Home   GBrowse   Clinical Data   Data Tables   Download   Resources   Links   For Families

Relevant publications

• Feuk L, Macdonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW.
  Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
  PLoS Genet. 2005 Oct;1(4):e56. Epub 2005 Oct 28.
  PMID: 16254605
  
  
• Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, Macdonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW.
  Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy.
  Am J Hum Genet. 2005 Jan 11;76(3) [Epub ahead of print]
  PMID: 15645389
  
  
• Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.
  Human chromosome 7: DNA sequence and biology.
  Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.
  PMID: 12690205
  
  
• Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C.
  Detection of large-scale variation in the human genome.
  Nat Genet. 2004 Aug 1 [Epub ahead of print]
  PMID: 15286789
  
  
• Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X.
  Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
  Hum Mol Genet. 2003 Sep 1;12(17):2201-8. Epub 2003 Jul 08.
  PMID: 12915466
  
  
• Cheung J, Wilson MD, Zhang J, Khaja R, MacDonald JR, Heng HH, Koop BF, Scherer SW.
  Recent segmental and gene duplications in the mouse genome.
  Genome Biol. 2003;4(8):R47. Epub 2003 Jul 09.
  PMID: 12914656
  
  
• Hudek AK, Cheung J, Boright AP, Scherer SW.
  Genescript: DNA sequence annotation pipeline.
  Bioinformatics. 2003 Jun 12;19(9):1177-8.
  PMID: 12801881
  
  
• Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW.
  Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
  Genome Biol. 2003;4(4):R25. Epub 2003 Mar 17.
  PMID: 12702206