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Conferences and Papers




We are pleased and proud that leading researchers over the world
choose our analytical tools to insure the accuracy of their research:

Mutation Surveyor and Mutation Explorer citations.

GeneMarker citations. NextGENe citations.

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.

 


 

DATE

CONFERENCE

LOCATION

BOOTH

Jan. 9-13

Plant Animal Genome Conference

San Diego, CA

518

March 20-23

Association of Biomolecular Resource Facilities

Sacramentio, CA

 

March 24-28

American College of Medical Genetics

Albuqurque, NM

 

June 12-15

European Society of Human Genetics

Gothenburg, Sweden

 

Aug. 3-6

Mutation Detection

Tasmania, Australia

 

Nov. 2-6

American Society of Human Genetics

Washington, DC

 

Nov. 17-20

Association of Molecular Pathology

San Jose, CA

 

 

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Citations of SoftGenetics Mutation Surveyor and Mutation Explorer.

2009

  1. Chong D. 2009 Simultaneous mutation detection of three homoeologous genes in wheat by High Resolution Melting analysis and Mutation Surveyor^® *. /BMC Plant Biology/*, *9:*143. doi:10.1186/1471-2229-9-143

2007

  1. Timothy M. Frayling, Nicholas J. Timpson, Michael N. Weedon, Eleftheria Zeggini, Rachel M. Freathy, Cecilia M. Lindgren, John R. B. Perry, Katherine S. Elliott, Hana Lango, Nigel W. Rayner, Beverley Shields, Lorna W. Harries, Jeffrey C. Barrett, Sian Ellard, Christopher J. Groves, Bridget Knight, Ann-Marie Patch, Andrew R. Ness, Shah Ebrahim, Debbie A. Lawlor, Susan M. Ring, Yoav Ben-Shlomo, Marjo-Riitta Jarvelin, Ulla Sovio, Amanda J. Bennett, David Melzer, Luigi Ferrucci, Ruth J. F. Loos, In?s Barroso, Nicholas J. Wareham, Fredrik Karpe, Katharine R. Owen, Lon R. Cardon, Mark Walker, Graham A. Hitman, Colin N. A. Palmer, Alex S. F. Doney, Andrew D. Morris, George Davey-Smith, Andrew T. Hattersley, Mark I. McCarthy. A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity. Science, 2007, April 12.
  2. Wee J. Chng;, Lawrence A. Loeb, Jason H. Bielas;, Bernard S. Strauss;, Tobias Sjöblom, Siân Jones, Laura D. Wood, D. Williams Parsons, Jimmy Lin, Thomas Barber, Diana Mandelker, Rebecca J. Leary, Janine Ptak, Natalie Silliman, Steve Szabo, Phillip Buckhaults, Christopher Farrell, Paul Meeh, Sanford D. Markowitz, Joseph Willis, Dawn Dawson, James K V. Willson, Adi F. Gazdar, James Hartigan, Leo Wu, Changsheng Liu, Giovanni Parmigiani, Ben Ho Park, Kurtis E. Bachman, Nickolas Papadopoulos, Bert Vogelstein, Kenneth W. Kinzler, and Victor E. Velculescu. Limits to the Human Cancer Genome Project? Science, 2007, 315: 762-766.
  3. Sangkyou Lee, Joon Jeong, Tadeusz Majewski, Steven E. Scherer, Mi-Sook Kim, Tomasz Tuziak, Kuang S. Tang, Keith Baggerly, Herbert Barton Grossman, Jain-Hua Zhou, Lanlan Shen, Jolanta Bondaruk, Saira S. Ahmed, Susmita Samanta, Philippe Spiess, Xifeng Wu, Slawomir Filipek, David McConkey, Menashe Bar-Eli, Jean-Pierre Issa, William F. Benedict, and Bogdan Czerniak. Forerunner genes contiguous to RB1 contribute to the development of in situ neoplasia. PNAS, 2007 Aug; doi: 10.1073/ pnas.0701771104.
  4. Juraj Stanik, Daniela Gasperikova, Magdalena Paskova, Lubomir Barak, Jana Javorkova, Emilia Jancova, Miriam Ciljakova, Peter Hlava, Jozef Michalek, Sarah E. Flanagan, Ewan Pearson, Andrew T. Hattersley, Sian Ellard and Iwar Klimes. Prevalence of permanent neonatal diabetes in slovakia and successful replacement of insulin. Journal of Clinical Endocrinology & Metabolism, 2007; 92(4), 1276-1282.
  5. WS Oetting. The 2006 Human Genome Variation Society scientific meeting. Human Mutation 2007; 28(5), 517-521.
  6. Rodrigo A. Toledo, Delmar M. Lourenco Jr, Flavia L. Coutinho, Elisangela Quedas, Ivone Mackowiack,Marcel C. C. Machado, Fabio Montenegro, Malebranche B. C. Cunha-Neto, Bernardo Liberman, Maria A. A. Pereira, Pedro H. S. Correa and Sergio P. A. Toledo. Novel MEN1 germline mutations in Brazilian families with Multiple endocrine neoplasia type. Clinical Endocrinology, 2007, June 06.
  7. E John. Major, Genomic Mutation Consequence Calculator. Bioinformatics, 2007; June 28.
  8. GS Sellick, M Qureshi, S Fielding, D Catovsky, RS, Germline mutations in SPI1 and MADD do not contribute to familial chronic lymphocytic leukaemia. Leukemia, 2007, 21(6): 1315-8
  9. M Mitchell, HL Fields, RL White, TM Meadoff,TM Meadoff,; G Joslyn; MC Rowbotham, The Asp 40 µ-opioid receptor allele does not predict naltrexone treatment efficacy in heavy drinkers, Journal of Clinical Psychopharmacology. 2007, 27(1): 112-114,.
  10. GT Powell, H Yang, C Tyler-Smith, Y Xue, SC Tyler. The population history of the Xibe in northern China: a comparison of autosomal, mtDNA and Y-chromosomal analyses of migration and gene flow. Forensic Science International: Genetics, 2007; 1:115-119.
  11. SH Korman, C Jakobs, PS Darmin, A Gutman, MS van ,Z Ben, I Dweikat, ID. Wexler and GS. Salomons. Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel. European Journal of Paediatric Neurology, 2007, 11(2):81-89
  12. MB Consugar, VJ Kubly, DJ Lager, CJ Hommerding, WC wong, E Bakker, VH Gattone, VE Torres, MH Breuning, PC Harris. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Human genetic. 2007; 121(5):591-9.
  13. A Balakrishnan, EF. Bleeker, S Lamba, M Rodolfo, M Daniotti, A Scarpa, AA. van Tilborg, S Leenstra, C Zanon and A Bardelli ; Novel Somatic and Germline Mutations in Cancer Candidate Genes in Glioblastoma, Melanoma, and Pancreatic Carcinoma. Cancer Research, 2007, 67: 3545-3550.
  14. O'Toole, John; Otto, Edgar; Hoefele, Julia; Helou, Juliana; Hildebrandt, Friedhelm. Mutational analysis in 119 families with nephronophthisis; Pediatric Nephrology, 2007, 22(3): 366-370.
  15. FR Hirsch, M Varella-Garcia, F Cappuzzo, J McCoy, L Bemis, AC Xavier, R Dziadziuszko, P Gumerlock, K Chansky, H West, AF Gazdar, L Crino, DR Gandara, WA Franklin and PA Bunn, Jr; Combination of EGFR gene copy number and protein expression predicts outcome for advanced non-small-cell lung cancer patients treated with gefitinib. Annals of oncology. 2007, 18(4): 752-760.
  16. G Salomons,C Jakobs; L Pope; A Errami; M Potter; M Nowaczyk; S Olpin; N Manning; J Raiman; T Slade; M Champion; D Peck; D Gavrilov; R Hillman; G Hoganson; K Donaldson; J Shield; D Ketteridge; M Wasserstein; K Gibson; Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency; Journal of inherited metabolic disease ; 2007, 30(1): 23-28.
