Bibliography on copy number variations (2008)

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  1. Brett S Abrahams, Daniel H Geschwind (2008), "Advances in autism genetics: on the threshold of a new neurobiology", Nature Reviews Genetics, 9:341-355.
    [abstract]

  2. Robin Andersson, Carl E G Bruder, Arkadiusz Piotrowski, Uwe Menzel, Helena Nord, Johanna Sandgren, Torgeir R Hvidsten, Teresita Diaz de Ståhl, Jan P Dumanski, Jan Komorowski (2008), "A segmental maximum a posteriori approach to genome-wide copy number profiling", Bioinformatics, 24(6):751-758.
    [abstract]

  3. JS Bae, HS Cheong, JO Kim, SO Lee, EM Kim, HW Lee, S Kim, JW Kim, T Cui, I Inoue, HD Shin (2008), "Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population", Biochemical and Biophysical Research Communications, to appear.

  4. I Balikova, K Martens, C Melotte, M Amyere, S Van Vooren, Y Moreau, D Vetrie, H Fiegler, NP Carter, T Liehr, M Vikkula, G Matthijs, JP Fryns, I Casteels, K Devriendt, JR Vermeesch (2008), "Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16", American Journal of Human Genetics, 82(1):181-187.

  5. Julia Baptista, Catherine Mercer, Elena Prigmore, Susan M Gribble, Nigel P Carter, Viv Maloney, N Simon Thomas, Patricia A Jacobs, John A Crolla (2008), "Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort", American Journal of Human Genetics, 82(4):927-936.
    [ abstract]

  6. Chris Barnes, Vincent Plagnol, Tomas Fitzgerald, Richard Redon, Jonathan Marchini, David Clayton, Matthew E Hurles (2008), "A robust statistical method for case-control association testing with copy number variation", Nature Genetics, 40:1245-1252.
    [ abstract]

  7. A Bashir, S Volik, C Collins, V Bafna, BJ Raphael (2008), "Evaluation of paired-end sequencing strategies for detection of genome rearrangements in cancer", PLoS Computational Biology, 4(4):e1000051.

  8. A Blokhin, T Vyshkina, S Komoly, B Kalman (2008), "Variations in Mitochondrial DNA Copy Numbers in MS Brains", Journal of Molecular Neuroscience, to appear.

  9. N Bosch, G Escaramís, JM Mercader, L Armengol, X Estivill (2008), "Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds", Gene, 420(2):113-117.

  10. Carl EG Bruder, Arkadiusz Piotrowski,Antoinet ACJ Gijsbers, Robin Andersson, Stephen Erickson, Teresita Diaz de Stahl, Uwe Menzel, Johanna Sandgren, Desiree von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E Christopher Partridge, Hemant Tiwari, David B Allison, Jan Komorowski, Gert-Jan B van Ommen, Dorret I Boomsma, Nancy L Pedersen, Johan T den Dunnen, Karin Wirdefeldt, Jan P Dumanski (2008), "Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles", American Journal of Human Genetics, 82(3):763-771.
    [ abstract] [PDF]

  11. A Brunet, L Armengol, T Pelaez, R Guillamat, V Vallès, E Gabau, X Estivill, M Guitart (2008), "Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia", Behav Brain Funct., 4:10.

  12. MG Butler, W Fischer, N Kibiryeva, DC Bittel (2008), "Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome", American Journal of Medical Genetics A, 146(7):854-860.

  13. P Cahan, LE Godfrey, PS Eis, TA Richmond, RR Selzer, M Brent, HL McLeod, TJ Ley, TA Graubert (2008), "wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data", Nucleic Acids Research, 36(7):e41.
    [abstract]

  14. RM Cantor, DH Geschwind (2008), "Schizophrenia: genome, interrupted", Neuron, 58(2):165-167.

  15. Claudia M B Carvalho, James R Lupski (2008), "Copy number variation at the breakpoint region of isochromosome 17q", Genome Research, to appear.
    [ abstract]

  16. B Chanda, M Asai-Coakwell, M Ye, AJ Mungall, M Barrow, WB Dobyns, H Behesti, JC Sowden, NP Carter, MA Walter, OJ Lehmann (2008), "A novel mechanistic spectrum underlies glaucoma associated chromosome 6p25 copy number variation", Human Molecular Genetics, to appear.

