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  • Sharon E. Plon, Diana M Eccles, +7 authors Sean V. Tavtigian
  • Medicine, Biology
  • Human mutation
  • 2008 (First Publication: 1 November 2008)
  • Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk of developing cancer. In general, sequence-based testing of germline DNA is used to determineContinue Reading
  • Bryony A Thompson, Amanda B. Spurdle, +38 authors Maurizio Genuardi
  • Medicine, Biology
  • Nature Genetics
  • 2014 (First Publication: 1 February 2014)
  • The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society forContinue Reading
  • Philip A Chan, Sekhar Duraisamy, +10 authors Marc S. Greenblatt
  • Medicine, Biology
  • Human mutation
  • 2007 (First Publication: 1 July 2007)
  • The human genome contains frequent single-basepair variants that may or may not cause genetic disease. To characterize benign vs. pathogenic missense variants, numerous computational algorithms haveContinue Reading
  • Marc S. Greenblatt, Pierre O Chappuis, Jeffrey P. Bond, Nancy Hamel, William D. Foulkes
  • Biology, Medicine
  • Cancer research
  • 2001 (First Publication: 15 May 2001)
  • Several groups have studied the molecular pathology of inherited breast cancer. By combining several such studies, we show in this study that somatic TP53 abnormalities are more common in breastContinue Reading