  17. WK Scott, S Schmidt, MA Hauser, P Gallins, N Schnetz-Boutaud KL Spencer, JR Gilbert, A Agarwal, EA Postel, JL Haines, MA Pericak-Vance; Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular egeneration. Ophthalmology. 2007, 114(6): 1151-6.
  18. AJ. Aldave , B Sonmez , N Bourla , G Schultz, JC. Papp ; AK. Salem ; S A. Rayner ; VS. Yellore ; Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2; Ophthalmic Genetics. 2007, 28(2): 57 – 67.
  19. SC Collins, J Luan, AJ Thompson, A Daly, RK Semple, S O'rahilly, NJ Wareham, I Barroso. Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations. Diabetologia, 2007, 50(3): 555-62.
  20. D Oglesbee , M He , N Majumder , J Vockley , A Ahmad , B Angle , B Burton , J Charrow , R Ensenauer , C Ficicioglu , L Keppen , D Marsden , S Tortorelli , S Hahn , D Matern. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genetics in Medicine. 2007, 9(2): 108-116.
  21. S Tompson, V Ruiz-Perez, H Blair; S Barton, V Navarro, J Robson, M Wright; J Goodship. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Human Genetics. 2007; 1205): 663-670.
  22. J Cotignola, B Reva, N Mitra, N Ishill, S Chuai, A Patel , S Shah , G Vanderbeek , D Coit , K Busam , A Halpern , A Houghton , C Sander , M Berwick , I Orlow. Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. BMC Medical Genetics. 2007, 8(1): 10.
  23. Catherine Heddle and Sabine L. Mazaleyrat. Development of a screening platform for directed evolution using the reef coral fluorescent protein ZsGreen as a solubility reporter. Protein Engineering, Design and Selection. 2007, June.
  24. Vivek Yellore, Jeanette Papp, Eric Sobel, Ali Khan, Sylvia Rayner, Debora Farber, Anthony Aldave. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genetics in Medicine. 2007, 9(4):228-234.
  25. Marjo van Puijenbroek, Maartje Nielsen, Tjitske H. C. M. Reinards, Marjan M. Weiss, Anja Wagner, Yvonne M. C. Hendriks, Hans F. A. Vasen, Carli M. J. Tops, Juul Wijnen, Tom van Wezel, Frederik J. Hes and Hans Morreau. The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family. Familial Cancer, 2007, 6(1): 43-51.
  26. Ilir Agalliu, Erika M. Kwon, Daniel Zadory, Laura McIntosh, Joseph Thompson, Janet L. Stanford and Elaine A. Ostrander. Germline Mutations in the BRCA2 Gene and Susceptibility to Hereditary Prostate Cancer. Clinical Cancer Research, 2007, 13: 839-843.
  27. Ken Chen, Michael D. McLellan, Li Ding, Michael C. Wendl, Yumi Kasai, Richard K. Wilson, and Elaine R. Mardis. PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data. Genome Research. 2007, 17: 659-666.
  28. AJ Aldave,VS Yellore, N Bourla, RS Momi, MA Khan, AK Salem, SA Rayner, BJ Glasgow, I Kurtz. Autosomal Recessive CHED Associated With Novel Compound Heterozygous Mutations in SLC4A11. Cornea. 2007, 26(7): 896-900.
  29. Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane Guernsey, and Mark Samuels. Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy. PLoS ONE. 2007; 2(8): e685.
  30. Suzanne E. Little, Dorine A. Bax, Maria Rodriguez-Pinilla, Rachael Natrajan, Boo Messahel, Kathy Pritchard-Jones, Gordan M. Vujanic, Jorge S. Reis-Filho and Chris Jones. Multifaceted Dysregulation of the Epidermal Growth Factor Receptor Pathway in Clear Cell Sarcoma of the Kidney. Clinical Cancer Research, 2007, 13: 4360-4364.
  31. April D. Harlin-Cognato, Tim Markowitz, Bernd Würsig, and Rodney L. Honeycutt. Multi-locus phylogeography of the dusky dolphin (Lagenorhynchus obscurus): passive dispersal via the westwind drift or response to prey species and climate change? BMC Evolutionary Biology, 2007, 7:131.
  32. A Bardelli, W Parsons, V Velculescu, K Kinzler, B. Vogelstein. Tyrosine kinome. United States Patent 20070037150.
  33. R. Singh, E. R. Pearson, P. M. Clark and A. T. Hattersley. The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia, 2007, 50(3): 620-624.
  34. GAN Hai-Yun, LI Jian-Bin, WANG Hong-Mei, GAO Yun-Dong, LIU Wen-Hao. Relationship between the melanocortin receptor 1 (MC1R) gene and the coat color phenotype in cattle. HEREDITAS (Beijing), 2007, 29(2): 195-200.
  35. Yuan Ji, Irene Moon, Jelena Zlatkovic, Oreste E. Salavaggione, Bianca A. Thomae, Bruce W. Eckloff, Eric D. Wieben, Daniel J. Schaid, and Richard M. Weinshilboum. Human Hydroxysteroid Sulfotransferase SULT2B1 Pharmacogenomics: Gene Sequence Variation and Functional Genomics. J. Pharmacol. Exp. Ther., 2007, 322: 529 - 540.
  36. Charles W. Ross, Peter D. Ouillette, Chris M. Saddler, Kerby A. Shedden, and Sami N. Malek. Comprehensive Analysis of Copy Number and Allele Status. Identifies Multiple Chromosome Defects Underlying Follicular Lymphoma Pathogenesis. Clin. Cancer Res., 2007, 13: 4777 - 4785.
  37. Vivianna M. Van Deerlin, Elisabeth McCarty Wood, Peachie Moore, Wuxing Yuan, Mark S. Forman, Christopher M. Clark, Manuela Neumann, Linda K. Kwong, John Q. Trojanowski, Virginia M.-Y. Lee, and Murray Grossman. Clinical, Genetic, and Pathologic Characteristics of Patients with Frontotemporal Dementia and Progranulin Mutations. Arch Neurol, 2007; 64: 1148 - 1153.
  38. E. Dicks, J. W. Teague, P. Stephens, K. Raine, A. Yates, C. Mattocks, P. Tarpey, A. Butler, A. Menzies, D. Richardson, A. Jenkinson, H. Davies, S. Edkins, S. Forbes, K. Gray, C. Greenman, R. Shepherd, M. R. Stratton, P. A. Futreal, and R. Wooster. AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. Bioinformatics, 2007, 23: 1689 - 1691.
  39. Ahmet Dursun, Hatice Gul Gurakbasi-Dursun, Ayse Gul Zamani, ZerrinGulin Gulbahar, Recep Dursun, and Cengiz Yakicer. Genetic Analysis of MEFV Gene Pyrin Domain in Patients with Behcet’s Disease. Mediators of Inflammation, 2006, Article ID 41783, Pages 1-4.
  40. Ann-Charlotte Ronn. Analysis of Nucleotide Variations in Non-human Primates, Doctoral thesis. Uppsala University. 2007.
  41. Sarah E. Flanagan, Ann-Marie Patch, Deborah J.G. Mackay, Emma L. Edghill, Anna L. Gloyn, David Robinson, Julian P.H. Shield, Karen Temple, Sian Ellard, and Andrew T. Hattersley. Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood. Diabetes, 2007; 56: 1930 - 1937.
  42. Robert L. Hanson, David W. Craig, Meredith P. Millis, Kimberly A. Yeatts, Sayuko Kobes, John V. Pearson, Anne M. Lee, William C. Knowler, Robert G. Nelson, and Johanna K. Wolford. Identification of PVT1 as a Candidate Gene for End-Stage Renal Disease in Type 2 Diabetes Using a Pooling-Based Genome-Wide Single Nucleotide Polymorphism Association Study. Diabetes, 2007; 56: 975 - 983.