  17. Y Chen, C Chen (2008), "DNA copy number variation and loss of heterozygosity in relation to recurrence of and survival from head and neck squamous cell carcinoma: a review", Head & Neck, 30(10):1361-1383.

  18. B Chi, RJ deLeeuw, BP Coe, RT Ng, C MacAulay, WL Lam (2008), "MD-SeeGH: a platform for integrative analysis of multi-dimensional genomic data", BMC Bioinformatics, 9:243.

  19. R Colobran, D Comas, R Faner, E Pedrosa, R Anglada, R Pujol-Borrell, J Bertranpetit, M Juan (2008), "Population structure in copy number variation and SNPs in the CCL4L chemokine gene", Genes & Immunity, 9:279-288.
    [ abstract]

  20. EH Cook Jr., SW Scherer (2008), "Copy-number variations associated with neuropsychiatric conditions", Nature, 455(7215):919-923.

  21. Gregory M Cooper, Troy Zerr, Jeffrey M Kidd, Evan E Eichler, Deborah A Nickerson (2008), "Systematic assessment of copy number variant detection via genome-wide SNP genotyping", Nature Genetics, 40:1199-1203.
    [ abstract]

  22. S Cronin, HM Blauw, JH Veldink, MA van Es, RA Ophoff, DG Bradley, LH van den Berg, O Hardiman (2008), "Analysis of genome-wide copy number variation in Irish and Dutch ALS populations", Human Molecular Genetics, to appear.

  23. Adam J De Smith, Robin G Walters, Lachlan J M Coin, Israel Steinfeld, Zohar Yakhini, Rob Sladek, Philippe Froguel, Alexandra I F Blakemore (2008), "Small deletion variants have stable breakpoints commonly associated with Alu elements", PLoS One, 3(8): e3104.
    [ abstract]

  24. TD De Stahl, J Sandgren, A Piotrowski, H Nord, R Andersson, U Menzel, A Bogdan, AC Thuresson, A Poplawski, D von Tell, CM Hansson, AI Elshafie, G Elghazali, S Imreh, M Nordenskjöld, M Upadhyaya, J Komorowski, CE Bruder, JP Dumanski (2008), "Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array", Human Mutation, 29(3):398-408.
    [ abstract]

  25. Sharon J Diskin, Mingyao Li, Cuiping Hou, Shuzhang Yang, Joseph Glessner, Hakon Hakonarson, Maja Bucan, John M Maris, and Kai Wang (2008), "Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms", Nucleic Acids Research, to appear.
    [ abstract]

  26. S Dube, J Qin, R Ramakrishnan (2008), "Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device", PLoS ONE, 3(8):e2876.

  27. X Estivill, NJ Cox, SJ Chanock, PY Kwok, SW Scherer, AJ Brookes (2008), "SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report", PLoS Genetics, 4(4):e1000068

  28. Chandra Erdman, John W. Emerson (2008), "A fast Bayesian change point analysis for the segmentation of microarray data", Bioinformatics, 24(19):2143-2148.
    [abstract]

  29. J Fadista, M Nygaard, LE Holm, B Thomsen, C Bendixen (2008), "A snapshot of CNVs in the pig genome", PLoS One, 3(12):e3916.

  30. L Franke, CG de Kovel, YS Aulchenko, G Trynka, A Zhernakova, KA Hunt, HM Blauw, LH van den Berg, R Ophoff, P Deloukas, DA van Heel, C Wijmenga (2008), "Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays", American Journal of Human Genetics, 82(6):1316-1333.
    [ abstract]

  31. JL Freeman, C Ceol, H Feng, DM Langenau, C Belair, HM Stern, A Song, BH Paw, AT Look, Y Zhou, LI Zon, C Lee (2008), "Construction and application of a zebrafish array CGH platform", Genes Chrom Cancer, to appear.

