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Vol. 12, Issue 3, 436-446, March 2002
LETTER
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  A. P. Reiner, C. S. Carlson, B. Thyagarajan, M. J. Rieder, J. F. Polak, D. S. Siscovick, D. A. Nickerson, D. R. Jacobs Jr, and M. D. Gross Soluble P-Selectin, SELP Polymorphisms, and Atherosclerotic Risk in European-American and African-African Young Adults: The Coronary Artery Risk Development in Young Adults (CARDIA) Study Arterioscler. Thromb. Vasc. Biol., August 1, 2008; 28(8): 1549 - 1555. [Abstract] [Full Text] [PDF]
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 K. Sleegers, N. Brouwers, S. Maurer-Stroh, M. A. van Es, P. V. Damme, P.W.J. van Vught, J. van der Zee, S. Serneels, T. D. Pooter, M. Van den Broeck, et al. Progranulin genetic variability contributes to amyotrophic lateral sclerosis Neurology, July 22, 2008; 71(4): 253 - 259. [Abstract] [Full Text] [PDF]
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 I. Feldman, A. Rzhetsky, and D. Vitkup Network properties of genes harboring inherited disease mutations PNAS, March 18, 2008; 105(11): 4323 - 4328. [Abstract] [Full Text] [PDF]
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 R. J. Hung, M. Baragatti, D. Thomas, J. McKay, N. Szeszenia-Dabrowska, D. Zaridze, J. Lissowska, P. Rudnai, E. Fabianova, D. Mates, et al. Inherited Predisposition of Lung Cancer: A Hierarchical Modeling Approach to DNA Repair and Cell Cycle Control Pathways Cancer Epidemiol. Biomarkers Prev., December 1, 2007; 16(12): 2736 - 2744. [Abstract] [Full Text] [PDF]
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 A. Torkamani and N. J. Schork Accurate prediction of deleterious protein kinase polymorphisms Bioinformatics, November 1, 2007; 23(21): 2918 - 2925. [Abstract] [Full Text] [PDF]
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 S. M. Holland, F. R. DeLeo, H. Z. Elloumi, A. P. Hsu, G. Uzel, N. Brodsky, A. F. Freeman, A. Demidowich, J. Davis, M. L. Turner, et al. STAT3 Mutations in the Hyper-IgE Syndrome N. Engl. J. Med., October 18, 2007; 357(16): 1608 - 1619. [Abstract] [Full Text] [PDF]
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 A. Matakidou, R. el Galta, E. L. Webb, M. F. Rudd, H. Bridle, the GELCAPS Consortium, T. Eisen, and R. S. Houlston Genetic variation in the DNA repair genes is predictive of outcome in lung cancer Hum. Mol. Genet., October 1, 2007; 16(19): 2333 - 2340. [Abstract] [Full Text] [PDF]
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 M. G. Kann Protein interactions and disease: computational approaches to uncover the etiology of diseases Brief Bioinform, September 1, 2007; 8(5): 333 - 346. [Abstract] [Full Text] [PDF]
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 F. Alkassab, P. Gourh, F. K. Tan, T. McNearney, M. Fischbach, C. Ahn, F. C. Arnett, and M. D. Mayes An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis Rheumatology, August 1, 2007; 46(8): 1248 - 1251. [Abstract] [Full Text] [PDF]
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 J. S. Kaminker, Y. Zhang, C. Watanabe, and Z. Zhang CanPredict: a computational tool for predicting cancer-associated missense mutations Nucleic Acids Res., July 13, 2007; 35(suppl_2): W595 - W598. [Abstract] [Full Text] [PDF]
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J. A. Douglas, A. M. Levin, K. A. Zuhlke, A. M. Ray, G. R. Johnson, E. M. Lange, D. P. Wood, and K. A. Cooney Common Variation in the BRCA1 Gene and Prostate Cancer Risk Cancer Epidemiol. Biomarkers Prev., July 1, 2007; 16(7): 1510 - 1516. [Abstract] [Full Text] [PDF]
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Y. Bromberg and B. Rost SNAP: predict effect of non-synonymous polymorphisms on function Nucleic Acids Res., June 28, 2007; 35(11): 3823 - 3835. [Abstract] [Full Text] [PDF]
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 P. Kaurah, A. MacMillan, N. Boyd, J. Senz, A. De Luca, N. Chun, G. Suriano, S. Zaor, L. Van Manen, C. Gilpin, et al. Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer JAMA, June 6, 2007; 297(21): 2360 - 2372. [Abstract] [Full Text] [PDF]