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2006

  1. Tobias Sjöblom, Siân Jones, Laura D. Wood, D. Williams Parsons, Jimmy Lin, Thomas Barber, Diana Mandelker, Rebecca J. Leary, Janine Ptak, Natalie Silliman, Steve Szabo, Phillip Buckhaults, Christopher Farrell, Paul Meeh, Sanford D. Markowitz, Joseph Willis, Dawn Dawson, James K. V. Willson, Adi F. Gazdar, James Hartigan, Leo Wu, Changsheng Liu, Giovanni Parmigiani, Ben Ho Park, Kurtis E. Bachman, Nickolas Papadopoulos, Bert Vogelstein, Kenneth W. Kinzler, Victor E. Velculescu. The Consensus coding sequences of human breast and colorectal cancers. Science, 2006, 314: 268-274.
  2. Jocelyn Kaiser, CANCER: First pass at cancer genome reveals complex landscape. Science, 2006, 313: 1370
  3. Nelly Pitteloud, James S. Acierno, Jr., Astrid Meysing, Anna V. Eliseenkova, Jinghong Ma, Omar A. Ibrahimi, Daniel L. Metzger, Frances J. Hayes, Andrew A. Dwyer, Virginia A. Hughes, Maria Yialamas, Janet E. Hall, Ellen Grant, Moosa Mohammadi, and William F. Crowley, Jr.. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proceedings of the National Academy of Sciences. 2006, 103(16): 6281-6286.
  4. Jeffrey C.Lee, Igor Vivanco, Rameen Beroukhim, Julie H. Y. Huang, Whei L. Feng, Ralph M. DeBiasi, Koji Yoshimoto, Jennifer C. King, Phioanh Nghiemphu, Yuki Yuza, Qing Xu, Heidi Greulich, Roman K. Thomas, J. Guillermo Paez, Timothy C. Peck, David J. Linhart, Karen A. Glatt, Gad Getz, Robert Onofrio, Liuda Ziaugra, Ross L. Levine, Stacey Gabriel, Tomohiro Kawaguchi, Keith O'Neill, Haumith Khan, Linda M. Liau, Stanley F. Nelson, P. Nagesh Rao, Paul Mischel, Russell O. Pieper, Tim Cloughesy, Daniel J. Leahy, William R. Sellers, Charles L. Sawyers, Matthew Meyerson, Ingo K. Mellinghoff. Epidermal growth factor receptor activation in glioblastoma through novel Missense Mutations in the extracellular domain, PLoS Med .2006,3(12): e485 doi:10.1371/journal.pmed.0030485
  5. Matthew Stephens, James S Sloan, P D Robertson, Paul Scheet , Deborah A Nickerson, Automating sequence-based detection and genotyping of SNPs from diploid samples. Nature Genetics ,2006,38, 375 – 381,
  6. Tushar R Bhangale Matthew Stephens & Deborah A Nickerson, Automating resequencing-based detection of insertion-deletion polymorphisms, Nature Genetics,2006, 38: 1457 - 1462
  7. Sellick GS, Catovsky D, Houlston RS. Relationship between ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia. Leukemia Research, 2006, 30(12):1573-1576.
  8. Yana Pikman, Benjamin H. Lee, Thomas Mercher, Elizabeth McDowell, Benjamin L. Ebert , Maricel Gozo, Adam Cuker, Gerlinde Wernig, Sandra Moore, Ilene Galinsky, Daniel J. DeAngelo, Jennifer J. Clark, Stephanie J. Lee, Todd R. Golub , Martha Wadleigh, D. Gary Gilliland , Ross L. Levine. MPLW515L Is a novel somatic activating mutation in Myelofibrosis with Myeloid Metaplasia. PLoS Med, 2006,3(7): e270
  9. Heather A. Bradeen, Christopher A. Eide, Thomas O'Hare, Kara J. Johnson, Stephanie G. Willis, Francis Y. Lee, Brian J. Druker, and Michael W. Deininger. Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitrosourea (ENU)–based mutagenesis screen: high efficacy of drug combinations. Blood, 2006, Vol. 108(7):2332-2338
  10. Brian I. Rini, Erich Jaeger, Vivian Weinberg, Nancy Sein, Karen Chew, Kristen Fong, Jeffery Simko, Eric J. Small, Frederic M. Waldman. Clinical response to therapy targeted at vascular endothelial growth factor in metastatic renal cell carcinoma: impact of patient characteristics and Von Hippel-Lindau gene status. BJU International, 2006, 98(4): 756-762,
  11. Stefan Heinen , Pilar Sanchez-Corral , Michael S Jackson , Lisa Strain , Judith A. Goodship , Elizabeth J. Kemp , Christine Skerka , T. Sakari Jokiranta , Kevin Meyers , Eric Wagner , Pierre Robitaille , Jorge Esparza-Gordillo , Santiago Rodriguez de Cordoba , Peter F. Zipfel , Timothy H.J. Goodship. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. s, 2006, 27(3): 292 – 293.
  12. Robert E. Pyatt, Robert Pilarski and Thomas W. Prior . Mutation screening in juvenile polyposis syndrome. The Journal of Molecular Diagnostics,2006, 8(1) :84
  13. Anca Sterian, Takatsugu Kan, Agnes T. Berki, Yuriko Mori, Andreea Olaru, Karsten Schulmann, Fumiaki Sato, Suna Wang, Bogdan Paun, Kun Cai, James P. Hamilton, John M. Abraham, Stephen J. Meltzer. Mutational and LOH analyses of the chromosome 4q region in esophageal adenocarcinoma. Oncology, 2006, 70(3): 168-172.
  14. Benjamin Liou, Andrzej Kazimierczuk, Min Zhang, C. Ronald Scott, Rashmi S. Hegde, and Gregory A. Grabowski. Analyses of Variant Acid -Glucosidases EFFECTS OF GAUCHER DISEASE MUTATIONS. J. Biol. Chem., 2006, 281(7): 4242-4253.
  15. Anthony J. Aldave, Sylvia A. Rayner, Andrew K. Salem, Gina L. Yoo, Brian T. Kim, Monika Saeedian, Baris Sonmez, and Vivek S. Yellore. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial fuchs corneal dystrophy. Investigative Ophthalmology and Visual Science. 2006,47:3787-3790
  16. Joyce Y Tung, Mitchell P Rosen, Lawrence M Nelson, Paul J Turek, John S Witte, Daniel W Cramer,Marcelle I Cedars, and Renee A Reijo-Pera. Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men. Reprod Biol Endocrinol. 2006, 4: 40.
  17. J R Jass, K Baker, I Zlobec, T Higuchi, M Barker, D Buchanan, J Young. Advanced colorectal polyps with the molecular and morphological features of serrated polyps and adenomas: concept of a 'fusion' pathway to colorectal cancer. Histopathology, 2006, 49( 2) :121-131.
  18. Fiamma Buttitta , Lara Felicioni , Fabio Barassi , Carla Martella, Diego Paolizzi, Giuseppina Fresu, Simona Salvatore, Franco Cuccurullo, Andrea Mezzetti, Daniela Campani, Antonio Marchetti. PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. The Journal of Pathology, 2006, 208(3): 350 – 355.
  19. Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Molecular and Cellular Endocrinology, 2006, 254-255: 60-9.
  20. D. Walters, V. Goss, E. Stoffregen, T. Gu, K. Lee, J. Nardone, L. McGreevey, M. Heinrich, M. Deininger, R. Polakiewicz. Phosphoproteomic analysis of AML cell lines identifies leukemic oncogenes. Leukemia Research, 2006, 30 (9): 1097-1104.
  21. T. Tengs, J. Lee, J. Guillermo Paez, X. Zhao, T. LaFramboise, G. Giannoukos, R. Thomas. A transforming MET mutation discovered in non-small cell lung cancer using microarray-based resequencing. Cancer Letters, 2006, 239(2): 227-233.
  22. Douglas R Fullen, Jenny N Poynter, Lori Lowe, Lyndon D Su, James T Elder, Rajan P Nai, Timothy M Johnson and Stephen B Gruber. BRAF and NRAS mutations in spitzoid melanocytic lesions. Modern Pathology, 2006, 19: 1324–1332.
  23. Lecia V. Sequist, Victoria A. Joshi, Pasi A. Jänne, Daphne W. Bell, Panos Fidias, Neal I. Lindeman, David N. Louis, Jeffrey C. Lee, Eugene J. Mark, Janina Longtine, Peter Verlander, Raju Kucherlapati, Matthew Meyerson, Daniel A. Haber, Bruce E. Johnsonand Thomas J. Lynch. Epidermal Growth Factor Receptor Mutation Testing in the Care of Lung Cancer Patients. Clinical Cancer Research, 2006, 12:4403-4408.
  24. TuDung T. Nguyen, Lisa N. Ma, Marilyn L. Slovak, Charles D. Bangs, Athena M. Cherry, Daniel A. Arber. Identification of novel Runx1 (AML1) translocation partner genes SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemia. Genes, Chromosomes and Cancer, 2006, 45(10): 918-32
  25. Joyce Y. Tung, Mitchell P. Rosen, Lawrence M. Nelson, Paul J. Turek, John S. Witte, Daniel W. Cramer, Marcelle I. Cedars and Renee A. Reijo Pera. Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women. Human Genetics, 2006, 118( 6 ).
  26. Alfirevic, Ana; Mills, Tracy; Harrington, Pauline; Pinel, Tracy; Sherwood, James; Jawaid, Ansar; Smith, John C; March, Ruth E.; Barratt, Bryan J; Chadwick, David W.; Kevin Park,Pirmohamed, Munir. Serious carbamazepine-induced hypersensitivity reactions associated with the HSP70 gene cluster. Pharmacogenetics & Genomics, 2006, 16(4): 287-296.
  27. K A White, E M Lange, A M Ray, K J Wojno, K A Cooney. Prohibitin mutations are uncommon in prostate cancer families linked to chromosome 17q. Prostate Cancer and Prostatic Diseases, 2006, 9: 298–302.
  28. Gary L. Gallia, Vikki Rand, I-Mei Siu, Charles G. Eberhart, C. David James, Suely K.N. Marie, Sueli M. Oba-Shinjo, Carlos G. Carlotti, Otavia L. Caballero, Andrew J.G. Simpson, Malcolm V. Brock, Pierre P. Massion, Benjamin S. Carson, Sr. ,Gregory J. Riggins. PIK3CA Gene Mutations in pediatric and adult glioblastoma multiforme. Molecular Cancer Research, 2006, 4:709-714.
  29. Hania Wehbe, Roger Henson, Molly Lang, Fanyin Meng, and Tushar Patel. Pifithrin-a enhances chemosensitivity by a p38 Mitogen-Activated protein kinase-dependent modulation of the eukaryotic Initiation factor 4E in malignant cholangiocytes. Journal of Pharmacology And Experimental Therapeutics, 2006, 319:1153-1161.