  32. JR González, JL Carrasco, L Armengol, S Villatoro, L Jover, Y Yasui, X Estivill (2008), "Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)", BMC Bioinformatics, 9:261.

  33. KL Gorringe, IG Campbell (2008), "High-resolution copy number arrays in cancer and the problem of normal genome copy number variation", Genes, Chromosomes & Cancer, 47(11):933-938.

  34. L Gouas, C Goumy, L Véronèse, A Tchirkov, P Vago (2008), "Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities", Pathologie Biologie, to appear.

  35. M Groth, K Szafranski, S Taudien, K Huse, O Mueller, P Rosenstiel, AO Nygren, S Schreiber, G Birkenmeier, M Platzer (2008), "High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes", Human Mutation, to appear.

  36. V Grubor, A Krasnitz, JE Troge, JL Meth, B Lakshmi, JT Kendall, B Yamrom, G Alex, D Pai, N Navin, LA Hufnagel, YH Lee, K Cook, SL Allen, KR Rai, RN Damle, C Calissano, N Chiorazzi, M Wigler, D Esposito (2008), "Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA)", Blood, to appear.

  37. Victor Guryev, Kathrin Saar, Tatjana Adamovic, Mark Verheul, Sebastiaan A A C van Heesch, Stuart Cook, Michal Pravenec, Timothy Aitman, Howard Jacob, James D Shull, Norbert Hubner, Edwin Cuppen (2008), "Distribution and functional impact of DNA copy number variation in the rat", Nature Genetics, 40:538-545.
    [abstract]

  38. A Hogart, D Wu, JM Lasalle, NC Schanen (2008), "The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13", Neurobiol Dis., to appear.

  39. Edward J Hollox, Ulrike Huffmeier, Patrick L J M Zeeuwen, Raquel Palla, Jesús Lascorz, Diana Rodijk-Olthuis, Peter C M van de Kerkhof, Heiko Traupe, Gys de Jongh, Martin den Heijer, André Reis, John A L Armour, Joost Schalkwijk (2008), "Psoriasis is associated with increased β-defensin genomic copy number", Nature Genetics, 40:23-25.
    [ abstract]

  40. I Ionita-Laza, NM Laird, BA Raby, ST Weiss, C Lange (2008), "On the frequency of copy number variants", Bioinformatics, 24(20):2350-2355.
    [abstract]

  41. I Ionita-Laza, GH Perry, BA Raby, B Klanderman, C Lee, NM Laird, ST Weiss, C Lange (2008), "On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test", Genetic Epidemiology, 32(3):273-284.
    [ abstract]

  42. I Ionita-Laza, AJ Rogers, C Lange, BA Raby, C Lee (2008), "Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis", Genomics, to appear.

  43. Mattias Jakobsson, Sonja W Scholz, Paul Scheet, J Raphael Gibbs, Jenna M VanLiere, Hon-Chung Fung, Zachary A Szpiech, James H Degnan, Kai Wang, Rita Guerreiro, Jose M Bras, Jennifer C Schymick, Dena G Hernandez, Bryan J Traynor, Javier Simon-Sanchez, Mar Matarin, Angela Britton, Joyce van de Leemput, Ian Rafferty, Maja Bucan, Howard M Cann, John A Hardy, Noah A Rosenberg, Andrew B Singleton (2008), "Genotype, haplotype and copy-number variation in worldwide human populations", Nature, 451:998-1003.
    [abstract]

  44. MJ Kas, C Gelegen, LC Schalkwyk, DA Collier (2008), "Interspecies comparisons of functional genetic variations and their implications in neuropsychiatry", American Journal of Medical Genetics, B, to appear.

