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Macaya, Daniela

https://orcid.org/0000-0001-6373-5416

A5059032115 | I111552434

Mayo Clinic

GeneDx, Gaithersburg, Maryland

Citations 3

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

JAMA | January 11, 2016 | Volume: 315 | Issue: 1 | Pages: 47

10.1001/jama.2015.17701 | PMID 26746457

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

Science Translational Medicine | March 17, 2010 | Volume: 2 | Issue: 23 | Pages: No page available

10.1126/scitranslmed.3000488 | PMID 20375004

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

Genetic Testing | January 15, 2008 | Volume: 11 | Issue: 4 | Pages: 451-454

10.1089/gte.2007.0052 | PMID 18294063