At Illumina, we enjoy seeing how researchers are successfully using our products for a wide range of genetic analysis applications. We are proud to share this list of publications from the growing community of Illumina customers, collaborators, and internal scientists. If we missed one, please send the citation to publications@illumina.com.
| Title | Authors | Source | Year |
| Homozygous mutations in the 5 region of the JUP gene result in cutaneous disease but normal heart development in children. | Rita M Cabral, Lu Liu, Carol Hogan, Patricia J C Dopping-Hepenstal, Beatriz C Winik, Ra?l A Asial, Richard Dobson, Charles A Mein, Patricia A Baselaga, Jemima E Mellerio, Arti Nanda, Maria del Carmen Boente, David P Kelsell, John A McGrath, Andrew P South | J Invest Dermatol 130 1543-50 | 2010 |
| Principles and challenges of genome-wide DNA methylation analysis. | Peter W Laird | Nat Rev Genet 11 191-203 | 2010 |
| Prostate cancer genes associated with TMPRSS2-ERG gene fusion and prognostic of biochemical recurrence in multiple cohorts. | B G Barwick, M Abramovitz, M Kodani, C S Moreno, R Nam, W Tang, M Bouzyk, A Seth, B Leyland-Jones | Br J Cancer 102 570-6 | 2010 |
| Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? | Feng Li, Yiping Shen, Udo K?hler, Freddie H Sharkey, Deepa Menon, Laurence Coulleaux, Val?rie Malan, Marl?ne Rio, Dominic J McMullan, H Cox, Kerry A Fagan, Lorraine Gaunt, Kay Metcalfe, Uwe Heinrich, Gordon Hislop, Una Maye, Maxine Sutcliffe, Bai-Lin Wu, Brian D Thiel, Surabhi Mulchandani, Laura K Conlin, Nancy B Spinner, Kathleen M Murphy, Denise A S Batista | Eur J Med Genet 53 93-9 | |
| Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. | Cheryl Descipio, Jennifer D Morrissette, Laura K Conlin, Dinah Clark, Maninder Kaur, James Coplan, Harold Riethman, Nancy B Spinner, Ian D Krantz | Am J Med Genet A 152A 373-82 | 2010 |
| Hot topic: a unified approach to utilize phenotypic, full pedigree, and genomic information for genetic evaluation of Holstein final score. | I Aguilar, I Misztal, D L Johnson, A Legarra, S Tsuruta, T J Lawlor | J Dairy Sci 93 743-52 | 2010 |
| Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. | Biola M Javierre, Agustin F Fernandez, Julia Richter, Fatima Al-Shahrour, J Ignacio Martin-Subero, Javier Rodriguez-Ubreva, Maria Berdasco, Mario F Fraga, Terrance P OHanlon, Lisa G Rider, Filipe V Jacinto, F Javier Lopez-Longo, Joaquin Dopazo, Marta Forn, Miguel A Peinado, Luis Carreño, Amr H Sawalha, John B Harley, Reiner Siebert, Manel Esteller, Frederick W Miller, Esteban Ballestar | Genome Res 20 170-9 | 2010 |
| Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. | Laura K Conlin, Brian D Thiel, Carsten G Bonnemann, Livija Medne, Linda M Ernst, Elaine H Zackai, Matthew A Deardorff, Ian D Krantz, Hakon Hakonarson, Nancy B Spinner | Hum Mol Genet 19 1263-75 | 2010 |
| Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. | Demetris Pillas, Clive J Hoggart, David M Evans, Paul F OReilly, Kirsi Sipil?, Raija L?hdesm?ki, Iona Y Millwood, Marika Kaakinen, Gopalakrishnan Netuveli, David Blane, Pimphen Charoen, Ulla Sovio, Anneli Pouta, Nelson Freimer, Anna-Liisa Hartikainen, Jaana Laitinen, Sarianna Vaara, Beate Glaser, Peter Crawford, Nicholas J Timpson, Susan M Ring, Guohong Deng, Weihua Zhang, Mark I McCarthy, Panos Deloukas, Leena Peltonen, Paul Elliott, Lachlan J M Coin, George Davey Smith, Marjo-Riitta Jarvelin | PLoS Genet 6 e1000856 | 2010 |
| Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. | Neuroimage | 2010 | |
| Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. | D S Johnson, G Gemelos, J Baner, A Ryan, C Cinnioglu, M Banjevic, R Ross, M Alper, B Barrett, J Frederick, D Potter, B Behr, M Rabinowitz | Hum Reprod 25 1066-75 | 2010 |
| Tracking footprints of artificial selection in the dog genome. | Joshua M Akey, Alison L Ruhe, Dayna T Akey, Aaron K Wong, Caitlin F Connelly, Jennifer Madeoy, Thomas J Nicholas, Mark W Neff | Proc Natl Acad Sci U S A 107 1160-5 | 2010 |
| The genetic map of Artemisia annua L. identifies loci affecting yield of the antimalarial drug artemisinin. | Ian A Graham, Katrin Besser, Susan Blumer, Caroline A Branigan, Tomasz Czechowski, Luisa Elias, Inna Guterman, David Harvey, Peter G Isaac, Awais M Khan, Tony R Larson, Yi Li, Tanya Pawson, Teresa Penfield, Anne M Rae, Deborah A Rathbone, Sonja Reid, Joe Ross, Margaret F Smallwood, Vincent Segura, Theresa Townsend, Darshna Vyas, Thilo Winzer, Dianna Bowles | Science 327 328-31 | 2010 |
| Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. | Markus Draaken, Heiko Reutter, Charlotte Schramm, Enrika Bartels, Thomas M Boemers, Anne-Karoline Ebert, Wolfgang R?sch, Annette Schr?der, Raimund Stein, Susanne Moebus, Dietlinde Stienen, Per Hoffmann, Markus M N?then, Michael Ludwig | Eur J Med Genet 53 55-60 | |
| Genetic polymorphism and response to treatment in chronic hepatitis C: The future of personalized medicine. | Tarik Asselah | J Hepatol 52 452-454 | 2010 |