  45. M Kato, Y Nakamura, T Tsunoda (2008), "MOCSphaser: a haplotype inference tool from a mixture of copy number variation and single nucleotide polymorphism data", Bioinformatics, 24(14):1645-1646.
    [abstract] [PDF]

  46. Mamoru Kato, Yusuke Nakamura, Tatsuhiko Tsunoda (2008), "An algorithm for inferring complex haplotypes in a region of copy-number variation", American Journal of Human Genetics, 83(2):157-169.
    [ abstract]

  47. Jeffrey M Kidd, Gregory M Cooper, William F Donahue, Hillary S Hayden, Nick Sampas, Tina Graves, Nancy Hansen, Brian Teague, Can Alkan, Francesca Antonacci, Eric Haugen, Troy Zerr, N Alice Yamada, Peter Tsang, Tera L Newman, Eray Tüzün, Ze Cheng, Heather M Ebling, Nadeem Tusneem, Robert David, Will Gillett, Karen A Phelps, Molly Weaver, David Saranga, Adrianne Brand, Wei Tao, Erik Gustafson, Kevin McKernan, Lin Chen, Maika Malig, Joshua D Smith, Joshua M Korn, Steven A McCarroll, David A Altshuler, Daniel A Peiffer, Michael Dorschner, John Stamatoyannopoulos, David Schwartz, Deborah A Nickerson, James C Mullikin, Richard K Wilson, Laurakay Bruhn, Maynard V Olson, Rajinder Kaul, Douglas R Smith, Evan E Eichler (2008), "Mapping and sequencing of structural variation from eight human genomes", Nature, 453:56-64.
    [html]

  48. PM Kim, HY Lam, AE Urban, JO Korbel, X Chen, M Snyder, MB Gerstein (2008), "Analysis of copy number variants and segmental duplications in the human genome: evidence for a change in the process of formation in recent evolutionary history", Genome Research, to appear.

  49. TM Kim, YC Jung, MG Rhyu, MH Jung, YJ Chung (2008), "GEAR: genomic enrichment analysis of regional DNA copy number changes", Bioinformatics, 24(3):420-421.
    [abstract]

  50. C Klijn, H Holstege, J de Ridder, X Liu, M Reinders, J Jonkers, L Wessels (2008), "Identification of cancer genes using a statistical framework for multiexperiment analysis of nondiscretized array CGH data", Nucleic Acids Research, 36(2):e13-e13.
    [abstract]

  51. Joshua M Korn, Finny G Kuruvilla, Steven A McCarroll, Alec Wysoker, James Nemesh, Simon Cawley, Earl Hubbell, Jim Veitch, Patrick J Collins, Katayoon Darvishi, Charles Lee, Marcia M Nizzari, Stacey B Gabriel, Shaun Purcell, Mark J Daly, David Altshuler (2008), "Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs", Nature Genetics, 40:1253-1260.
    [ abstract]

  52. Herbert M Lachman, Oriana A Petruolo, Erika Pedrosa, Tomas Novak, Karen Nolan, Pavla Stopkova, (2008), "Analysis of protocadherin alpha gene deletion variant in bipolar disorder and schizophrenia", Psychiatric Genetics, 18(3):110-115.

  53. TL Lai, H Xing, N Zhang (2008), "Stochastic segmentation models for array-based comparative genomic hybridization data analysis", Biostatistics, 9(2):290-307.
    [abstract]

  54. W Lai, V Choudhary, P J Park (2008), "CGHweb: a tool for comparing DNA copy number segmentations from multiple algorithms", Bioinformatics, 24(7):1014-1015.
    [abstract]

  55. AS Lee, M Gutiérrez-Arcelus, GH Perry, EJ Vallender, WE Johnson, GM Miller, JO Korbel, C Lee (2008), "Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies", Human Molecular Genetics, 17(8):1127-1136.

