Susan A. Lagerstedt
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View article: Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar Open
Gene-specific knowledge can enhance genetic variant classification, but may not be routinely incorporated into clinical laboratory practice. For example, FBN1 variants associated with Marfan syndrome may be variably classified depending on…
View article: Preemptive Pharmacogenomic Testing for Precision Medicine
Preemptive Pharmacogenomic Testing for Precision Medicine Open
View article: Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants Open