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
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464 713-20 2010
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
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
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
Malignant precursor cells pre-exist in human breast DCIS and require autophagy for survival. Virginia Espina, Brian D Mariani, Rosa I Gallagher, Khoa Tran, Stacey Banks, Joy Wiedemann, Heather Huryk, Claudius Mueller, Luana Adamo, Jianghong Deng, Emanuel F Petricoin, Lucia Pastore, Syed Zaman, Geetha Menezes, James Mize, Jasbir Johal, Kirsten Edmiston, Lance A Liotta PLoS One 5 e10240 2010
Diploid spermatozoa caused by failure of the second meiotic division in a bull. T Revay, C Kopp, A Flyckt, J Taponen, R Ijäs, S Nagy, A Kovacs, W Rens, D Rath, A Hidas, J F Taylor, M Andersson Theriogenology 73 421-428 2010
Genome-wide profiling of chromosomal alterations in renal cell carcinoma using high-density single nucleotide polymorphism arrays. Meng Chen, Yuanqing Ye, Hushan Yang, Pheroze Tamboli, Surena Matin, Nizar M Tannir, Christopher G Wood, Jian Gu, Xifeng Wu Int J Cancer 125 2342-8 2009
Karyomapping: a Universal Method for Genome Wide Analysis of Genetic Disease based on Mapping Crossovers between Parental Haplotypes. Alan H Handyside, Gary L Harton, Brian Mariani, Alan R Thornhill, Nabeel A Affara, Marie-Anne Shaw, Darren K Griffin J Med Genet 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Bregje W M van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert B A de Vries Eur J Hum Genet 18 163-70 2010
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Tamim H Shaikh, Xiaowu Gai, Juan C Perin, Joseph T Glessner, Hongbo Xie, Kevin Murphy, Ryan OHara, Tracy Casalunovo, Laura K Conlin, Monica DArcy, Edward C Frackelton, Elizabeth A Geiger, Chad Haldeman-Englert, Marcin Imielinski, Cecilia E Kim, Livija Medne, Kiran Annaiah, Jonathan P Bradfield, Elvira Dabaghyan, Andrew Eckert, Chioma C Onyiah, Svetlana Ostapenko, F George Otieno, Erin Santa, Julie L Shaner, Robert Skraban, Ryan M Smith, Josephine Elia, Elizabeth Goldmuntz, Nancy B Spinner, Elaine H Zackai, Rosetta M Chiavacci, Robert Grundmeier, Eric F Rappaport, Struan F A Grant, Peter S White, Hakon Hakonarson Genome Res 19 1682-90 2009
Integrated study of copy number states and genotype calls using high-density SNP arrays. Summary Wei Sun, Fred A Wright, Zhengzheng Tang, Silje H Nordgard, Peter Van Loo, Tianwei Yu, Vessela N Kristensen, Charles M Perou Nucleic Acids Res 37 5365-77 2009
Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays. Summary Marie-Paule Beaujard, Sandra Chantot, Michèle Dubois, Boris Keren, Wassila Carpentier, Philippe Mabboux, Sandra Whalen, Michel Vodovar, Jean-Pierre Siffroi, Marie-France Portnoï Eur J Med Genet 52 321-7
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Summary Siân Jones, Ralph H Hruban, Mihoko Kamiyama, Michael Borges, Xiaosong Zhang, D Williams Parsons, Jimmy Cheng-Ho Lin, Emily Palmisano, Kieran Brune, Elizabeth M Jaffee, Christine A Iacobuzio-Donahue, Anirban Maitra, Giovanni Parmigiani, Scott E Kern, Victor E Velculescu, Kenneth W Kinzler, Bert Vogelstein, James R Eshleman, Michael Goggins, Alison P Klein Science 324 217 2009
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Summary Binita M Kamath, Brian D Thiel, Xiaowu Gai, Laura K Conlin, Pedro S Munoz, Joseph Glessner, Dinah Clark, Daniel M Warthen, Tamim H Shaikh, Ercan Mihci, David A Piccoli, Struan F A Grant, Hakon Hakonarson, Ian D Krantz, Nancy B Spinner Hum Mutat 30 371-8 2009
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares, Luis García-Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina BMC Med Genet 10 48 2009
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