/j.drudis.2017.11.002 · Cited by 94 · see citing works

Pathogenic or not? Assessing the clinical relevance of copy number variants

Hehir‐Kwa, J. Y., Pfundt, R., Veltman, J. A., & de Leeuw, N. (2013) · Clinical Genetics · doi:10.1111/cge.12242 · Cited by 93 · see citing works

Genome-wide patterns of copy number variation in the diversified chicken genomes using next-generation sequencing

Yi, G., Qu, L., Liu, J., Yan, Y., Xu, G., & Yang, N. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-962 · Cited by 91 · see citing works

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

South, S. T., Rope, A. F., Lamb, A. N., Aston, E., Glaus, N., Whitby, H., Maxwell, T. M., Zhu, X., & Brothman, A. R. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.057315 · Cited by 89 · see citing works

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Jaillard, S., Dubourg, C., Gérard‐Blanluet, M., Delahaye‐Duriez, A., Pasquier, L., Dupont, C., Henry, C., Tabet, A.-C., Lucas, J., Aboura, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058156 · Cited by 89 · see citing works

Contemplating effects of genomic structural variation

Buchanan, J. A., & Scherer, S. W. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e318183f848 · Cited by 88 · see citing works

Visualization of Fine-Scale Genomic Structure by Oligonucleotide-Based High-Resolution FISH

Yamada, N. A., Rector, L. S., Tsang, P. W. K., Carr, E. L., Scheffer, A. G., Sederberg, M. C., Aston, M. E., Ach, R. A., Tsalenko, A., Sampas, N. M., et al. (2010) · Cytogenetic and Genome Research · doi:10.1159/000322717 · Cited by 86 · see citing works

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Gijsbers, A. C. J., Lew, J. Y., Bosch, C. A. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., den Hollander, N. S., Kant, S. G., Bijlsma, E. K., Breuning, M. H., Bakker, E., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.74 · Cited by 84 · see citing works

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

Bremer, A., Giacobini, M., Eriksson, M. A., Gustavsson, P., Nordin, V., Fernell, E., Gillberg, C., Nordgren, A., Uppströmer, Å., Anderlid, B., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31142 · Cited by 83 · see citing works

The genetic basis for type 1 diabetes

Mehers, K. L., & Gillespie, K. M. (2008) · British Medical Bulletin · doi:10.1093/bmb/ldn045 · Cited by 83 · see citing works

High‐resolution array genomic hybridization in prenatal diagnosis

Friedman, J. M. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2129 · Cited by 83 · see citing works

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis

Rodríguez‐Revenga, L., Milà, M., Rosenberg, C., Lamb, A. N., & Lee, C. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e318149e1e3 · Cited by 83 · see citing works

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Li, F., Shen, Y., Köhler, U., Sharkey, F. H., Menon, D. U., Coulleaux, L., Malan, V., Rio, M., McMullan, D. J., Cox, H. S., et al. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.01.004 · Cited by 79 · see citing works

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

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

McMullan, D. J., von Bonin, M., Hehir‐Kwa, J. Y., Vries, B. B. A. D., Dufke, A., Rattenberry, E., Steehouwer, M., Moruz, L., Pfundt, R., de Leeuw, N., et al. (2009) · Human Mutation · doi:10.1002/humu.21015 · Cited by 73 · see citing works

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Bassett, A. S., & Costain, G. (2012) · The Application of Clinical Genetics · doi:10.2147/tacg.s21953 · Cited by 71 · see citing works

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

Bruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D. J., Delatycki, M. B., Gardner, R. J. M., Hunter, M. F., James, P. A., Kannus, P., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.062604 · Cited by 71 · see citing works

The impact of chromosomal microarray on clinical management: a retrospective analysis

Henderson, L. B., Applegate, C. D., Wohler, E., Sheridan, M. B., Hoover-Fong, J., & Batista, D. A. S. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.18 · Cited by 71 · see citing works

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Friedman, J. M., Adam, S., Arbour, L. T., Armstrong, L., Baross, Á., Birch, P. H., Boerkoel, C. F., Chan, S. Y., Chai, D., Delaney, A. D., et al. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-526 · Cited by 70 · see citing works

Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data

Ali‐Khan, S. E., Daar, A. S., Shuman, C. T., Ray, P. N., & Scherer, S. W. (2009) · Pediatric Research · doi:10.1203/pdr.0b013e3181b0cbd8 · Cited by 68 · see citing works