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 S. Savas, I. W. Taylor, J. L. Wrana, and H. Ozcelik Functional nonsynonymous single nucleotide polymorphisms from the TGF-{beta} protein interaction network Physiol Genomics, April 24, 2007; 29(2): 109 - 117. [Abstract] [Full Text] [PDF]
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 F. Gedge, J. McDonald, A. Phansalkar, L.-S. Chou, F. Calderon, R. Mao, E. Lyon, and P. Bayrak-Toydemir Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations J. Mol. Diagn., April 1, 2007; 9(2): 258 - 265. [Abstract] [Full Text] [PDF]
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 M. Wrensch, A. McMillan, J. Wiencke, J. Wiemels, K. Kelsey, J. Patoka, H. Jones, V. Carlton, R. Miike, J. Sison, et al. Nonsynonymous Coding Single-Nucleotide Polymorphisms Spanning the Genome in Relation to Glioblastoma Survival and Age at Diagnosis Clin. Cancer Res., January 1, 2007; 13(1): 197 - 205. [Abstract] [Full Text] [PDF]
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 P. D. James, C. Notley, C. Hegadorn, J. Leggo, A. Tuttle, S. Tinlin, C. Brown, C. Andrews, A. Labelle, Y. Chirinian, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study Blood, January 1, 2007; 109(1): 145 - 154. [Abstract] [Full Text] [PDF]
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E. Capriotti, R. Calabrese, and R. Casadio Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information Bioinformatics, November 15, 2006; 22(22): 2729 - 2734. [Abstract] [Full Text] [PDF]
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 K. K. Abu-Amero and T. M. Bosley Mitochondrial Abnormalities in Patients with LHON-like Optic Neuropathies. Invest. Ophthalmol. Vis. Sci., October 1, 2006; 47(10): 4211 - 4220. [Abstract] [Full Text] [PDF]
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 N L Prigoda, S Savas, S A Abdalla, B Piovesan, D Rushlow, K Vandezande, E Zhang, H Ozcelik, B L Gallie, and M Letarte Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations J. Med. Genet., September 1, 2006; 43(9): 722 - 728. [Abstract] [Full Text] [PDF]
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 R. J. Hung, P. Boffetta, F. Canzian, N. Moullan, N. Szeszenia-Dabrowska, D. Zaridze, J. Lissowska, P. Rudnai, E. Fabianova, D. Mates, et al. Sequence Variants in Cell Cycle Control Pathway, X-ray Exposure, and Lung Cancer Risk: A Multicenter Case-Control Study in Central Europe Cancer Res., August 15, 2006; 66(16): 8280 - 8286. [Abstract] [Full Text] [PDF]
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B. J. Till, T. Zerr, E. Bowers, E. A. Greene, L. Comai, and S. Henikoff High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling Nucleic Acids Res., August 7, 2006; 34(13): e99 - e99. [Abstract] [Full Text] [PDF]
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 C. Balsalobre, J. Johansson, and B. E. Uhlin Cyclic AMP-Dependent Osmoregulation of crp Gene Expression in Escherichia coli. J. Bacteriol., August 1, 2006; 188(16): 5935 - 5944. [Abstract] [Full Text] [PDF]
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K. K. Abu-Amero, J. Morales, and T. M. Bosley Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci., June 1, 2006; 47(6): 2533 - 2541. [Abstract] [Full Text] [PDF]
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H. Gorgens, S. Kruger, E. Kuhlisch, C. Pagenstecher, R. Hohl, H. K. Schackert, and A. Muller Microsatellite Stable Colorectal Cancers in Clinically Suspected Hereditary Nonpolyposis Colorectal Cancer Patients without Vertical Transmission of Disease Are Unlikely to Be Caused by Biallelic Germline Mutations in MYH J. Mol. Diagn., May 1, 2006; 8(2): 178 - 182. [Abstract] [Full Text] [PDF]
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E. Mathe, M. Olivier, S. Kato, C. Ishioka, P. Hainaut, and S. V. Tavtigian Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods Nucleic Acids Res., March 6, 2006; 34(5): 1317 - 1325. [Abstract] [Full Text] [PDF]
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 T. J. Urban, R. Sebro, E. H. Hurowitz, M. K. Leabman, I. Badagnani, L. L. Lagpacan, N. Risch, and K. M. Giacomini Functional genomics of membrane transporters in human populations Genome Res., February 1, 2006; 16(2): 223 - 230. [Abstract] [Full Text] [PDF]