  30. Amy E Roberts, Toshiyuki Araki, Kenneth D Swanson, Kate T Montgomery, Taryn A Schiripo, Victoria A Joshi, Li Li, Yosuf Yassin, Alex M Tamburino, Benjamin G Neel & Raju S Kucherlapati. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nature Genetics. 2006, 39:70 – 74.
  31. Yanick J Crow, Andrea Leitch, Bruce E Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin Semple, Jean Aicardi, Riyana Babul-Hirji, Clarisse Baumann, Peter Baxter, Enrico Bertini, Kate E Chandler, David Chitayat, Daniel Cau, Catherine Déry, Elisa Fazzi, Cyril Goizet, Mary D King, Joerg Klepper, Didier Lacombe, Giovanni Lanzi, Hermione Lyall, María Luisa Martínez-Frías, Michèle Mathieu, Carole McKeown, Anne Monier, Yvette Oade, Oliver W Quarrell, Christopher D Rittey, R Curtis Rogers, Amparo Sanchis, John B P Stephenson, Uta Tacke, Marianne Till, John L Tolmie, Pam Tomlin, Thomas Voit, Bernhard Weschke, C Geoffrey Woods, Pierre Lebon, David T Bonthron, Chris P Ponting & Andrew P Jackson. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nature Genetics. 2006, 38:910 – 916.
  32. Simon J. Patton, Andrew J. Wallace,Rob Elles. Benchmark for evaluating the quality of DNA sequencing: proposal from an International external quality assessment scheme. Clinical Chemistry. 2006, 52:728-736.
  33. Qing Song, John W. Cole, Jeffrey R. O'Connell, Oscar C. Stine, Margaret Gallagher, Wayne H. Giles, Braxton D. Mitchell, Marcella A. Wozniak, Barney J. Stern, John D. Sorkin, Patrick F. McArdle, Adam C. Naj, Qin Xu, Gary H. Gibbons and Steven J. Kittner. Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study. Human Molecular Genetics. 2006, 15(16):2468-2478.
  34. D. Walters, T. Mercher, T. Gu, T. O'Hare, J. Tyner, M. Loriaux, V. Goss, K. Lee, C. Eide, M. Wong. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell. 2006, 10(1): 65-75.
  35. Fakhrai-Rad Hossein, Eberle James,Zheng Jianbiao,Willis Thomas,Wong Kee,Suyenaga Kent,Moorehead Martin. Identification of rare alleles by enzymatic enrichment of mismatched heteroduplexes. United States Patent. 2006 01:60-102.
  36. Bell Daphne Winifred, Haber Daniel A.,Janne Pasi Antero,Johnson Bruce E.,Lynch Thomas J.,Meyerson Matthew,Paez Juan Guillermo,Sellers William R.,Settleman Jeffrey E.,Sordella Raffaella. Method to determine responsiveness of cancer to epidermal growth factor receptor targeting treatments. United States Patent. 2006 June 7.
  37. Qingwei Wang, Steven C. Hunt, Qin Xu, Yuqing E. Chen, Michael A. Province, John H. Eckfeldt, James S. Pankow, Qing Song. Association study of CRP gene polymorphisms with serum CRP level and cardiovascular risk in the NHLBI family heart study. Am J Physiol Heart Circ Physiol. 2006, 291: H2752-H2757.
  38. Patrick C Ma, X Zhang,Z J Wang. High-throughput mutational analysis of the human cancer genome. Pharmacogenomics. 2006; 7(4): 597-612.
  39. Hall, Marla Dale. Genetic characterization and utilization of multiple Aegilops tauschii derived pest resistance genes in wheat. Kansas State University Doctoral dissertation, 2006 Aug.
  40. Charles A. Kroll, Matt J. Ferber, Brian D. Dawson, Robert M. Jacobson, Kara A. Mensink, Fred Lorey, John Sherwin, George Cunningham, Piero Rinaldo, Dietrich Matern, and Si Houn Hahn. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Molecular Genetics and Metabolism. 2006, 89( 1-2):134-138,
  41. Jennifer O'Neil, Jennifer Calvo, Keith McKenna, Veena Krishnamoorthy, Jon C. Aster, Craig H. Bassing, Frederick W. Alt, Michelle,Kelliher, and A. Thomas Look. Activating Notch1 mutations in mouse models of T-ALL. Blood, 2006; 107(2):781-785.
  42. Y. Terai, M. Sugita, M. Ueda, M. Ueki, L. Bemis, J. Haney and W. A. Franklin. Somatic mutation in the EGFR gene in ovarian carcinoma detected by SSCP and direct sequencing. Journal of Clinical Oncology, 2006 ASCO Annual Meeting Proceedings. 2006, 24(18S): 5063.
  43. Ogechi N. Ikediobi, Helen Davies, Graham Bignell, Sarah Edkins, Claire Stevens, Sarah O'Meara, Thomas Santarius, Tim Avis, Syd Barthorpe, Lisa Brackenbury, Gemma Buck, Adam Butler, Jody Clements, Jennifer Cole, Ed Dicks, Simon Forbes, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jonathan Hinton, Chris Hunter, Andy Jenkinson, David Jones, Vivienne Kosmidou, Richard Lugg, Andrew Menzies, Tatiana Mironenko, Adrian Parker, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alex Small, Raffaella Smith, Helen Solomon, Philip Stephens, Jon Teague, Calli Tofts, Jennifer Varian, Tony Webb, Sofie West, Sara Widaa, Andy Yates, William Reinhold, John N. Weinstein, Michael R. Stratton, P. Andrew Futreal and Richard Wooster. Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. Mol Cancer Ther. 2006, 5:2606-2612.
  44. Carmel McConville, Sarah Reid, Linda Baskcomb, Jenny Douglas , Nazneen Rahman. PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. American Journal of Medical Genetics Part A,2006; 140A(12) : 1297 - 1301.
  45. Amy J. Clark, Efraim H. Rosenberg, Ligia S. Almeida, Tim C. Wood, Cornelis Jakobs, Roger E. Stevenson, Charles E. Schwartz and Gajja S. Salomons. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology . Human Genetics, 2006, 119( 6): 604-610.
  46. Patrick Y. Wen, W.K. Alfred Yung, Kathleen R. Lamborn, Patricia L. Dahia, Yanfeng Wang, Bin Peng, Lauren E. Abrey, Jeffrey Raizer, Timothy F. Cloughesy, Karen Fink, Mark Gilbert, Susan Chang, Larry Junck, David Schiff, Frank Lieberman, Howard A. Fine, Minesh Mehta, H. Ian Robins, Lisa M. DeAngelis, Morris D. Groves, Vinay K. Puduvalli, Victor Levin, Charles Conrad, Elizabeth A. Maher, Kenneth Aldape, Michael Hayes, Laurie Letvak, Merrill J. Egorin, Renaud Capdeville, Richard Kaplan, Anthony J. Murgo, Charles Stiles and Michael D. Prados. Phase I/II study of imatinib mesylate for recurrent malignant gliomas: North American brain tumor consortium study 99-08. Clinical Cancer Research. 2006, 12: 4899-4907
  47. Poynter, J. N. Elder, J. T. Fullen, D. R. Nair, R. P. Soengas, M. S. Johnson, T. M. Redman, B. Thomas, N. E. Gruber, S. B., BRAF and NRAS mutations in melanoma and melanocytic nevi, Melanoma Research. 2006, 16(4): 267-273.
  48. LESCHZINER Guy, ZABANEH Delilah, PIRMOHAMED M., OWEN Andrew, ROGERS Jane, COFFEY Alison J., BALDING David J, BENTLEY David B, JOHNSON Michael R.. Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance, Pharmacogenetics and genomics, 2006, 16(6): 439-450.
  49. Kentaro Nakayama, Naomi Nakayama, Ben Davidson, Hidetake Katabuchi, Robert J. Kurman, Victor E. Velculescu, Ie-Ming Shih, Tian-Li Wang. Homozygous deletion of MKK4 in ovarian serous carcinoma. Cancer Biology & Therapy, 2006, 5(6): 630-4.
  50. Jenny N. Poynter, Kathleen A. Cooney, Joseph D. Bonner, Kirsten A. White, Lynn P. Tomsho, Gad Rennert, and Stephen B. Bruber. APC I1307K and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 2006, 15(3): 468-473.
  51. Pasi A. Jänne, Ana M. Borras, Yanan Kuang, Andrew M. Rogers, Victoria A. Joshi, Hema Liyanage, Neal Lindeman, Jeffrey C. Lee, Balazs Halmos, Elizabeth A. Maher, Robert J. Distel, Matthew Meyerson and Bruce E. Johnson, A Rapid and Sensitive Enzymatic Method for Epidermal Growth Factor Receptor Mutation Screening. Clinical Cancer Research, 2006, 12, 751-758.
  52. Laura D. Wood, Eric S. Calhoun, Natalie Silliman, Janine Ptak, Steve Szabo, Steve M. Powell, Gregory J. Riggins, Tian-Li Wang, Hai Yan, Adi Gazdar, Scott E. Kern, Len Pennacchio, Kenneth W. Kinzler, Bert Vogelstein, Victor E. Velculescu. Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers. Human Mutation, 2006, 27(10), 1060 – 1061.
  53. Judith A. Gilbert, Oreste E. Salavaggione, Yuan Ji, Linda L. Pelleymounter, Bruce W. Eckloff, Eric D. Wieben, Matthew M. Ames and Richard M. Weinshilboum. Gemcitabine Pharmacogenomics: Cytidine Deaminase and Deoxycytidylate Deaminase Gene Resequencing and Functional Genomics. Clinical Cancer Research, 2006, 12, 1794-1803.
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  55. K Code, SJ Kittner, Q Song, BD Mitchell, etc. Single nucleotide polymorphism associated with stroke susceptibility. United States Patent 20070099223.
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  58. Ian J. Griswold, Mary MacPartlin, Thomas Bumm, Valerie L. Goss, Thomas O'Hare, Kimberly A. Lee, Amie S. Corbin, Eric P. Stoffregen, Caitlyn Smith, Kara Johnson, Erika M. Moseson, Lisa J. Wood, Roberto D. Polakiewicz, Brian J. Druker, and Michael W. Deininger. Kinase Domain Mutants of Bcr-Abl Exhibit Altered Transformation Potency, Kinase Activity, and Substrate Utilization, Irrespective of Sensitivity to Imatinib. Mol. Cell. Biol. 2006, 26 (16), 6082.
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2005