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Hanemaaijer, N., Sikkema‐Raddatz, B., van der Vries, G. B., Dijkhuizen, T., Hordijk, R., van Essen, A. J., Veenstra‐Knol, H. E., Kerstjens‐Frederikse, W. S., Herkert, J. C., Gerkes, E. H., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.174 · Cited by 69 · see citing works

Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients

Buizer-Voskamp, J. E., Muntjewerff, J.-W., Strengman, E., Sabatti, C., Stefansson, H., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.02.015 · Cited by 68 · see citing works

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Breckpot, J., Thienpont, B., Arens, Y. H. J. M., Tranchevent, L.-C., Vermeesch, J. R., Moreau, Y., Gewillig, M. H. M. L., & Devriendt, K. (2011) · Cytogenetic and Genome Research · doi:10.1159/000331272 · Cited by 67 · see citing works

Clinical Significance of Rare Copy Number Variations in Epilepsy

Striano, P. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.1999 · Cited by 66 · see citing works

Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications

Wou, K., Levy, B., & Wapner, R. J. (2016) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2016.01.017 · Cited by 67 · see citing works

Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome

Balikova, I., Lehesjoki, A., de Ravel, T. J. L., Thienpont, B., Chandler, K., Clayton‐Smith, J., Träskelin, A. L., Fryns, J.-P., & Vermeesch, J. R. (2009) · Human Mutation · doi:10.1002/humu.21065 · Cited by 67 · see citing works

The prediction of protein subcellular localization from sequence: a shortcut to functional genome annotation

Casadio, R., Martelli, P. L., & Pierleoni, A. (2008) · Briefings in Functional Genomics and Proteomics · doi:10.1093/bfgp/eln003 · Cited by 67 · see citing works

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Bernardini, L., Alesi, V., Loddo, S., Novelli, A., Bottillo, I., Battaglia, A., Digilio, M. C., Zampino, G., Ertel, A., Fortina, P. M., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.154 · Cited by 65 · see citing works

Genetic evaluation of the floppy infant

Prasad, A. N., & Prasad, C. (2010) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2010.11.002 · Cited by 65 · see citing works

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

Iourov, I. Y., Vorsanova, S. G., Куринная, О. С., Zelenova, M. A., Silvanovich, A. P., & Yurov, Y. B. (2012) · Molecular Cytogenetics · doi:10.1186/1755-8166-5-46 · Cited by 65 · see citing works

Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation

Xiang, B., Zhu, H., Shen, Y., Miller, D. T., Lu, K., Hu, X., Andersson, H. C., Narumanchi, T. M., Wang, Y., Martinez, J. E., et al. (2010) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2010.090115 · Cited by 64 · see citing works

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Shao, L., Akkari, Y. M. N., Cooley, L. D., Miller, D. T., Seifert, B. A., Wolff, D. J., & Mikhail, F. M. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01214-w · Cited by 62 · see citing works

Copy Number Variant Analysis of Human Embryonic Stem Cells

Wu, H., Kim, K. J., Mehta, K. R., Paxia, S., Sundstrom, A., Anantharaman, T., Kuraishy, A. I., Doan, T., Ghosh, J., Pyle, A. D., et al. (2008) · Stem Cells · doi:10.1634/stemcells.2007-0993 · Cited by 59 · see citing works

The impact of human copy number variation on a new era of genetic testing

Choy, K. W., Setlur, S., Lee, C., & Lau, T. K. (2010) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2009.02470.x · Cited by 58 · see citing works

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Bartnik, M., Szczepanik, E., Derwińska, K., Wiśniowiecka‐Kowalnik, B., Gambin, T., Sykulski, M., Ziemkiewicz, K., Kędzior, M., Goś, M., Hoffman‐Zacharska, D., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32081 · Cited by 58 · see citing works

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

Tsuchiya, K. D., Shaffer, L. G., Aradhya, S., Gastier, J. M., Patel, A., Rudd, M. K., Biggerstaff, J. S., Sanger, W. G., Schwartz, S., Tepperberg, J. H., et al. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181c0c3b0 · Cited by 58 · see citing works

Microarrays in prenatal diagnosis

Oneda, B., & Rauch, A. M. (2017) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2017.01.003 · Cited by 58 · see citing works

Considerations Regarding the Genetics of Obesity

Chung, W. K., & Leibel, R. L. (2008) · Obesity · doi:10.1038/oby.2008.514 · Cited by 56 · see citing works

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

Canton, A. P. M., da Costa, S. S., Rodrigues, T. C., Bertola, D. R., Malaquias, A. C., Correa, F. A., Arnhold, I. J. P., Rosenberg, C., & Jorge, A. A. L. (2014) · European Journal of Endocrinology · doi:10.1530/eje-14-0232 · Cited by 54 · see citing works

