Fluidigm plateform

Targeted sequencing

 Fanconi’s anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing. Tan IB, Cutcutache I, Zang ZJ, Iqbal J, Yap SF, Hwang W, Lim WT, Teh BT, Rozen S, Tan EH, Tan P. J Clin Oncol. 2011 Jul 10;29(20):e591-4. PMID: 21519011

 Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing. Forshew, T., Murtaza, M., Parkinson, C., Gale, D., Tsui, D.W.Y., Kaper, F., Dawson, S.J., Piskorz, A.M., Jimenez-Linan, M., Bentley, D., Hadfield, J., May, A.P., Caldas, C., Brenton, J.D., Rosenfeld, N. Science Translational Medicine May 31, 2012.

 Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proceedings of the National Academy of Sciences. Lohr, J.G., Golub, T.R., et al. February 17, 2012.

 Hollants,S., Redeker, E.J.W., Matthijs, G. January 31, 2012. Microfluidic Amplification as a Tool for Massive Parallel Sequencing of Familial Hypercholesterolemia Genes. The American Association for Clinical Chemistry

 Mertes, F., ElSharawy, A., Sauer, S., an Helvoort, J., van der Zaag, P.J., Franke, A., Nilsson, M., Lehrach H., Brookes, A.J. November 26, 2011. Targeted enrichment of genomic DNA regions for next-generation sequencing. Oxford Journals, Briefings in Functional Genomics

 Zernant, J., Schubert, C., Im, K.M., Burke, T., Brown, C.M., Fishman, G.A., Tsang, S.H., Gouras, P., Dean, M., Allikmets, R. September 12, 2011. Analysis of the ABCA4 gene by next-generation sequencing. IOVS Investigative Ophthalmology & Visual Science

 Schlipf, N.A., Schule, R., Klimpe, S., Karle, K.N., Synofzik, M., Schicks, J., Riessa, O., Schols, L., Bauer, P. June 13, 2011. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clinical Genetics

 Bybee, S.M., Bracken-Grissom, H., Haynes, B.D., Hermansen, R.A., Byers, R.L., Clement, M.J., Udall, J.A., Wilcox, E.R., Crandall, K.A. October 13, 2011. Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics. Genome Biology and Evolution

 Etienne Paux, E., Sourdille, P., Mackay, I., Feuillet, C. October 1, 2011. Sequence-based marker development in wheat: Advances and applications to breeding. Biotechnology Advances

 Grossmann, V., Kohlman, A., Eder, C., Haferlach, C., Kern, W., Cross, N.C., Haferlach, T., Schnittger, S. February 22, 2011. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia

 Zhang, J., Chiodini, R., Badr, A., Zhang, G. January 18, 2011. The impact of next-generation sequencing on genomics. Journal of Genetics and Genomics

 Voelkerding, K.V., Dames, S., and Durtschi, J.D. September 5, 2010. Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy. Journal of Molecular Diagnostics