  1. Jonathan L. Haines, Michael A. Hauser, Silke Schmidt, William K. Scott, Lana M. Olson, Paul Gallins, Kylee L. Spencer, Shu Ying Kwan, Maher Noureddine, John R. Gilbert, Nathalie Schnetz-Boutaud, Anita Agarwal, Eric A. Postel, Margaret A. Pericak-Vance. Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration. Science, 2005, 308(5720), 419 – 421.
  2. Haiying Meng, Shelley D. Smith, Karl Hager, Matthew Held, Jonathan Liu, Richard K. Olson, Bruce F. Pennington, John C. DeFries, Joel Gelernter, Thomas O'Reilly-Pol, Stefan Somlo, Pawel Skudlarski, Sally E. Shaywitz, Bennett A. Shaywitz, Karen Marchione, Yu Wang, Murugan Paramasivam, Joseph J. LoTurco, Grier P. Page and Jeffrey R. Gruen. DCDC2 is associated with reading disability and modulates neuronal development in the brain, Proceedings of National Academy of Sciences, 2005, 102(47): 17053-17058.
  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, 2005, 24(2): 151-155
  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. Antonio Marchetti, Carla Martella, Lara Felicioni, Fabio Barassi, Simona Salvatore, Antonio Chella,Pier P. Camplese, Teodorico Iarussi, Felice Mucilli, Andrea Mezzetti, Franco Cuccurullo,Rocco Sacco,and Fiamma Buttitta, EGFR mutations in non-small-cell lung cancer: analysis of a large series of cases and development of a rapid and sensitive method for diagnostic screening with potential implications on pharmacologic treatment. Journal of Clinical Oncology, 2005, 23(4), 857-865.
  6. Vivek S. Yellore, Sylvia A. Rayner, Leslie Emmert-Buck, Geoffrey C. Tabin, Irving Raber, Sadeer B. Hannush, R. Doyle Stulting, Kapil Sampat, Rominder Momi, Alexandre H. Principe, and Anthony J. Aldave, No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Investigative Ophthalmology and Visual Science. 2005, 46:1599-1603.
  7. Anthony J. Aldave, Sylvia A. Rayner, Alexandre H. Principe, John A. Affeldt,Douglas Katsev,Vivek S.Yellore, Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy, Molecular Vision, 2005; 11:713-6
  8. Sherif Z. Abdel-Rahman, Marinel M. Ammenheuser, Curtis J. Omiecinski, Jeffrey K. Wickliffe, Judah I. Rosenblatt,and Jonathan B. Ward, Jr., Variability in human sensitivity to 1,3-butadiene: influence of polymorphisms in the 5#-flanking region of the microsomal epoxide hydrolase gene (EPHX1). Toxicological Sciences, 2005, 85: 624-631.
  9. Nicholas CM Hearle,Ian Tomlinson, Wendy Lim,Victoria Murday, Edwin Swarbrick, Guan Lim, Robin Phillips, Peter Lee, John O'Donohue, Richard C Trembath, Patrick J Morrison, Andrew Norman, Rohan Taylor, Shirley Hodgson, Anneke Lucassen and Richard S Houlston, Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome, BMC Genomics, 2005, 6: 38.
  10. Hsiao-Yuan Tang, Anping Xia, John S Oghalai, Fred A Pereira and Raye L Alford, High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss, BMC Medical Genetics, 2005, 6: 30.
  11. Maria Teresa Landi, Peter A. Kanetsky, Shirley Tsang, Bert Gold, David Munroe, Timothy Rebbeck, Jennifer Swoyer, Monica Ter-Minassian, Mohammad Hedayati, Lawrence Grossman, Alisa M. Goldstein, Donato Galista, Ruth M. Pfeiffer. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in Mediterranian population. Journal of the National Cancer Institute, 2005, 97(13): 998-1007.
  12. Edgar A. Otto, Bzart Loeys, Hemant Kanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O¡¯Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A Sayer, Concepcion Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Beinhardt, Sven Klages, Motoyuki Tsuda, Isao Kawakami, Takehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A Raymond, Jo Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S Williams, Anand Swaroop and Friedhelm Hildebrandt. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Lorken syndrome and intereacts with RPGR and calmodulin. Nature Genetics, 2005, 37(3):
  13. Byeongwoon Song, Bert Gold, Colm O'hUigin, Hassan Javanbakht, Xing Li, Matthew Stremlau, Cheryl Winkler, Michael Dean, and Joseph Sodroski1. The B30.2(SPRY) domain of the retroviral restriction factor TRIM5 exhibits lineage-specific length and sequence variation in primates. Journal of Virology, 2005, 79(10), 6111-6121.
  14. Alisa M. Goldstein, Maria Teresa Landi, Shirley Tsang, Mary C. Fraser, David J. Munroe, and Margaret A. Tucker. Association of MC1R Variants and Risk of Melonoma in Melonoma-Prone Families with CDKN2A Mutations. Cancer Epidemiol Biomarkers Prev 2005; 14(9): 2208-2212.
  15. P. Rump, H.H. Lemmink, C.C. Verschuuren-Bemelmans, P.M. Grootscholten, J.M. Fock, S.J. Hayflick, S.K. Westaway, Y.J. Vos and A.J. Van Essen. A novel 3-bp deletion in the PANK2 gene of dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. Neurogenetics, 2005, 6(4): 201-207.
  16. Teh-Ying Chou,Chao-Hua Chiu,Ling-Hui Li,Chun-Yen Hsiao,Chin-Yuan Tzen,Kuo-Ting Chang, Yuh-Min Chen,Reury-Perng Perng,Shih-Feng Tsai, and Chun-Ming Tsai, Mutation in the tyrosine kinase domain of epidermal growth factor receptor is a predictive and prognostic factor for Gefitinib treatment in patients with Non-Small-Cell lung cancer. Clinical Cancer Research, 2005, 11(10): 3750-3757.
  17. Weizhu Zhu, Wenyi Qin, Paul Bradley, Amy Wessel, Charles L.Puckett and Edward R.Sauter, Mitochondrial DNA mutations in breast cancer tissue and in matched nipple aspirate fluid. Carcinogenesis, 2005, 26(1): 145-152.
  18. Lori J. Wirth, Robert I. Haddad, Neal I. Lindeman, Xiaojun Zhao, Jeffrey C. Lee, Victoria A. Joshi, Charles M. Norris Jr, and Marshall R. Posner. Phase I study of Gefitinib plus Celecoxib in recurrent or metastatic squamous cell carcinoma of the head and neck. Journal of Clinical Oncology Original Report, 2005, 23(28): 6976-6981.
  19. Ross L. Levine, Marc Loriaux, Brian J.P. Huntly, Mignon L. Loh, Miroslav Beran, Eric Stoffregen, Roland Berger, Jennifer J. Clark, Stephanie G. Willis, Kim T. Nguyen, Nikki J. Flores, Elihu Estey, Norbert Gattermann, Scott Armstrong, A. Thomas Look, James D. Griffin, Oliver A. Bernard, Michael C. Heinrich, D. Gary Gilliland, Brian Druker, and Michael W.N. Deininger. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood, 2005, 106(10): 3377-3379.