Microarray-Based Genomic DNA Profiling Technologies in Clinical Molecular Diagnostics

Shen, Y., & Wu, B.-L. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2008.112821 · Cited by 54 · see citing works

Detection of structural mosaicism from targeted and whole-genome sequencing dataPreprint

King, D. A., Sifrim, A., Fitzgerald, T. W., Rahbari, R., Hobson, E., Homfray, T., Mansour, S., Mehta, S. G., Shehla, M., Tomkins, S. E., et al. (2017) · Genome Research · doi:10.1101/gr.212373.116 · Cited by 54 · see citing works

Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): Fine mapping and FTO gene expression study

van den Berg, L., de Waal, H. A. D., Han, J. C., Ylstra, B., Eijk, P. P., Nesterova, M., Heutink, P., & Stratakis, C. A. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33229 · Cited by 53 · see citing works

Whole‐genome copy number variation analysis in anophthalmia and microphthalmia

Schilter, K., Reis, L. M., Schneider, A. S., Bardakjian, T., Abdul-Rahman, O. A., Kozel, B., Zimmerman, H., Broeckel, U., & Semina, E. V. (2013) · Clinical Genetics · doi:10.1111/cge.12202 · Cited by 52 · see citing works

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Hehir‐Kwa, J. Y., Wieskamp, N., Webber, C., Pfundt, R., Brunner, H. G., Gilissen, C., Vries, B. B. A. D., Ponting, C. P., & Veltman, J. A. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1000752 · Cited by 52 · see citing works

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

Evangelidou, P., Sismani, C., Ioannides, M., Christodoulou, C. I., Koumbaris, G., Kallikas, I., Georgiou, I. A., Velissariou, V., & Patsalis, P. C. (2010) · Molecular Cytogenetics · doi:10.1186/1755-8166-3-24 · Cited by 51 · see citing works

Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive

Mishra, S., & Whetstine, J. R. (2016) · Molecular and Cellular Biology · doi:10.1128/mcb.00652-15 · Cited by 51 · see citing works

Mutations in MAPT Gene Cause Chromosome Instability and Introduce Copy Number Variations Widely in the Genome

Rossi, G., Conconi, D., Panzeri, E., Redaelli, S., Piccoli, E., Paoletta, L., Dalprà, L., & Tagliavini, F. (2013) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-121633 · Cited by 50 · see citing works

Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis

Saldarriaga, W., García‐Perdomo, H. A., Arango-Pineda, J. C., & Fonseca, J. (2014) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2014.10.011 · Cited by 50 · see citing works

Cytogenetic Technology — Genotype and Phenotype

Ledbetter, D. H. (2008) · New England Journal of Medicine · doi:10.1056/nejme0806570 · Cited by 49 · see citing works

Novel applications of array comparative genomic hybridization in molecular diagnostics

Cheung, S. W., & Bi, W. (2018) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2018.1479253 · Cited by 48 · see citing works

The causality of de novo copy number variants is overestimated

Vermeesch, J. R., Balikova, I., Schrander-Stumpel, C. T. R. M., Fryns, J., & Devriendt, K. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.83 · Cited by 47 · see citing works

Parents’ Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis

Kiedrowski, L. A., Owens, K. M., Yashar, B. M., & Schuette, J. L. (2015) · Journal of Genetic Counseling · doi:10.1007/s10897-015-9847-3 · Cited by 47 · see citing works

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

Gijsbers, A. C. J., Schoumans, J., & Ruivenkamp, C. A. L. (2011) · Cytogenetic and Genome Research · doi:10.1159/000334066 · Cited by 42 · see citing works

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis

Rodríguez‐Revenga, L., Milà, M., Rosenberg, C., Lamb, A. N., & Lee, C. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e318149e1e3 · Cited by 83 · see citing works

High resolution array in the clinical approach to chromosomal phenotypes

Filges, I., Suda, L., Weber, P., Datta, A., Fischer, D., Dill, P. E., Glanzmann, R., Benzing, J., Hegi, L., Wenzel, F., et al. (2012) · Gene · doi:10.1016/j.gene.2011.12.042 · Cited by 7 · see citing works

The causality of de novo copy number variants is overestimated

Vermeesch, J. R., Balikova, I., Schrander-Stumpel, C. T. R. M., Fryns, J., & Devriendt, K. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.83 · Cited by 47 · see citing works

Interpretation of Copy Number Alterations Identified Through Clinical Microarray-Comparative Genomic Hybridization

Pyatt, R. E., & Astbury, C. (2011) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2011.08.007 · Cited by 5 · see citing works