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M. F. Rudd, R. D. Williams, E. L. Webb, S. Schmidt, G. S. Sellick, and R. S. Houlston The Predicted Impact of Coding Single Nucleotide Polymorphisms Database Cancer Epidemiol. Biomarkers Prev., November 1, 2005; 14(11): 2598 - 2604. [Abstract] [Full Text] [PDF]
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 M. Wrensch, K. T. Kelsey, M. Liu, R. Miike, M. Moghadassi, J. D. Sison, K. Aldape, A. McMillan, J. Wiemels, and J. K. Wiencke ERCC1 and ERCC2 polymorphisms and adult glioma Neuro-oncol, October 1, 2005; 7(4): 495 - 507. [Abstract] [PDF]
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M. O. Woods, A. J. Hyde, F. K. Curtis, S. Stuckless, J. S. Green, A. F. Pollett, J. D. Robb, R. C. Green, M. E. Croitoru, A. Careen, et al. High Frequency of Hereditary Colorectal Cancer in Newfoundland Likely Involves Novel Susceptibility Genes Clin. Cancer Res., October 1, 2005; 11(19): 6853 - 6861. [Abstract] [Full Text] [PDF]
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 K. Bleasby, L. A. Hall, J. L. Perry, H. W. Mohrenweiser, and J. B. Pritchard Functional Consequences of Single Nucleotide Polymorphisms in the Human Organic Anion Transporter hOAT1 (SLC22A6) J. Pharmacol. Exp. Ther., August 1, 2005; 314(2): 923 - 931. [Abstract] [Full Text] [PDF]
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C. Ferrer-Costa, J. L. Gelpi, L. Zamakola, I. Parraga, X. de la Cruz, and M. Orozco PMUT: a web-based tool for the annotation of pathological mutations on proteins Bioinformatics, July 15, 2005; 21(14): 3176 - 3178. [Abstract] [Full Text] [PDF]
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E. A. Stone and A. Sidow Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity Genome Res., July 1, 2005; 15(7): 978 - 986. [Abstract] [Full Text] [PDF]
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 A. L. Hughes, B. Packer, R. Welch, A. W. Bergen, S. J. Chanock, and M. Yeager Effects of Natural Selection on Interpopulation Divergence at Polymorphic Sites in Human Protein-Coding Loci Genetics, July 1, 2005; 170(3): 1181 - 1187. [Abstract] [Full Text] [PDF]
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R. Karchin, M. Diekhans, L. Kelly, D. J. Thomas, U. Pieper, N. Eswar, D. Haussler, and A. Sali LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources Bioinformatics, June 15, 2005; 21(12): 2814 - 2820. [Abstract] [Full Text] [PDF]
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M. M. Johnson, J. Houck, and C. Chen Screening for Deleterious Nonsynonymous Single-Nucleotide Polymorphisms in Genes Involved in Steroid Hormone Metabolism and Response Cancer Epidemiol. Biomarkers Prev., May 1, 2005; 14(5): 1326 - 1329. [Abstract] [Full Text] [PDF]
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H. Rennert, C. M. Zeigler-Johnson, K. Addya, M. J. Finley, A. H. Walker, E. Spangler, D. G.B. Leonard, A. Wein, S. B. Malkowicz, and T. R. Rebbeck Association of Susceptibility Alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with Prostate Cancer Severity in European American and African American Men Cancer Epidemiol. Biomarkers Prev., April 1, 2005; 14(4): 949 - 957. [Abstract] [Full Text] [PDF]
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S. Balasubramanian, Y. Xia, E. Freinkman, and M. Gerstein Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms Nucleic Acids Res., March 22, 2005; 33(5): 1710 - 1721. [Abstract] [Full Text] [PDF]
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M. Blanchette, E. D. Green, W. Miller, and D. Haussler Reconstructing large regions of an ancestral mammalian genome in silico Genome Res., December 1, 2004; 14(12): 2412 - 2423. [Abstract] [Full Text] [PDF]
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P. D. Thomas and A. Kejariwal Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects PNAS, October 26, 2004; 101(43): 15398 - 15403. [Abstract] [Full Text] [PDF]
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E. Y. Zhang, D.-J. Fu, Y. A. Pak, T. Stewart, N. Mukhopadhyay, S. A. Wrighton, and K. M. Hillgren Genetic Polymorphisms in Human Proton-Dependent Dipeptide Transporter PEPT1: Implications for the Functional Role of Pro586 J. Pharmacol. Exp. Ther., August 1, 2004; 310(2): 437 - 445. [Abstract] [Full Text] [PDF]