  20. Esther H. Lips, Jan Wellem F. Dierssen, Ronald Van Eijk, Jan Oosting, Paul H.C. Eilers, Rob A.E.M. Tollenaar, Eelco j. De Graaf, Ruben Van¡¯t Slot, Cisca Wijmenga, Hans Morreau and Tom Van Wezel. Reliable high-throughput genotyping and loss-of heterozygosity detection in formalin-fixed, paraffin-embedded tumors using single nucleotide polymorphism arrays. Cancer Research, 2005, 65: 10188-10191.
  21. Robert R. Freimuth, Ming Xiao, Sharon Marsh, Matthew Milton, Nicholas Addleman, Derek J. Van Booven, Howard L. McLeod and Pui-Yan Kwok. Polymorphism discovery in 51 chemotherapy pathway genes. Human Molecular Genetics, 2005, 14(23): 3595-3603.
  22. E. Baxter, L. Scott, P. Campbell, C. East, N. Fourouclas, S. Swanton, G. Vassiliou, A. Bench, E. Boyd, N. Curtin. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. The Lancet, 2005, 365(9464): 1054-1061.
  23. Xiufeng Song, Jian-Hong Deng, Changsheng J. Liu and Yidong Bai. Specific point mutations may not accumulate with aging in the mouse mitochondrial DNA control region. Gene, 2005, 350(2): 193-199.
  24. Vivian Sze Wing Li, Chi Wai Wong, Tsun Leung Chan, Agnes Sze Wah Chan, Wei Zhao, Kent-Man Chu, Samuel So, Xin Chen, Siu Tsan Yuen and Suet Yi Leung. Mutations of PIK3CA in gastric adenocarcinoma. BMC Cancer 2005, 5:29.
  25. Shirley Tsang, Zhonghe Sun, Brian Luke, Claudia Stewart, Nicole Lum, Melissa Gregory, Xiaolin Wu, Marianne Subleski, Nancy A. Jenkins, Neal G. Copeland and David J. Munroe. A comprehensive SNP-based genetic analysis of inbred mouse strains. Mammalian Genome, 2005, 16(7): 476-480.
  26. Imtiaz Yakub, Kristy M. Lillibridge, Ana Moran, Omar Y. Gonzalez, John Belmont, Richard A. Gibbs, and David J. Tweardy. Single Nucleotide Polymorphisms in Genes for 2-5-Oligoadenylate Synthetase and RNase L in Patients Hospitalized with West Nile Virus Infection. The Journal of Infectious Diseases, 2005, 192: 1741–1748.
  27. Nicholas CM Hearle, Ian Tomlinson, Wendy Lim, Victoria Murday, Edwin Swarbrick, Guan Lim, Robin Phillips, Peter Lee, John O'Donohue, Richard C Trembath, Patrick J Morrison, Andrew Norman, Rohan Taylor, Shirley Hodgson, Anneke Lucassen and Richard S Houlston. Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics 2005, 6:38.
  28. Eleanor J. Davison, Patrick S. Tarpey, Heike Fiegler, Ian P. M. Tomlinson, Nigel P. Carter. Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization. Genes, Chromosomes and Cancer, 2005, 44(4): 384 – 391.
  29. Colin B. Begg, Irene Orlow, Amanda J. Hummer, Bruce K. Armstrong, Anne Kricker, Loraine D. Marrett, Robert C. Millikan, Stephen B. Gruber, Hoda Anton-Culver, Roberto Zanetti, Richard P. Gallagher, Terence Dwyer, Timothy R. Rebbeck, Nandita Mitra, Klaus Busam, Lynn From, Marianne Berwick. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst, 2005, 97(20): 1507-1515.
  30. J. Kraft, S. Slager, P. McGrath, S. Hamilton. Sequence Analysis of the Serotonin Transporter and Associations with Antidepressant Response. Biological Psychiatry, 2005, 58(5): 374-381.
  31. Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo D. Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, and Walter L. Miller. Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis. The American Journal of Human Genetics, 2005, 76: 729–749.
  32. Hamish S Scott. Technophiles seek genomic imperfections with the Greek gods at Atlantis. Nature Genetics, 2005, 37, 1019 – 1021.
  33. R. Levine, M. Wadleigh, J. Cools, B. Ebert, G. Wernig, B. Huntly, T. Boggon, I. Wlodarska, J. Clark, S. Moore. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell, 2005, 7(4): 387-397.
  34. Andrew Biggina, Robert Henkeb, Bruce Bennettsa, c, David R. Thorburnd, e and John Christodouloua. Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Molecular Genetics and Metabolism, 2005, 84(1): 61-74.
  35. Carl Manaster, Weiyue Zheng, Markus Teuber, Stefan Wächter, Frank Döring, Stefan Schreiber, Jochen Hampe. InSNP: A tool for automated detection and visualization of SNPs and InDels. Human Mutation, 2005, 26(1): 11 – 19.
  36. Neil Gibson, Ansar Jawaid, Ruth March. Novel technology and the development of pharmacogenetics within the pharmaceutical industry. Pharmacogenomics, 2005, 6(4): 339-356.
  37. X. Zhang, X. Miao, W. Tan, B. Ning, Z. Liu, Y. Hong, W. Song, Y. Guo, X. Zhang, Y. Shen. Identification of Functional Genetic Variants in and Their Association With Risk of Esophageal Cancer. Gastroenterology, 2005, 129(2): 565-576.
  38. Graham Bignell, Raffaella Smith, Chris Hunter, Philip Stephens, Helen Davies , Chris Greenman, Jon Teague, Adam Butler, Sarah Edkins, Claire Stevens, Sarah O'Meara, Adrian Parker, Tim Avis, Syd Barthorpe, Lisa Brackenbury, Gemma Buck, Jody Clements, Jennifer Cole, Ed Dicks, Ken Edwards, Simon Forbes , Matthew Gorton, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills , Jonathon Hinton, David Jones, Vivienne Kosmidou, Ross Laman, Richard Lugg , Andrew Menzies, Janet Perry, Robert Petty, Keiran Raine, Rebecca Shepherd, Alexandra Small, Helen Solomon, Yvonne Stephens, Calli Tofts, Jennifer Varian , Anthony Webb, Sofie West, Sara Widaa, Andy Yates, Ad J. M. Gillis, Hans J. Stoop, Ruud J. H. L. M. van Gurp , J. Wolter Oosterhuis, Leendert H. J. Looijenga, P. Andrew Futreal, Richard Wooster, Michael R. Stratton. Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. Genes, Chromosomes and Cancer. 2005,45(1): 42-46.
  39. 1. Nils Rostoks, Justin O Borevitz, Peter E Hedley, Joanne Russell, Sharon Mudie, Jenny Morris, Linda Cardle, David F Marshall and RobbieWaugh, Single-feature polymorphism discovery in the barley transcriptome, Genome Biology 2005, 6: R54.
  40. Graham Casey, Noralane M. Lindor, Nickolas Papadopoulos, Stephen N. Thibodeau, John Moskow, Scott Steelman, Carolyn H. Buzin, Steve S. Sommer, Christine E. Collins, Malinda Butz, Melyssa Aronson, Steven Gallinger, Melissa A. Barker, Joanne P. Young, Jeremy R. Jass, John L. Hopper, Anh Diep, Bharati Bapat, Michael Salem, Daniela Seminara, Robert Haile for the Colon Cancer Family Registry. Conversion Analysis for Mutation Detection in MLH1 and MSH2 in Patients With Colorectal Cancer. JAMA, 16, 2005; 293: 799 - 809.

