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
Population analysis of large copy number variants and hotspots of human genetic disease. Andy Itsara, Gregory M Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M Krauss, Richard M Myers, Paul M Ridker, Daniel I Chasman, Heather Mefford, Phyllis Ying, Deborah A Nickerson, Evan E Eichler Am J Hum Genet 84 148-61 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
The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. Louise V Wain, Inti Pedroso, John E Landers, Gerome Breen, Christopher E Shaw, P Nigel Leigh, Robert H Brown, Martin D Tobin, Ammar Al-Chalabi PLoS One 4 e8175 2009
Genomic copy number and expression variation within the C57BL/6J inbred mouse strain. Dawn E Watkins-Chow, William J Pavan Genome Res 18 60-6 2008
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Javier Simon-Sanchez, Sonja Scholz, Hon-Chung Fung, Mar Matarin, Dena Hernandez, J Raphael Gibbs, Angela Britton, Fabienne Wavrant de Vrieze, Elizabeth Peckham, Katrina Gwinn-Hardy, Anthony Crawley, Judith C Keen, Josefina Nash, Digamber Borgaonkar, John Hardy, Andrew Singleton Hum Mol Genet 16 1-14 2007
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