Conferences and Papers

Clinical Findings for Mutation Detection in Genetic Diseases | Reports on Variant Detection and Mutation Analysis in Oncology Studies | SNP Discovery in the Human Genome 

Where we are demonstrating: If you are attending any of the following conferences please plan on stopping by or booth to learn more about how our technology can assist in your research:

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Clinical Findings for Mutation Detection in Genetic Diseases

1 . Sergey Shulenin, PhD., Lawrence M. Nogee, M.D., Tarmo Annilo, Ph.D., Susan E. Wert, Ph.D., Jeffrey A. Whitsett, M.D. and Michael Dean, Ph.D. (2004) ABCA3 Gene Mutations in Newborns with Fatal Surfactant Deficiency. The NEW ENGLAND JOURNAL of MEDICINE, 350:1296-303.

2. MT Landi, AM Goldstein, S Tsang, D. Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats, R Agatep, D Hogg, D Calista Genetic susceptibility in familial melanoma from northeastern ItalyJ Medical Genetics 2004:41 557-566.

3. Anthony J. Aldave, Vivek S. Yallore, Alexandxre H. Principe, Gelareh Abedi, Kevin Merrill, Meenal Cahlukya, Kent W. Small, Nitin Udar. Candidate Gene Screening for Posterior Polymorphous Dystrophy. Cornea, Volume 24, Number 2, March 2005.

4. R.E. Amir, P. Fang, Z. Yu, D.G. Glaze, A.K. Percy, H.Y. Zoghbi, B.B. Roa, I.B. Van den Veyver. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. Journal of Medical Genetics 2005; 42:e15.

5. Rosenberg EH. Almeida LS. Kleefstra T. deGrauw RS. Yntema HG. Bahi N. Moraine C. Ropers HH. Fryns JP. deGrauw TJ. Jakobs C. Salomons GS. High prevalence of SLC6A8 deficiency in X-linked mental retardation. American Journal of Human Genetics. 75(1):97-105, 2004 July.

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Reports on Variant Detection and Mutation Analysis in Oncology Studies

1 . Jingrui Jiang, J. Guillermo Paez, Jeffrey C, Lee, Ronghai Bo, Richard M. Stone, Daniel J.DeAngelo, Ilene Galinsky, Brian M. Wolpin, Anna Jonasova, Paula Herman, Edward A Fox, Titus J. Boggon, Michael J. Eck, Ellen Weisberg, James D Griffin, D. Gary Gilliland, Matthew Meyerson, William R. Sellers. (2004) Identification and Characterization of a Novel Activating Mutation of the FLT3 tyrosine kinase in AML. Blood, 2004-02-0712.

2 . Abstract: Samuels et al.High Frequency of Mutations of the PIK3CA Gene in Human Cancers, SCIENCE 11 Mar 2004 0: 10965021-0
http://www.sciencemag.org/cgi/content/abstract/1096502v1

3. Mutational Analysis of the Tyrosine Kinome in Colorectal Cancers
Alberto J. Bardelli, D. Williams Parsons, Natalie Silliman, Janine Ptak, Steve Szabo, Saurabh Saha, Sandford Markowitz, James K.V. Willson, Giovanni Parmigiani, Kenneth W. Kinzler, Bert Vogelstein, Victor Velculescu
SCIENCE, VOL 300 9 May 2003

4. Paez JG, Janne PA, Lee JC, Tracy S, Greulich H, Gabriel S, Herman P, Kaye FJ, Lindeman N, Boggon TJ, Naoki K, Sasaki H, Fujii Y, Eck MJ, Sellers WR, Johnson BE, Meyerson M. 2004. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy.Science. 304(5676):1497-500.

5. Wang Z, Shen D, Parsons DW, Bardelli A, Sager J, Szabo S, Ptak J, Silliman N, Peters BA, van der Heijden MS, Parmigiani G, Yan H, Wang TL, Riggins G, Powell SM, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE. 2004. Mutational analysis of the tyrosine phosphatome in colorectal cancers.Science. 2004 304(5674):

6 . Rajagopalan H, Jallepalli PV, Rago C, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C. 2004. Inactivation of hCDC4 can cause chromosomal instability. Nature. 428(6978):77-81.

7. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. 2002 Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.Nature. 29;418(6901):934.

8. Mohamed Bentires-Alf, J. Guillermo Paez, Frank S. David, Heike Keilhack, Balazs Halmos, Katsuhiko Naoki, John M. Maris, Andrea Richardson, Alberto Bardelli, David J. Sugarbaker, William G. Richards, Jinyan Du, Luc Girard, John D. Minna, Mignon L. Loh, David E. Fisher, Victor E. Velculescu, Bert Vogelstein, Matthew Meyerson, William R. Sellers, Benjamin G. Neel. Activating Mutations of the Noonan Syndrome-Associated SHP2/PTPNII Gene in Human Solid Tumors and Adult Acute Myelogenous Leukemia. Cancer Research 64, 8816-8820, December 15, 2004.

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SNP Discovery in the Human Genome

1 . J. Guillermo Paez, Ming Lin, Rameen Beroukhim, Jeffrey C. Lee, Xiaojun Zhao, Daniel J. Richter, Stacey Gabriel, Paula Herman, Hidefumi Sasaki,David Altshuler, Cheng Li, Matthew Meyerson and William R. Sellers (2004) Genome coverage and sequence fidelity of ø29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Research, Vol. 32 No 9. Oxford University Press

2. Hossein Fakhrai-Rad, Jianbia Zheng, Thomas D. Willis, Kee Wong, Kent Suyenaga, Martin Moorhead, Jim Eberle, Yvonne R. Thorstenson, Ted Jones, Ronald W. Davis, Eugen Namsaraev and Malek Faham. (2004) SNP Discovery in Pooled Samples With Mismatch Repair Detection. Genome Research, 14:1404-1412

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