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2004

  1. 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. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science. 2004, 304 (5676):1497-500.
  2. 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. Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science. 2004, 304 (5676): 1497-1500.
  3. Yardena Samuels, Zhenghe Wang, Alberto Bardelli, Natalie Silliman, Janine Ptak, Steve Szabo, Hai Yan, Adi Gazdar, Steven M. Powell, Gregory J. Riggins, James K. V. Willson, Sanford Markowitz, Kenneth W. Kinzler, Bert Vogelstein, and Victor E. Velculescu. High frequency of mutations of the PIK3CA gene in human cancers, SCIENCE, 2004, 304(5670): 554.
  4. Rajagopalan H, Jallepalli PV, Rago C, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C. 2004. Inactivation of hCDC4 can cause chromosomal instability. Nature 2004 428 (6978):77-81.
  5. Frank Diehl, Meng Li, Devin Dressman, Yiping He, Dong Shen, Steve Szabo, Luis A. Diaz, Jr, Steven N. Goodman, Kerstin A. David, Hartmut Juhl, Kenneth W. Kinzler, and Bert Vogelstein. Detection and quantification of mutations in the plasma of patients with colorectal tumors. PNAS, 2005; 102: 16368 - 16373.
  6. Sergey Shulenin, Lawrence M. Nogee, Tarmo Annilo, Susan E. Wert, Jeffrey A. Whitsett, and Michael Dean. ABCA3 gene mutations in newborns with fatal surfactant deficiency. The New England Journal of Medicine, 2004, 350 :1296-303.
  7. 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. Identification and Characterization of a Novel Activating Mutation of the FLT3 tyrosine kinase in AML. Blood, 2004, 104(6): 1855-1858.
  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, 2004, 64, 8816-8820.
  9. 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. Italy J Medical Genetics 2004: 41 557-566.
  10. 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. 2004, 75(1): 97-105.
  11. K.E. Roberts, J.J. McElroy, W.P.K. Wong, E. Yen, A. Widlitz, R.J. Knowles, J.H. Morse. BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. European Respiratory Journal, 2004; 24: 371-374.
  12. Fabio Marroni, Paolo Aretini, Emma D¡¯Andrea, Maria Adelaide Caligo, Laura Cortesi, Alessandra Viel, Enrico Ricevuto, Marco Montagna, Giovanna Cipollini, Massimo Federico, Manuela Santarosa, Paolo Marchetti, Joan E. Bailey-Wilson, Generoso Bevilacqua, Giovanni Parmigiani and Silvano Presciuttni. Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. European Journal of Human Genetics, 2004, 12(1): 899-906.
  13. Zhenghe Wang, Jordan M. Cummins, Dong Shen, Daniel P. Cahill, Prasad V. Jallepalli, Tian-Li Wang, D. Williams Parsons, Giovanni Traverso, Mark Awad, Natalie Silliman, Janine Ptak, Steve Szabo, James K. V. Willson, Sanford D. Markowitz, Michael L. Goldberg, Roger Karess, Kenneth W. Kinzler, Bert Vogelstein, Victor E. Velculescu and Christoph Lengauer. Three classes of genes mutated in colorectal cancers with chromosomal instability. Cancer Research 2004, 64: 2998-3001.
  14. S. H. Korman, G. S. Salomons, A. Gutman, R. Brooks, C. Jakobs. D-2-Hydroxyglutaric Aciduria and Glutaric Aciduria Type 1 in Siblings: Coincidence, or Linked Disorders? Neuropediatrics 2004; 35: 151-156.
  15. M T Landi, A M Goldstein, S Tsang, D Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats, R Agatep, D Hogg and D Calista. Genetic susceptibility in familial melanoma from northeastern Italy. Journal of Medical Genetics 2004;41:557-566.
  16. Kimberly A. Zuhlke, Jennifer J. Madeoy, Jennifer Beebe-Dimmer, Kirsten A. White, Angela Griffin, Ethan M. Lange, Stephen B. Gruber, Elaine A. Ostrander and Kathleen A. Cooney. Truncating BRCA1 Mutations Are Uncommon in a Cohort of Hereditary Prostate Cancer Families with Evidence of Linkage to 17q Markers. Clinical Cancer Research 2004, 10: 5975-5980.
  17. Sharon Marsha, Ming Xiao, Jinsheng Yu, Ranjeet Ahluwalia, Matthew Minton, Robert R. Freimuth Pui-Yan Kwok and Howard L. McLeod. Pharmacogenomic assessment of carboxylesterases 1 and 2. Genomics, 2004, 84(4): 661-668.
  18. H. Robert Bergen, III, Steven R. Zeldenrust, Malinda L. Butz, Denise S. Snow, Peter J. Dyck, P. James B. Dyck, Christopher J. Klein, John F. O’Brien, Stephen N. Thibodeau,a and David C. Muddiman. Identification of Transthyretin Variants by Sequential Proteomic and Genomic Analysis. Clinical Chemistry, 2004, 50: 1544-1552.
  19. Daniel K. Broderick, Chunhui Di, Timothy J. Parrett, Yardena R. Samuels, Jordan M. Cummins, Roger E. McLendon, Daniel W. Fults, Victor E. Velculescu, Darell D. Bigner and Hai Yan. Mutations of PIK3CA in Anaplastic Oligodendrogliomas, High-Grade Astrocytomas, and Medulloblastomas. Cancer Research 2004, 64: 5048-5050.
  20. F Hildebrandt, E Otto, H Khanna, A Swaroop. NPHP nucleic acids and proteins. United States Patent 20050214864.
  21. 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. Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Research, 2004, 32(9):e71.
  22. 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. SNP discovery in pooled samples with mismatch repair detection. Genome Research, 2004, 14: 1404-1412.
  23. Heidi L. Rehm, Molecular Diagnosis of Hearing Loss. Current Protocols in Human Genetics, 2004, Oct.
  24. ChangSheng Liu. Enhanced Accuracy, Sensitivity, and Speed of DNA Variant Detection of Sequence Traces for Discovery and Diagnostics Analysis. AMERICAN BIOTECHNOLOGY LABORATORY, 2004, 6: 30-32.
  25. Mohamed Bentires-Alj, 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, and Benjamin G. Neel. Activating Mutations of the Noonan Syndrome-Associated SHP2/PTPN11 Gene in Human Solid Tumors and Adult Acute Myelogenous Leukemia. Cancer Res., 2004; 64: 8816 - 8820.

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2003

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. Mutational analysis of the tyrosine kinome in colorectal cancers. SCIENCE, 2003, 300(5621): 949.

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2002

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

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Citations of SoftGenetics GeneMarker Software

Clinical Findings, Genetic Diseases and Oncology

  1. Maika G. Mitchell, Diane Tabarini and Melanie Ziman. Loss of heterozygosity analysis at selected single nucleotide polymorphism sites in the intronic regions of PAX7 via in silico biology and microsatelite analysis. Journal of American Sciences, 2006, 2: 4.
  2. Denise M. Kay, Dawn Moran, Lina Moses, Parvoneh Poorkaj, Cyrus P. Zabetian, John Nutt, Stewart A. Factor, Chang-En Yu, Jennifer S. Montimurro, Robert G. Keefe, Gerard D. Schellenberg, Haydeh Payami. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Annals of Neurology, 2006, 61(1): 47-54.
  3. D del Gaudio, P Fang, F Scaglia, P Ward, WJ Craigen, DG Glaze, JL Neul, A Patel, JA Lee, M Irons, SA Berry, AA Pursley, TA Grebe, D Freedenberg, RA Martin, GE Hsich, JR Khera, NR Friedman, HY Zoghbi, CM Eng, JR Lupski, AL Beaudet, SW Cheung, BB Roa. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in Medicine, 2006, 8(12): 789-792.
  4. Johan T. den Dunnen and Stefan J. White. MLPA and MAPH: Sensitive detection of deletions and duplications. Current Protocols in Human Genetics, 2006. MLPA, Univ of Leiden, Netherlands.
  5. J.M. Milunsky, T.A. Maher, M. Ito, A. Milunsky. The Value of MLPA in Waardenburg Syndrome. Genetic Testing. 2007, 11(2): 179-182.
  6. Melinda Procter, Lan-Szu Chou, Wei Tang, Mohamed Jama and Rong Mao. Molecular diagnosis of Prader–Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clinical Chemistry, 2006, 52: 1276-1283.
  7. Anthony L. Gotter, Manjunath A. Nimmakayalu, G. Reza Jalali, April M. Hacker, Jacob Vorstman, Danielle Conforto Duffy, Livija Medne, and Beverly S. Emanuel. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. Genome Res. 2007, 17: 470-481.
  8. Denise M. Kay, Dawn Moran, Lina Moses, Parvoneh Poorkaj, Cyrus P. Zabetian, John Nutt, Stewart A. Factor, Chang-En Yu, Jennifer S. Montimurro, Robert G. Keefe, Gerard D. Schellenberg and Haydeh Payami. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Annals of Neurology, 2006, 61(1): 47-54.
  9. Birgit H. Funke, Alison C. Brown, Marco F. Ramoni, Maura E. Regan, Chris Baglieri, Christine T. Finn, Melanie Babcock, Robert J. Shprintzen, Bernice E. Morrow, Raju Kucherlapati. A Novel, Single Nucleotide Polymorphism-Based Assay to Detect 22q11 Deletions. Genetic Testing. 2007, 11(1): 91-100.
  10. ALM Bothwell, JS Pober, JS Schechner, Vascularized human skin equivalent, EP Patent ,1,499,181, 2005.
  11. H Jin, L Ping, C. Yong-jian, Z Hong, Z Dan-xia, Z Xiao-wei, Q Jie, Genetic Diagnosis of Polycystic Kidney Disease Using Single Cell Fluorescent Polymerase Chain Reaction. Acta Academia Medicine Sinica, 2007, 29 (2) :283-286.
  12. Marika Paaver, Niklas Nordquist, Jüri Parik, Maarike Harro, Lars Oreland and Jaanus Harro. Platelet MAO activity and the 5-HTT gene promoter polymorphism are associated with impulsivity and cognitive style in visual information processing. Psychopharmacology. 2007, 10.1007/s00213-007-0867-z.
  13. MJ Villa, SA Henry. Cells engineered to contain genes of interest, US Patent 7,129,079, 2006.