  56. C Lee, CC Morton (2008), "Structural genomic variation and personalized medicine", New England Journal of Medicine, 358:740-741.
    [abstract]

  57. H Lee, SW Kong, PJ Park (2008), "Integrative analysis reveals the direct and indirect interactions between DNA copy number aberrations and gene expression changes", Bioinformatics, 24(7):889-896.
    [abstract]

  58. S Lee, S Kasif, Z Weng, CR Cantor (2008), "Quantitative analysis of single nucleotide polymorphisms within copy number variation", PLoS One, 3(12):e3906.

  59. Cheng Li, Rameen Beroukhim, Barbara A Weir, Wendy Winckler, Levi A Garraway, William R Sellers, Matthew Meyerson (2008), "Major copy proportion analysis of tumor samples using SNP arrays", BMC Bioinformatics, 9:204.
    [abstract]

  60. Chien-hsing Lin, Mei-chu Huang, Ling-hui Li, Jer-yuarn Wu, Yuan-tsong Chen, Cathy S.J. Fann (2008), "Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling", Human Mutation, to appear.
    [ abstract]

  61. GE Liu, CP Van Tassel, TS Sonstegard, RW Li, LJ Alexander, JW Keele, LK Matukumalli, TP Smith, LC Gasbarre (2008), "Detection of germline and somatic copy number variations in cattle", Developments in Biologicals, 132:231-237.

  62. John C Marioni, Michael White, Simon Tavaré, Andrew G Lynch (2008), "Hidden copy number variation in the HapMap population", Proceedings of National Academy of Sciences, 105:10067-10072.
    [ abstract]

  63. CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, R Moessner, D Pinto, Y Ren, B Thiruvahindrapduram, A Fiebig, S Schreiber, J Friedman, CE Ketelaars, YJ Vos, C Ficicioglu, S Kirkpatrick, R Nicolson, L Sloman, A Summers, CA Gibbons, A Teebi, D Chitayat, R Weksberg, A Thompson, C Vardy, V Crosbie, S Luscombe, R Baatjes, L Zwaigenbaum, W Roberts, B Fernandez, P Szatmari, SW Scherer (2008), "Structural variation of chromosomes in autism spectrum disorder", American Journal of Human Genetics, 82(2):477-488.
    [ abstract]

  64. Steven A McCarroll (2008), "Extending genome-wide association studies to copy-number variation", Human Molecular Genetics, 17:R135-R142.
    [abstract]

  65. Steven A McCarroll, Finny G Kuruvilla, Joshua M Korn, Simon Cawley, James Nemesh, Alec Wysoker, Michael H Shapero, Paul I W de Bakker, Julian B Maller, Andrew Kirby, Amanda L Elliott, Melissa Parkin, Earl Hubbell, Teresa Webster, Rui Mei, James Veitch, Patrick J Collins, Robert Handsaker, Steve Lincoln, Marcia Nizzari, John Blume, Keith W Jones, Rich Rava, Mark J Daly, Stacey B Gabriel, David Altshuler (2008), "Integrated detection and population-genetic analysis of SNPs and copy number variation", Nature Genetics, 40:1166-1174.
    [ abstract]

  66. Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie MHF Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi Park, Sarju G Mehta, Serena Nik-Zainal, C Geoffrey Woods, Helen V Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L Tolmie, Edward S Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire King, Regina Regan, Cindy Skinner, Roger E Stevenson, Stylianos E Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S Sutcliffe, Tom Walsh, Samantha JL Knight, Jonathan Sebat, Corrado Romano, Charles E Schwartz, Joris A Veltman, Bert de Vries, Joris R Vermeesch, John CK Barber, Lionel Willatt, May Tassabehji, Evan E Eichler (2008), "Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes", New England Journal of Medicine, 359(16):1685-1699.
    [abstract]

  67. JG Muller (2008), "Genomic structural variation and schizophrenia", Current Psychiatry Reports, 10(2):171-177
    [ abstract]

  68. Duc-Quang Nguyen, Caleb Webber, Jayne Hehir-Kwa, Rolph Pfundt, Joris Veltman, Chris P Ponting (2008), "Reduced purifying selection prevails over positive selection in human copy number variant evolution", Genome Research, to appear.
    [ abstract]

  69. S Parajes, C Quinteiro, F Domínguez, L Loidi (2008), "High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency", PLoS ONE, 3(5):e2138.

