Katrina E. Kotzer
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View article: P776: Classification of c.293-7C>G in the CYP21A2 gene: Contributor to congenital adrenal hyperplasia or simply a passenger variant?
P776: Classification of c.293-7C>G in the CYP21A2 gene: Contributor to congenital adrenal hyperplasia or simply a passenger variant? Open
View article: P747: The collection and use of patient sex, gender, race, ethnicity, and ancestry data among US-based clinical genomics laboratories
P747: The collection and use of patient sex, gender, race, ethnicity, and ancestry data among US-based clinical genomics laboratories Open
View article: Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel Open
View article: Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study
Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study Open
View article: Targeted Genotyping in Clinical Pharmacogenomics
Targeted Genotyping in Clinical Pharmacogenomics Open
View article: NEJM Knowledge+/AACC Learning Lab Contributors 2021
NEJM Knowledge+/AACC Learning Lab Contributors 2021 Open
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: Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death
Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death Open
Background— Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquit…
View article: The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting
The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting Open
Ethical dilemmas are encountered commonly in the setting of the clinical genetic testing laboratory due to the complexity of genetic testing and the number of relevant stakeholders involved in the genetic testing process. Based on their cl…
View article: A Case for Inclusion of Genetic Counselors in Cardiac Care
A Case for Inclusion of Genetic Counselors in Cardiac Care Open
Recent advances in genetic testing for heritable cardiac diseases have led to an increasing involvement of the genetic counselor in cardiology practice. We present a series of cases collected from a nationwide query of genetics professiona…
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