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Plant Genome Discovery

  1. Johannes J. Le Roux1, Ania M. Wieczorek, Mark G. Wright, Carol T. Tran. Super-Genotype: Global monoclonality defies the odds of nature. PLoS ONE,2007,7:e590
  2. Isabelle M. Henry, Brian P. Dilkes and Luca Comai. Molecular karyotyping and aneuploidy detection in Arabidopsis thaliana using quantitative fluorescent polymerase chain reaction. The Plant Journal, 2006, 48(2): 307-319.
  3. D. M. Tucker, C. A. Griffey, S. Liu, G. Brown-Guedira, D. S. Marshall and M. A. Saghai Maroof. Confirmation of three quantitative trait loci conferring adult plant resistance to powdery mildew in two winter wheat populations. Euphytica, 2007, 155(1): 1-13.
  4. R LE, J Johannes and AM Wieczorek. Isolation and characterization of polymorphic microsatellite markers from fireweed, Senecio madagascariensis Poir. (Asteraceae). Molecular Ecology Notes, 2007, 7(2), 327-329.
  5. S Chao, J Anderson, K Glover and K. Smith. Use of high throughput marker technologies for marker-assisted breeding in wheat and barley. Plant and Animal Genome XIV Conference Abstracts, 2006, Jan..
  6. J. E. ZALAPA, J. BRUNET, R. P. GURIES. Isolation and characterization of microsatellite markers for red elm (Ulmus rubra Muhl.) and cross-species amplification with Siberian elm (Ulmus pumila L.). Molecular Ecology Notes. 2007.
  7. SHANNON D. FEHLBERG, KRISTEN A. FORD, MARK C. UNGERER, CAROLYN J. FERGUSON. Development, characterization and transferability of microsatellite markers for the plant genus Phlox (Polemoniaceae). Molecular Ecology Notes, 2007.
  8. David Wills and John Burke. QTL Analysis of the Early Domestication of Sunflower. Genetics, 2007; doi:10.1534/genetics.107.075333.
  9. Chunxian Chen, Kim D. Bowman, Young A Choi, Phat M. Dang, Madhugiri Nageswara Rao, Shu Huang, Jaya R. Soneji, T. Greg McCollum and Fred G. Gmitter Jr.. EST-SSR genetic maps for Citrus sinensis and Poncirus trifoliate. Tree Genetics & Genomes. 2007, DOI, 10.1007/s11295-007-0083-3.

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AFLP Analysis

  1. Heidi M. Meudt and Andrew C. Clarke, Almost Forgotten or Latest Practice AFLP applications, analyses and advances TRENDS in Plant Science, TRENDS in Plant Science, 2007,12(3 )106-117.
  2. Chris D. Curtin, Jennifer R. Bellon, Paul A. Henschke, Peter W. Godden, Miguel A. de Barros Lopes. Genetic diversity of Dekkera bruxellensis yeasts isolated from Australian wineries. FEMS Yeast Research, 2007, 7 (3): 471–481.
  3. N. J. Miller, M. Ciosi, T. W. Sappington, S. T. Ratcliffe, J. L. Spencer, T. Guillemaud. Genome scan of Diabrotica virgifera virgifera for genetic variation associated with crop rotation tolerance. Journal of Applied Entomology, 2007, 131 (6): 378–385.

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Genotyping, Genetic Diversity, Population Genetics, Ecology, Evolution

  1. Jens Carlsson, Cheryl L. Morrison, and Kimberly S. Reece. Wild and aquaculture populations of the eastern oyster compared using microsatellites. Journal of Heredity, 2006, 97(6): 595-598.
  2. Emmanuel Milot, Henri Weimerskirch, Pierre Duchesne, Louis Bernatchez. Surviving with low genetic diversity: the case of albatrosses. Proceeding of Royal Society, B, Biology Sciences, 2007, 274(1611): 779-787.
  3. S. Leuko, F. Goh, M. A. Allen, B. P. Burns, M. R. Walter and B. A. Neilan. Analysis of intergenic spacer region length polymorphisms to investigate the halophilic archaeal diversity of stromatolites and microbial mats. Extremophiles, 2007, 11(1): 203-210.
  4. J. Carlsson and KS Reece. Eight PCR primers to amplify EST-linked microsatellites in the Eastern oyster, Crassostrea virginica genome. Molecular Ecology Notes, 2007, 7(2): 257-259.
  5. M. G. Gonda, B. W. Kirkpatrick, G. E. Shook, M. T. Collins. Identification of a QTL on BTA20 affecting susceptibility to Mycobacterium avium ssp. paratuberculosis infection in US Holsteins. Animal Genetics, 2007, 38(4), 389–396.
  6. K. C. Pause, C. Nourisson, A. Clark, M. E. Kellogg, R. K. Bonde, P. M. McGuire. Polymorphic microsatellite DNA markers for the Florida manatee (Trichechus manatus latirostris), Molecular Ecology Notes. 2007.
  7. Peter B. S. Spencer, Maria Cardoso, R. A. How, J. Williams, M. Bunce, L. H. Schmitt. Cross-species amplification at microsatellite loci in Australian quolls including the description of five new markers from the Chuditch (Dasyurus geoffroii). Molecular Ecology Notes. 2007.
  8. L. M. Winton, A. L. Krohn, R. H. Leiner. Microsatellite markers for Sclerotinia subarctica nom. prov., a new vegetable pathogen of the High North. Molecular Ecology Notes, 2007.
  9. Jonathan Willett, James L. Smart, and Carl E. Bauer. RegA Control of Bacteriochlorophyll and Carotenoid Synthesis in Rhodobacter capsulatus. J. Bacteriol., 2007; doi:10.1128/JB.00853-07.
  10. Samantha M. Wisely, Rachel M. Santymire, Travis M. Livieri, Sara A. Mueting and JoGayle Howard. Genotypic and phenotypic consequences of reintroduction history in the black-footed ferret (Mustela nigripes). Conservation Genetics, 2007, June 13.

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Human Identification and Forensic Analysis

  1. Rebecca Laird, Silvana Gaudieri, Jemma Berry, Joseph Williamson, Jui-Sen Yang and Roger Dawkins. Vertebrate species profiling in one step using a single primer. Forensic Science, Medicine, and Pathology, 2006, 2: 165-172.

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Citations of SoftGenetics NextGENe Software

  1. Meredith Yeager, Zuoming Deng , Joseph Boland, Casey Matthews, Jennifer Bacior, Victor Lonsberry, Amy Hutchinson, Laura A. Burdett, Liqun Qi, Kevin B. Jacobs, Jesus Gonzalez-Bosquet, Sonja I. Berndt, Richard B. Hayes, Robert N. Hoover, Gilles Thomas, David J. Hunter, Michael Dean and Stephen J. Chanock. *Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.  *Human Genetics: 2009, December, v.126: 743-750. Read the entire paper...click here.
    (link: http://www.springerlink.com/content/pv372ru817082661/ )
  2. Hemang Parikh, Zuoming Deng, Meredith Yeager, Joseph Boland, Casey Matthews, Jinping Jia, Irene Collins, Ariel White, Laura Burdett, Amy Hutchinson, Liqun Qi, Jennifer A. Bacior, Victor Lonsberry, Matthew J. Rodesch, Jeffrey A. Jeddeloh, Thomas J. Albert, Heather A. Halvensleben, Timothy T. Harkins, Jiyoung Ahn, Sonja I. Berndt, Nilanjan Chatterjee, Robert Hoover, Gilles Thomas, David J. Hunter, Richard B. Hayes, Stephen J. Chanock and Laufey Amundadottir. *A comprehensive resequence analysis of the KLK15–KLK3–KLK2 locus on chromosome 19q13.33*. Human Genetics, 2010, January. 127:1. 91-99. Read the entire paper...click here.
    (link: http://www.springerlink.com/content/a7j684055m17g041/ )
  3. Lan-Szu Chou,C.-S. Jonathan Liu, Benjamin Boese, Xinmin Zhang, Rong Mao. DNA Sequence Capture and Enrichment by Microarray Followed by Next-Generation Sequencing for Targeted Resequencing: Neurofibromatosis Type 1 Gene as a Model. Clinical Chemistry, 2010, January, 56:1, 62-72. Read the entire paper...click here.

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