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Author Details

Karen E Weck
University of North Carolina at Chapel Hill
1987
109
40
PMIDPaper TitleJournal TitlePublished Year
37126546Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.Sci Adv2023
37326029Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.Genet Med2023
35938028Public Interest in Population Genetic Screening for Cancer Risk.Front Genet2022
35629115The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation.J Pers Med2022
32897581Impact of the CYP2C19*17 Allele on Outcomes in Patients Receiving Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.Clin Pharmacol Ther2021
36218899The Role of Clinical Laboratories in Emerging Pathogens-Insights From the COVID-19 Pandemic.JAMA Health Forum2021
34242414Effects of aging on clinical outcomes in patients receiving genotype-guided P2Y12 inhibitor selection after percutaneous coronary intervention.Pharmacotherapy2021
33252176Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.Hum Mutat2021
31316169Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting.Genet Med2020
31747025PIK3CA Mutation in HPV-Associated OPSCC Patients Receiving Deintensified Chemoradiation.J Natl Cancer Inst2020
31974414An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.Genet Med2020
32938199Effect of Gender on Clinical Outcomes in Patients Receiving <i>CYP2C19</i> Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.Circ Genom Precis Med2020
32853555Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.Am J Hum Genet2020
32555414Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.Genet Med2020
32150456Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing.Arch Pathol Lab Med2020
32380173Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the College of American Pathologists.J Mol Diagn2020
32457518Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR).Eur J Hum Genet2020
32343201Projected impact of pharmacogenomic testing on medications beyond antiplatelet therapy in percutaneous coronary intervention patients.Pharmacogenomics2020
32125936Assessing the implications of positive genomic screening results.Per Med2020
30383393The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3.Arch Pathol Lab Med2019
31682783Pseudolinear C4d deposits in a hereditary glomerulopathy caused by a rare NC1 collagen-4-alpha-5 missense mutation: a "new disease entity"?Ultrastruct Pathol2019
31942545Acute Myeloid Leukemia with Co-mutated <i>ASXL1</i> and <i>SRSF2</i> Exhibits Monocytic Differentiation and has a Mutational Profile Overlapping with Chronic Myelomonocytic Leukemia.Hemasphere2019
30779635CYP2C19 Genotype-Guided Antiplatelet Therapy and 30-Day Outcomes After Percutaneous Coronary Intervention.Circ Genom Precis Med2019
31075510Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists.J Mol Diagn2019
28661487CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.Genet Med2018
30238669The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.Pediatr Pulmonol2018
30275001Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.Cold Spring Harb Mol Case Stud2018
29474986Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.J Mol Diagn2018
29388946Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.Genet Med2018
29615454Clinical Outcomes and Sustainability of Using <i>CYP2C19</i> Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.Circ Genom Precis Med2018
29417091Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.Neurol Genet2018
29593351"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.Genet Med2018
29153866A Phase I Trial of the PI3K Inhibitor Buparlisib Combined With Capecitabine in Patients With Metastatic Breast Cancer.Clin Breast Cancer2018
29102571Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.JACC Cardiovasc Interv2018
29249243Identification of Germline Variants in Tumor Genomic Sequencing Analysis.J Mol Diagn2018
27811861A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Genet Med2017
32913973Comprehensive Molecular Characterization of Urachal Adenocarcinoma Reveals Commonalities With Colorectal Cancer, Including a Hypermutable Phenotype.JCO Precis Oncol2017
28362156Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.Arch Pathol Lab Med2017
28322587Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.Arch Pathol Lab Med2017
28877533Comprehensive assessment of cytochromes P450 and transporter genetics with endoxifen concentration during tamoxifen treatment.Pharmacogenet Genomics2017
28557596The Next Generation of Molecular Pathology is Here: Validation of Next-Generation Sequencing Technology for Clinical Molecular Testing Across Multiple Different Disciplines.Arch Pathol Lab Med2017
28611029Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.Circ Cardiovasc Genet2017
28518170Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.Genet Med2017
26882436FNA smears as a potential source of DNA for targeted next-generation sequencing of lung adenocarcinomas.Cancer Cytopathol2016
26270767A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.Genet Med2016
26371432Identification of Human Papillomavirus Infection in Cancer Tissue by Targeted Next-generation Sequencing.Appl Immunohistochem Mol Morphol2016
27537703A panoramic view of the accuracy of molecular genetic testing.Genet Med2016
27124787Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.Genet Med2016
27392080Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
27226358Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity.Oncologist2016
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Collaborators

James P Evans
University of North Carolina
Co-authored papers 19
Jonathan S Berg
University of North Carolina
Co-authored papers 18
Kirk C Wilhelmsen
West Virginia University
Co-authored papers 11
Natasha T Strande
USA Autism and Developmental Medicine Institute
Co-authored papers 9
Gail E Henderson
University of North Carolina-Chapel Hill
Co-authored papers 7
Howard L McLeod
Center for Precision Medicine and Functional Genomics, Utah Tech University
Co-authored papers 7
Victoria M Pratt
Indiana University School of Medicine
Co-authored papers 6
David Neil Hayes
Center for Cancer Research, University of Tennessee Health Science Center
Co-authored papers 6
Larisa H Cavallari
Department of Pharmacotherapy and Translational Research, University of Florida
Co-authored papers 6
Lisa A Carey
Co-authored papers 5
Sharon E Plon
Baylor College of Medicine
Co-authored papers 5
Heidi L Rehm
The Broad Institute of MIT and Harvard
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Lucia A Hindorff
National Human Genome Research Institute, National Institutes of Health
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Gail P Jarvik
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Joel S Parker
Lineberger Cancer Center, University of North Carolina
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Lori A Ramkissoon
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Katrina A B Goddard
Center for Health Research, Kaiser Permanente Northwest
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Laura M Amendola
Illumina Inc.
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Peter Tarczy-Hornoch
University of Washington School of Medicine, University of Washington
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Stacy W Gray
City of Hope Comprehensive Cancer Center
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Stuart A Scott
Stanford University
Co-authored papers 4
Joseph G Ibrahim
University of North Carolina
Co-authored papers 4
Chris Bizon
Renaissance Computing Institute (RENCI), University of North Carolina at Chapel Hill
Co-authored papers 4
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 4
Brian H Shirts
Institute for Public Health Genetics, University of Washington
Co-authored papers 4
Kevin M Bowling
Washington University School of Medicine
Co-authored papers 3
Julie A Johnson
Department of Pharmacotherapy and Translational Research, University of Florida
Co-authored papers 3
Joseph S Salama
Institute for Health Metrics and Evaluation, University of Washington
Co-authored papers 3
Jeffrey Peppercorn
Massachusetts General Hospital, Harvard Medical School
Co-authored papers 3
Levi A Garraway
Broad Institute of Harvard and MIT
Co-authored papers 3
Release 1.2