top
Citations of SoftGenetics Mutation
Surveyor and Mutation Explorer.
2009
- 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
- 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.
- 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.
- 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.
- 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.
- WS Oetting. The 2006 Human Genome Variation Society scientific
meeting. Human Mutation 2007; 28(5), 517-521.
- 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.
- E John. Major, Genomic Mutation Consequence Calculator. Bioinformatics, 2007; June 28.
- 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
- 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,.
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- A Bardelli, W Parsons, V Velculescu, K Kinzler, B. Vogelstein. Tyrosine
kinome. United States Patent 20070037150.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Ann-Charlotte Ronn. Analysis of Nucleotide Variations in
Non-human Primates, Doctoral thesis. Uppsala University.
2007.
- 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.
- 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
- 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.
- Jocelyn Kaiser, CANCER: First pass at cancer genome reveals
complex landscape. Science, 2006, 313: 1370
- 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.
- 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
- 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,
- Tushar R Bhangale Matthew Stephens & Deborah A Nickerson, Automating
resequencing-based detection of insertion-deletion polymorphisms, Nature Genetics,2006, 38: 1457 - 1462
- Sellick GS, Catovsky D, Houlston RS. Relationship between
ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia. Leukemia Research, 2006, 30(12):1573-1576.
- 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
- 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
- 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,
- 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.
- Robert E. Pyatt, Robert Pilarski and Thomas W. Prior . Mutation
screening in juvenile polyposis syndrome. The Journal of
Molecular Diagnostics,2006, 8(1) :84
- 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.
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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
- 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 ).
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Patrick C Ma, X Zhang,Z J Wang. High-throughput mutational
analysis of the human cancer genome. Pharmacogenomics.
2006; 7(4): 597-612.
- Hall, Marla Dale. Genetic characterization and utilization
of multiple Aegilops tauschii derived pest resistance genes in wheat. Kansas State University Doctoral dissertation, 2006 Aug.
- 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,
- 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.
- 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.
- 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.
- 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.
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- H Fakhrai-Rad, J Eberle, J Zheng, T Willis, K Wong, etc. Identification
of rare alleles by enzymatic enrichment of mismatched heteroduplexes. United States Patent 20060160102.
- K Code, SJ Kittner, Q Song, BD Mitchell, etc. Single nucleotide
polymorphism associated with stroke susceptibility. United
States Patent 20070099223.
- DW Bell, DA Haber, PA Janne, BE Johnson, TJ Lynch, etc.. Method
to determine responsiveness of cancer to epidermal growth factor receptor
targeting treatments. United States Patent 20060147959.
- Timothy H.J. Goodship, Véronique Frémeaux-Bacchi and
John P. Atkinson. Genetic testing in atypical HUS and the role
of membrane cofactor protein (MCP; CD46) and Factor I. Complement
and Kidney Disease. Birkhäuser Basel. 2006. ISBN 978-3-7643-7166-1.
Page 111-127.
- 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.
- Laura Pasqualucci, Mara Compagno, Jane Houldsworth, Stefano Monti,
Adina Grunn, Subhadra V. Nandula, Jon C. Aster, Vundavally V. Murty,
Margaret A. Shipp, and Riccardo Dalla-Favera. Inactivation of
the PRDM1/BLIMP1 gene in diffuse large B cell lymphoma. J.
Exp. Med. 2006, 203 (2), 311.
top
2005
- 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.
- 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.
- 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
- 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.
- 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.
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- 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):
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Hamish S Scott. Technophiles seek genomic imperfections with
the Greek gods at Atlantis. Nature Genetics, 2005,
37, 1019 – 1021.
- 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.
- 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.
- 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.
- Neil Gibson, Ansar Jawaid, Ruth March. Novel technology and
the development of pharmacogenetics within the pharmaceutical industry. Pharmacogenomics, 2005, 6(4): 339-356.
- 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.
- 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.
- 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.
- 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.
top
2004
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- F Hildebrandt, E Otto, H Khanna, A Swaroop. NPHP nucleic acids
and proteins. United States Patent 20050214864.
- 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.
- 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.
- Heidi L. Rehm, Molecular Diagnosis of Hearing Loss. Current Protocols in Human Genetics, 2004, Oct.
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- J.M. Milunsky, T.A. Maher, M. Ito, A. Milunsky. The Value
of MLPA in Waardenburg Syndrome. Genetic Testing.
2007, 11(2): 179-182.
- 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.
- 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.
- 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.
- 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.
- ALM Bothwell, JS Pober, JS Schechner, Vascularized human skin
equivalent, EP Patent ,1,499,181, 2005.
- 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.
- 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.
- MJ Villa, SA Henry. Cells engineered to contain genes of
interest, US Patent 7,129,079, 2006.
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Plant Genome Discovery
- 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
- 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.
- 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.
- 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.
- 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..
- 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.
- 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.
- David Wills and John Burke. QTL Analysis of the Early Domestication
of Sunflower. Genetics, 2007; doi:10.1534/genetics.107.075333.
- 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
- 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.
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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
- 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
- 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/ )
- 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/ )
- 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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