  70. GH Perry, A Ben-Dor, A Tsalenko, N Sampas, L Rodriguez-Revenga, CW Tran, A Scheffer, I Steinfeld, P Tsang, NA Yamada, HS Park, JI Kim, JS Seo, Z Yakhini, S Laderman, L Bruhn, C Lee (2008), "The fine-scale and complex architecture of human copy-number variation", American Journal of Human Genetics, 82(3):685-695.
    [ abstract]

  71. George H Perry, Fengtang Yang, Tomas Marques, Carly Murphy, Tomas Fitzgerald, Arthur S Lee, Courtney Hyland, Anne C. Stone, Matthew Hurles, Chris Tyler-Smith, Evan E. Eichler, Nigel P. Carter, Charles Lee, and Richard Redon (2008), "Copy number variation and evolution in humans and chimpanzees", Genome Research, to appear.
    [ abstract]

  72. A Piotrowski, CE Bruder, R Andersson, TD de Stahl, U Menzel, J Sandgren, A Poplawski, D von Tell, C Crasto, A Bogdan, R Bartoszewski, Z Bebok, M Krzyzanowski, Z Jankowski, EC Partridge, J Komorowski, JP Dumanski (2008), "Somatic mosaicism for copy number variation in differentiated human tissues", Human Mutation, to appear.

  73. R Pique-Regi, J Monso-Varona, A Ortega, R C Seeger, T J Triche, S Asgharzadeh (2008), "Sparse representation and Bayesian detection of genome copy number alterations from microarray data", Bioinformatics, 24(3):309-318.
    [abstract]

  74. TJ Pugh, AD Delaney, N Farnoud, S Flibotte, M Griffith, HI Li, H Qian, P Farinha, RD Gascoyne, MA Marra (2008), "Impact of whole genome amplification on analysis of copy number variants", Nucleic Acids Research, 36:e80.
    [ abstract]

  75. J Qin, R C Jones, and R Ramakrishnan (2008) "Studying copy number variations using a nanofluidic platform", Nucleic Acids Research, 36:e116.
    [ abstract]

  76. Nazli G Rahim, Olivier Harismendy, Eric J Topol, Kelly A Frazer (2008), "Genetic determinants of phenotypic diversity in humans", Genome Biology, 9:215.
    [abstract]

  77. F Rapaport, E Barillot, JP Vert (2008), "Classification of arrayCGH data using fused SVM", Bioinformatics, 24(13):i375-i382.

  78. C Rennie, HA Noyes, SJ Kemp, H Hulme, A Brass, DC Hoyle (2008), "Strong position-dependent effects of sequence mismatches on signal ratios measured using long oligonucleotide microarrays", BMC Genomics, 9(1):317.

  79. G Rigaill, P Hupe, A Almeida, P La Rosa, J-P Meyniel, C Decraene, E Barillot (2008), "ITALICS: an algorithm for normalization and DNA copy number calling for Affymetrix SNP arrays", Bioinformatics, 24(6):768-774.
    [abstract]

  80. Mathijs A Sanders, Roel GW Verhaak, Wendy MC Geertsma-Kleinekoort, Saman Abbas, Sebastiaan Horsman, Peter J van der Spek, Bob Löwenberg, Peter JM Valk (2008), "SNPExpress: integrated visualization of genome-wide genotypes, copy numbers and gene expression levels", BMC Genomics, 9:41.
    [html]

  81. I Scheinin, S Myllykangas, I Borze, T Bohling, S Knuutila, J Saharinen (2008), "CanGEM: mining gene copy number changes in cancerCanGEM: mining gene copy number changes in cancer", Nucleic Acids Research, 36(suppl 1):D830-D835.
    [abstract]

  82. SR Setlur, C Lee (2008), "Cellular impact of copy number variants (CNVs) leading to human disease susceptibility", Cell Sciences, 4:1-13.

