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References

  • Association for Clinical Cytogenetics. 2007. ACC Professional Guidelines for Clinical Cytogenetics: General Best Practice Guidelines v.1.04.
  • Association for Clinical Cytogenetics. 2009. ACC Professional Guidelines for Clinical Cytogenetics: Constitutional Array CGH Best Practice Guidelines v.1.00.
  • Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Traskelin AL, Fryns JP, Vermeesch JR. 2009. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat 30:E845E854.
  • Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, and others. 2008. Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am J Hum Genet 82:181187.
  • Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA. 2006. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 140:27572767.
  • Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, and others. 2010. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mut 31(12):132642.
  • Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K. 2009. Genetic testing in asymptomatic minors: background considerations towards ESHG recommendations. Eur J Hum Genet 17:711719.
  • Brady PD, Vermeesch JR. Genomic arrays: a technology overview. Prenat Diagn(in press).
  • Buysse K, Delle Chiaie B, Van Coster R, Loeys B, De Paepe A, Mortier G, Speleman F, Menten B. 2009. Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet 52:398403.
  • Cheng J, Vanneste E, Konings P, Voet T, Vermeesch JR, Moreau Y. 2011. Single-cell copy number variation detection. Genome Biol 12:R80.
  • Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, and others. 2007. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 143A:16791686.
  • Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB. 2010. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 19:12631275.
  • Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, and others. 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43:838846.
  • Cornel M, Evers-Kiebooms G, Ayme S, Braga S, Bricarelli FD, Hodgson S, Kosztolany G, Lubinski J, Ozgüc M, Patch C, Sequeiros J, Tranebjaerg L, and others. 2009. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur J Hum Genet 17:720721.
  • Dar M, Giesler T, Richardson R, Cai C, Cooper M, Lavasani S, Kille P, Voet T, Vermeesch J. 2008. Development of a novel ozone- and photo-stable HyPer5 red fluorescent dye for array CGH and microarray gene expression analysis with consistent performance irrespective of environmental conditions. BMC Biotechnol 8:86.
  • de Leeuw N, Hehir-Kwa JY, Simons A, Geurts van Kessel A, Smeets DF, Faas BH, Pfundt R. 2011. SNP array analysis in constitutional and cancer genome diagnostics—copy number variants, genotyping and quality control. Cytogenet Genome Res 135:212–221.
  • de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CMA, Scherer SW, Shams S, Van Vooren S, Sijmons R, Swertz M, Hastings R. 2012. Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources. Hum Mut 33:930940.
  • deRavel TJ, Devriendt K, Fryns JP, Vermeesch JR. 2007. What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH). Eur J Pediatr 166:637643.
  • European Cytogenetics Association. 2011. General Guidelines and Quality Assurance for Cytogenetics v.2. Ros Hastings, Rod Howell, Franca Dagna Bricarelli, Ulf Kristoffersson, Simona Cavani. www.e-c-a.eu/EN/.
  • Fare TL, Coffey EM, Dai H, He YD, Kessler DA, Kilian KA, Koch JE, LeProust E, Marton MJ, Meyer MR, Stoughton RB, Tokiwa GY, Wang Y. 2003. Effects of atmospheric ozone on microarray data quality. Anal Chem 75:46724675.
  • Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, van Ravenswaaij CM, Schinzel A. 2006. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet 49:279291.
  • Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, and others. 2009. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet 47:195203.
  • Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey O, Ellis P, Feuk L, French L, Hunt P, and others. 2006. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res 16:15661574.
  • Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP. 2009. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Am J Hum Genet 84:524533.
  • Gardner RJM, Sutherland GR. 2004. Chromosome abnormalities and genetic counseling. 3rd ed. Oxford, UK: Oxford University Press. ISBN 0195149602.
  • Girirajan S, Eichler EE. 2010. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176R187.
  • Hannes FD, Sharp AJ, Mefford HC, deRavel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, and others. 2009. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46:223232.
  • Hoang S, Ahn J, Mann K, Bint S, Mansour S, Homfray T, Mohammed S, Ogilvie CM. 2011. Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform. Eur J Med Genet 54:121129.
  • International Standing Committee on Human Cytogenetic Nomenclature,Shaffer LG, Slovak ML, Campbell LJ. ISCN 2009. An international system for human cytogenetic nomenclature (2009). Basel, Switzerland: S. Karger AG. ISBN 978-3805589859.
  • Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. 2009. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84:148161.
  • Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, and others. 2011. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med 13:777784.
  • Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW. 2011a. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med 13:676679.
  • Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST. 2011b. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 13:680685.
  • Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. 2005. Complement factor H polymorphism in age-related macular degeneration. Science 308:385389.
  • Lai WR, Johnson MD, Kucherlapati R, Park PJ. 2005. Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data. Bioinformatics 21:37633770.
  • Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Ariani F, and others. 2008. Private inherited microdeletion/microduplications: implications in clinical practice. Eur J Med Genet 51:409416.
  • Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel TJ, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, and others. 2006. 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. J Med Genet 43:625633.
  • Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, and others. 2010. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749764.
  • Olshen AB, Venkatraman ES, Lucito R, Wigler M. 2004. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 5:557572.
  • Organisation for Economic Co-operation and Development. OECD Guidelines for Quality Assurance in Molecular Genetic Testing. www.oecd.org/sti/biotechnology/genomics; Accessed on October, 2011.
  • Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. 2008. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10:267277.
  • Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, and others. 2010. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet 18:11331140.
  • Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, and others. 2011. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol 29:512520.
  • Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. 2010. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med 12:8592.
  • Simons A, Sikkema-Raddatz B, de Leeuw N, Konrad NC, Hastings RJ, Schoumans J. 2012. Genome-Wide Arrays in Routine Diagnostics of Hematological Malignancies. Hum Mut 33:941948.
  • Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, Boutin P, Vincent D, Belisle A, Hadjadj S, Balkau B, Heude B, and others. 2007. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445:881885.
  • Stankiewicz P, Beaudet AL. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182192.
  • Valli R, Marletta C, Pressato B, Montalbano G, Lo CF, Pasquali F, Maserati E. 2011. Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells. Mol Cytogenet 4:13.
  • Van deWiel MA, Brosens R, Eilers PH, Kumps C, Meijer GA, Menten B, Sistermans E, Speleman F, Timmerman ME, Ylstra B. 2009. Smoothing waves in array CGH tumor profiles. Bioinformatics 25:10991104.
  • Venkatraman ES, Olshen AB. 2007. A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 23:657663.
  • Vermeesch JR, Fiegler H, deLeeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O. 2007. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15:11051114.
  • Vermeesch JR, Melotte C, Froyen G, Van Vooren S, Dutta B, Maas N, Vermeulen S, Menten B, Speleman F, De Moor B, Van Hummelen P, Marynen P, Fryns JP, Devriendt K. 2005. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 53:413422.
  • Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K, Sikkema-Raddatz B, Ledbetter DH, Zuffardi O, van Ravenswaaij-Arts CMA. 2012. The Introduction of Arrays in Prenatal Diagnosis: A Special Challenge. Hum Mut 33:923929.
  • Wellcome Trust Case Control Consortium. 2007. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661678.