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
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
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
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first. Summary Antoinet Cj Gijsbers, Janet Yk Lew, Cathy Aj Bosch, Janneke Hm Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S den Hollander, Sarina G Kant, Emilia K Bijlsma, Martijn H Breuning, Egbert Bakker, Claudia Al Ruivenkamp Eur J Hum Genet 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
Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Angela J Sievert, Eric M Jackson, Xiaowu Gai, Hakon Hakonarson, Alexander R Judkins, Adam C Resnick, Leslie N Sutton, Phillip B Storm, Tamim H Shaikh, Jaclyn A Biegel Brain Pathol 19 449-58 2009
Genomic profiling of 766 cancer-related genes in archived esophageal normal and carcinoma tissues. Jing Chen, Liping Guo, Daniel A Peiffer, Lixin Zhou, Owen Tsan Mo Chan, Marina Bibikova, Eliza Wickham-Garcia, Shih-Hsin Lu, Qimin Zhan, Jessica Wang-Rodriguez, Wei Jiang, Jian-Bing Fan Int J Cancer 122 2249-54 2008