  83. M Sengupta, A Ray, M Chaki, M Maulik, K Ray (2008), "SNPs in genes with copy number variation: A question of specificity", Journal of Genetics, 87(1):95-97.
    [PDF]

  84. AJ Sharp (2008), "Emerging themes and new challenges in defining the role of structural variation in human disease", Human Mutation, to appear.

  85. Xinwei She, Ze Cheng, Sebastian Zöllner, Deanna M Church, Evan E Eichler (2008), "Mouse segmental duplication and copy number variation", Nature Genetics, 40:909-914.
    [ abstract]

  86. F Shen, J Huang, KR Fitch, VB Truong, A Kirby, W Chen, J Zhang, G Liu, SA McCarroll, KW Jones, MH Shapero (2008), "Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes", BMC Genetics, 9(1):27.
    [abstract]

  87. M Shinawi, SW Cheung (2008), "The array CGH and its clinical applications", Drug Discovery Today, to appear.

  88. A Shirak, M Golik, BY Lee, AE Howe, TD Kocher, G Hulata, M Ron, E Seroussi (2008), "Copy number variation of lipocalin family genes for male-specific proteins in tilapia and its association with gender", Heredity, to appear.

  89. A Shlien, U Tabori, CR Marshall, M Pienkowska, L Feuk, A Novokmet, S Nanda, H Druker, SW Scherer, D Malkin (2008), "Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome", Proceedings of National Academy of Sciences, 105(32):11264-11269.

  90. J Staaf, J Vallon-Christersson, D Lindgren, G Juliusson, R Rosenquist, M Hoglund, A Borg, M Ringner (2008), "Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios", BMC Bioinformatics, 9(1):409.

  91. Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P. H. Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E. Buizer-Voskamp, Thomas Hansen, Klaus D. Jakobsen, Pierandrea Muglia, Clyde Francks, Paul M. Matthews, Arnaldur Gylfason, Bjarni V. Halldorsson, Daniel Gudbjartsson, Thorgeir E. Thorgeirsson, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Bjornsson, Sigurborg Mattiasdottir, Thorarinn Blondal, Magnus Haraldsson, Brynja B. Magnusdottir, Ina Giegling, Hans-Jürgen Möller, Annette Hartmann, Kevin V. Shianna, Dongliang Ge, Anna C. Need, Caroline Crombie, Gillian Fraser, Nicholas Walker, Jouko Lonnqvist, Jaana Suvisaari, Annamarie Tuulio-Henriksson, Tiina Paunio, Timi Toulopoulou, Elvira Bramon, Marta Di Forti, Robin Murray, Mirella Ruggeri, Evangelos Vassos, Sarah Tosato, Muriel Walshe, Tao Li, Catalina Vasilescu, Thomas W. Mühleisen, August G. Wang, Henrik Ullum, Srdjan Djurovic, Ingrid Melle, Jes Olesen, Lambertus A. Kiemeney, Barbara Franke, GROUP, Chiara Sabatti, Nelson B. Freimer, Jeffrey R. Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Ole A. Andreassen, Roel A. Ophoff, Alexander Georgi, Marcella Rietschel, Thomas Werge, Hannes Petursson, David B. Goldstein, Markus M. Nöthen, Leena Peltonen, David A. Collier, David St Clair, Kari Stefansson, René S. Kahn, Don H. Linszen, Jim van Os, Durk Wiersma, Richard Bruggeman, Wiepke Cahn, Lieuwe de Haan, Lydia Krabbendam, Inez Myin-Germeys for Genetic Risk and Outcome in Psychosis (GROUP) (2008), "Large recurrent microdeletions associated with schizophrenia", Nature, 455:232-236.
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