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B. M.G. Smits, B. F.M. van Zutphen, R. H.A. Plasterk, and E. Cuppen Genetic Variation in Coding Regions Between and Within Commonly Used Inbred Rat Strains Genome Res., July 1, 2004; 14(7): 1285 - 1290. [Abstract] [Full Text] [PDF]
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V. Guryev, E. Berezikov, R. Malik, R. H.A. Plasterk, and E. Cuppen Single Nucleotide Polymorphisms Associated With Rat Expressed Sequences Genome Res., July 1, 2004; 14(7): 1438 - 1443. [Abstract] [Full Text] [PDF]
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V Abkevich, A Zharkikh, A M Deffenbaugh, D Frank, Y Chen, D Shattuck, M H Skolnick, A Gutin, and S V Tavtigian Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation J. Med. Genet., July 1, 2004; 41(7): 492 - 507. [Abstract] [Full Text] [PDF]
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A R Brooks-Wilson, P Kaurah, G Suriano, S Leach, J Senz, N Grehan, Y S N Butterfield, J Jeyes, J Schinas, J Bacani, et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria J. Med. Genet., July 1, 2004; 41(7): 508 - 517. [Abstract] [Full Text] [PDF]
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O. Poirot, K. Suhre, C. Abergel, E. O'Toole, and C. Notredame 3DCoffee@igs: a web server for combining sequences and structures into a multiple sequence alignment Nucleic Acids Res., July 1, 2004; 32(suppl_2): W37 - W40. [Abstract] [Full Text] [PDF]
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S. Savas, D. Y. Kim, M. F. Ahmad, M. Shariff, and H. Ozcelik Identifying Functional Genetic Variants in DNA Repair Pathway Using Protein Conservation Analysis Cancer Epidemiol. Biomarkers Prev., May 1, 2004; 13(5): 801 - 807. [Abstract] [Full Text] [PDF]
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P. A. Kanetsky, F. Ge, D. Najarian, J. Swoyer, S. Panossian, L. Schuchter, R. Holmes, D. Guerry, and T. R. Rebbeck Assessment of Polymorphic Variants in the Melanocortin-1 Receptor Gene with Cutaneous Pigmentation Using an Evolutionary Approach Cancer Epidemiol. Biomarkers Prev., May 1, 2004; 13(5): 808 - 819. [Abstract] [Full Text] [PDF]
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A. Y. Lau and D. I. Chasman Functional classification of proteins and protein variants PNAS, April 27, 2004; 101(17): 6576 - 6581. [Abstract] [Full Text] [PDF]
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Y. Zhu, M. R. Spitz, C. I. Amos, J. Lin, M. B. Schabath, and X. Wu An Evolutionary Perspective on Single-Nucleotide Polymorphism Screening in Molecular Cancer Epidemiology Cancer Res., March 15, 2004; 64(6): 2251 - 2257. [Abstract] [Full Text] [PDF]
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N. O. Stitziel, T. A. Binkowski, Y. Y. Tseng, S. Kasif, and J. Liang topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association Nucleic Acids Res., January 1, 2004; 32(90001): D520 - 522. [Abstract] [Full Text] [PDF]
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A. L. Hughes, B. Packer, R. Welch, A. W. Bergen, S. J. Chanock, and M. Yeager Widespread purifying selection at polymorphic sites in human protein-coding loci PNAS, December 23, 2003; 100(26): 15754 - 15757. [Abstract] [Full Text] [PDF]
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V. Lamba, J. Lamba, K. Yasuda, S. Strom, J. Davila, M. L. Hancock, J. D. Fackenthal, P. K. Rogan, B. Ring, S. A. Wrighton, et al. Hepatic CYP2B6 Expression: Gender and Ethnic Differences and Relationship to CYP2B6 Genotype and CAR (Constitutive Androstane Receptor) Expression J. Pharmacol. Exp. Ther., December 1, 2003; 307(3): 906 - 922. [Abstract] [Full Text] [PDF]
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P. D. Thomas, M. J. Campbell, A. Kejariwal, H. Mi, B. Karlak, R. Daverman, K. Diemer, A. Muruganujan, and A. Narechania PANTHER: A Library of Protein Families and Subfamilies Indexed by Function Genome Res., September 1, 2003; 13(9): 2129 - 2141. [Abstract] [Full Text] [PDF]
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O. Poirot, E. O'Toole, and C. Notredame Tcoffee@igs: a web server for computing, evaluating and combining multiple sequence alignments Nucleic Acids Res., July 1, 2003; 31(13): 3503 - 3506. [Abstract] |
