Karen Eilbeck

Human genetics, Eccles Institute of Human Genetics University of Utah and School of Medicine, USA 
"Karen Eilbeck"

Department of Human genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, Utah, USA

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Sant DW, Sinclair M, Mungall CJ, et al. (2021) Sequence ontology terminology for gene regulation. Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms. 194745
Ruiz-Schultz N, Sant D, Norcross S, et al. (2021) Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Lario R, Hasley S, White SA, et al. (2020) Utilization of BPM+ Health for the Representation of Clinical Knowledge: A Framework for the Expression and Assessment of Clinical Practice Guidelines (CPG) Utilizing Existing and Emerging Object Management Group (OMG) Standards. Amia ... Annual Symposium Proceedings. Amia Symposium. 2020: 687-696
Mejía-Almonte C, Busby SJW, Wade JT, et al. (2020) Redefining fundamental concepts of transcription initiation in bacteria. Nature Reviews. Genetics
Watkins M, Eilbeck K. (2020) FHIR Lab Reports: using SMART on FHIR and CDS Hooks to increase the clinical utility of pharmacogenomic laboratory test results. Amia Joint Summits On Translational Science Proceedings. Amia Joint Summits On Translational Science. 2020: 683-692
Watkins M, Rynearson S, Henrie A, et al. (2019) Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation. Amia ... Annual Symposium Proceedings. Amia Symposium. 2019: 1226-1235
Desvignes T, Loher P, Eilbeck K, et al. (2019) Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API. Bioinformatics (Oxford, England)
Zastrow DB, Baudet H, Shen W, et al. (2018) Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Human Mutation. 39: 1569-1580
Henrie A, Hemphill SE, Ruiz-Schultz N, et al. (2018) ClinVar miner: Demonstrating utility of a web-based tool for viewing and filtering clinvar data. Human Mutation
Flygare S, Hernandez EJ, Phan L, et al. (2018) The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool. Bmc Bioinformatics. 19: 57
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