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
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Tom Walsh, Ming K Lee, Silvia Casadei, Anne M Thornton, Sunday M Stray, Christopher Pennil, Alex S Nord, Jessica B Mandell, Elizabeth M Swisher, Mary-Claire King Proc Natl Acad Sci U S A 107 12629-33 2010
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens. Henry M Wood, Ornella Belvedere, Caroline Conway, Catherine Daly, Rebecca Chalkley, Melissa Bickerdike, Claire McKinley, Phil Egan, Lisa Ross, Bruce Hayward, Joanne Morgan, Leslie Davidson, Ken Maclennan, Thian K Ong, Kostas Papagiannopoulos, Ian Cook, David J Adams, Graham R Taylor, Pamela Rabbitts Nucleic Acids Res 38 e151 2010
Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform. Daniel Summerer, Nadine Schracke, Haiguo Wu, Yang Cheng, Stephan Bau, Cord F St?hler, Peer F St?hler, Markus Beier Genomics 95 241-6 2010
Genetic diagnosis of familial breast cancer using clonal sequencing. Joanne E Morgan, Ian M Carr, Eamonn Sheridan, Carol E Chu, Bruce Hayward, Nick Camm, Helen A Lindsay, Chris J Mattocks, Alexander F Markham, David T Bonthron, Graham R Taylor Hum Mutat 31 484-91 2010
Identification of MIR390a precursor processing-defective mutants in Arabidopsis by direct genome sequencing. Josh T Cuperus, Taiowa A Montgomery, Noah Fahlgren, Russell T Burke, Tiffany Townsend, Christopher M Sullivan, James C Carrington Proc Natl Acad Sci U S A 107 466-71 2010
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J Hannon, Alan L Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg Am J Hum Genet 86 93-7 2010
Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. Scot J Matkovich, Derek J Van Booven, Anna Hindes, Min Young Kang, Todd E Druley, Francesco L M Vallania, Robi D Mitra, Muredach P Reilly, Thomas P Cappola, Gerald W Dorn J Clin Invest 120 280-9 2010
Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting. Juan Manuel Rosa-Rosa, Francisco Javier Gracia-Azn?rez, Emily Hodges, Guillermo Pita, Michelle Rooks, Zhenyu Xuan, Arindam Bhattacharjee, Leonardo Brizuela, Jos? M Silva, Gregory J Hannon, Javier Benitez PLoS One 5 e9976 2010
Simultaneous assay of every Salmonella Typhi gene using one million transposon mutants. Gemma C Langridge, Minh-Duy Phan, Daniel J Turner, Timothy T Perkins, Leopold Parts, Jana Haase, Ian Charles, Duncan J Maskell, Sarah E Peters, Gordon Dougan, John Wain, Julian Parkhill, A Keith Turner Genome Res 19 2308-16 2009
MEK1 mutations confer resistance to MEK and B-RAF inhibition. Caroline M Emery, Krishna G Vijayendran, Marie C Zipser, Allison M Sawyer, Lili Niu, Jessica J Kim, Charles Hatton, Rajiv Chopra, Patrick A Oberholzer, Maria B Karpova, Laura E MacConaill, Jianming Zhang, Nathanael S Gray, William R Sellers, Reinhard Dummer, Levi A Garraway Proc Natl Acad Sci U S A 106 20411-6 2009
Exome sequencing identifies the cause of a mendelian disorder. Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson, Jay Shendure, Michael J Bamshad Nat Genet 42 30-5 2010
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Murim Choi, Ute I Scholl, Weizhen Ji, Tiewen Liu, Irina R Tikhonova, Paul Zumbo, Ahmet Nayir, Aysin Bakkaloglu, Seza Ozen, Sami Sanjad, Carol Nelson-Williams, Anita Farhi, Shrikant Mane, Richard P Lifton Proc Natl Acad Sci U S A 106 19096-101 2009
Genotype analysis identifies the cause of the "royal disease". Evgeny I Rogaev, Anastasia P Grigorenko, Gulnaz Faskhutdinova, Ellen L W Kittler, Yuri K Moliaka Science 326 817 2009
Identification of NbME MITE families: potential molecular markers in the microsporidia Nosema bombycis. Jinshan Xu, Min Wang, Xiaoyan Zhang, Fahui Tang, Guoqing Pan, Zeyang Zhou J Invertebr Pathol 103 48-52 2010
Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels. Ian Sudbery, Jim Stalker, Jared Simpson, Thomas Keane, Alistair Rust, Matthew Hurles, Klaudia Walter, Dee Lynch, Lydia Teboul, Steve Brown, Heng Li, Zemin Ning, Joseph Nadeau, Colleen Croniger, Richard Durbin, David Adams Genome Biol 10 R112 2009
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