News   

Archives

• May 2008 issue of On the Spot e-newsletter now available
• April 2008 issue of On the Spot e-newsletter now available
• March 2008 issue of On the Spot e-newsletter now available
• Signature founders interviewed for Greater Spokane Incorporated Acceleration Report
• February 2008 issue of On the Spot e-newsletter now available
• Winter/January 2008 issue of On the Spot e-newsletter now available
• Signature microarray covers regions of the genome associated with autism
• Microdeletion syndrome discovered by Signature profiled in New York Times

Scientific Publications   

Archives

• In the middle of it all: a centered approach to chromosome analysis. Shaffer LG, Ballif BC, Theisen A, Rorem E, Bejjani BA, Torchia BA (2008) Expert Opin Med Diagn 2:1-8 (Request reprint)
• The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T (2007) Genet Med 9:607-616 (Request reprint)
• Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
  Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG (2007) Nat Genet 39:1071-1073
  
• The clinical utility of enhanced subtelomeric coverage in array CGH.
  Ballif BC, Sulpizio SG, Lloyd RM, Minier SL, Theisen A, Bejjani BA, Shaffer LG (2007) Am J Med Genet A 143:1850-1857
  Request reprint
• Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
  Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG (2007) Genet Med 9:150-162
  Request reprint
• Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis.
  Shaffer LG, Bui TH (2007) Am J Med Genet C Semin Med Genet 145:87-98
  Request reprint

Scientific Presentations   

Archives

• “The Use of Array CGH in Prenatal Diagnosis." February 7, 2007. Society for Maternal-Fetal Medicine 27th Annual Meeting, San Francisco, California.  Lisa G. Shaffer, Ph.D., FACMG.
• “Clinical Indications for Array CGH in Prenatal Diagnosis." October 11, 2006. American Society of Human Genetics 56th Annual Meeting, New Orleans, Louisiana. Bassem A. Bejjani, M.D., FACMG.
• “Experience with parental sample submission in abnormal array CGH cases: Is free parental testing helpful?" October 11, 2006. American Society of Human Genetics 56th Annual Meeting, New Orleans, Louisiana. Justine Coppinger, M.S., C.G.C.
• “Detection and characterization of supernumerary marker chromosomes by array CGH." October 11, 2006. American Society of Human Genetics 56th Annual Meeting, New Orleans, Louisiana. Blake Ballif, Ph.D.
• “The clinical utility of enhanced subtelomere coverage in array CGH." October 11, 2006. American Society of Human Genetics 56th Annual Meeting, New Orleans, Louisiana. Blake Ballif, Ph.D.

• “The Use of Array-based Comparative Genomic Hybridization to Identify Chromosome Abnormalities.” August 6th-10th, 2006. 11th International Congress of Human Genetics, Brisbane Convention and Exhibition Centre. Brisbane, Australia. Lisa G. Shaffer, Ph.D., FACMG.

• “High Throughput Strategies and Techniques for Genomics Research.” August 6th-10th, 2006. 11th International Congress of Human Genetics, Brisbane Convention and Exhibition Centre. Brisbane, Australia. Lisa G. Shaffer, Ph.D., FACMG.

Announcements

• Prenatal Diagnosis for cases meeting criteria
• We Bill Patient Insurance

New Resources

• Detection Rates Table
• Clone List