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Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records
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JAMA | January 11, 2016 | Volume: 315 | Issue: 1 | Pages: 47
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
Loeys, Bart , Gerber, Elizabeth E. , Riegert‐Johnson, Douglas L. , Iqbal, Sarah , Whiteman, Pat, McConnell, Vivienne, Chillakuri, Chandramouli , Macaya, Daniela , Coucke, Paul , Paepe, Anne De , Judge, Daniel P. , Wigley, Fredrick M. , Mardon, Helen J., Handford, Penny A. , Keene, Douglas R. , Sakai, Lynn Y. , Dietz, Harry C. , Davis, Elise C. , Judge, Daniel P
Science Translational Medicine | March 17, 2010 | Volume: 2 | Issue: 23 | Pages: No page available
Stiff skin syndrome, an autosomal dominant congenital form of scleroderma, is caused by mutations in the domain of fibrillin-1 that mediates integrin binding.
Medical Errors Related to Inappropriate Genetic Testing in Liver Transplant Patients
Riegert‐Johnson, Douglas L. , Macaya, Daniela , Hefferon, Timothy , Boardman, Lisa A., Boardman, Lisa A.
Genetic Testing | January 15, 2008 | Volume: 11 | Issue: 4 | Pages: 451-454