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Susan A. Lagerstedt

Mayo Clinic

15

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670

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Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar

2019 European Journal of Human Genetics
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Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade

2016 The Journal of Molecular Diagnostics
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Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.

2015 The Journal of Molecular Diagnostics
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Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events

2015 Genetics in Medicine
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Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

2015 Journal of Human Genetics
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Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis

2014 Journal of Clinical Apheresis
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UGT1A1 Genetic Analysis as a Diagnostic Aid for Individuals with Unconjugated Hyperbilirubinemia

2013 The Journal of Pediatrics
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Iconography : UGT1A1 Genetic Analysis as a Diagnostic Aid for Individuals with Unconjugated Hyperbilirubinemia

2013 The Journal of Pediatrics
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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

2009 European Journal of Human Genetics
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Measurement of Plasma Free Metanephrine and Normetanephrine by Liquid Chromatography–Tandem Mass Spectrometry for Diagnosis of Pheochromocytoma

2004 Clinical Chemistry
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Citations (104)