Karl V Voelkerding

Karl V Voelkerding

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Karl V Voelkerding

Karl V Voelkerding

Publications by authors named "Karl V Voelkerding"

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53Publications

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Evaluation of Mass Cytometry in the Clinical Laboratory.

Cytometry B Clin Cytom 2019 Jul 7;96(4):266-274. Epub 2019 Jun 7.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/cyto.b.21791DOI Listing
July 2019

Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Child Neurol Open 2018 23;5:2329048X18789282. Epub 2018 Jul 23.

Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1177/2329048X18789282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056774PMC
July 2018

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.

J Mol Diagn 2018 01 21;20(1):4-27. Epub 2017 Nov 21.

Next Generation Sequencing Bioinformatics Pipeline Validation Working Group of the Clinical Practice Committee, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, Children's Healthcare of Atlanta, Atlanta, Georgia.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173037
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http://dx.doi.org/10.1016/j.jmoldx.2017.11.003DOI Listing
January 2018

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Arch Pathol Lab Med 2017 Jun 21;141(6):787-797. Epub 2017 Mar 21.

From the Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Drs Santani, Murrell, and Yu); the Department of Pathology, MGH/Harvard Medical School, Boston, Massachusetts (Dr Funke); the Laboratory for Molecular Medicine at Partners HealthCare, Personalized Medicine, Cambridge, Massachusetts (Dr Funke); the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology (Dr Mao) and the Department of Pathology (Dr Voelkerding), University of Utah School of Medicine, Salt Lake City; the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); Genomics and Bioinformatics, ARUP Laboratories, Salt Lake City, Utah (Dr Voelkerding); and the Department of Pathology and Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0517-RADOI Listing
June 2017

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Arch Pathol Lab Med 2017 Jun 31;141(6):798-805. Epub 2017 Mar 31.

From the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Dr Santani); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology, and University of Utah School of Medicine, Salt Lake City (Drs Mao and Voelkerding); the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); and the Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0622-RADOI Listing
June 2017

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.

J Mol Diagn 2017 05 21;19(3):341-365. Epub 2017 Mar 21.

Next-Generation Sequencing Analytical Validation Working Group of the Clinical Practice Committee, Bethesda, Maryland; University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1016/j.jmoldx.2017.01.011DOI Listing
May 2017

A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing.

Arch Pathol Lab Med 2016 Oct 7;140(10):1085-91. Epub 2016 Jul 7.

From the Departments of Pathology (Drs Duncavage and Pfeifer) and Genetics (Dr Abel), Washington University School of Medicine, St Louis, Missouri; the Department of Pathology (Dr Merker), Stanford University School of Medicine, Stanford, California; Product Development, Laboratory Improvement Program (Mr Bodner), and the Surveys Department (Dr Zhao), College of American Pathologists, Northfield, Illinois; and the Department of Pathology and ARUP Laboratories, University of Utah, Salt Lake City (Dr Voelkerding).

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http://dx.doi.org/10.5858/arpa.2016-0194-CPDOI Listing
October 2016

Design of a Genomics Curriculum: Competencies for Practicing Pathologists.

Arch Pathol Lab Med 2015 Jul;139(7):894-900

From the Department of Pathology, University of Arkansas for Medical Sciences, Little Rock (Dr Laudadio);

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http://dx.doi.org/10.5858/arpa.2014-0253-CPDOI Listing
July 2015

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Arch Pathol Lab Med 2015 Apr 25;139(4):481-93. Epub 2014 Aug 25.

From Molecular Medicine (Dr Aziz), Laboratory Improvement Programs (Dr Zhao and Ms Palicki), and Laboratory Accreditation and Regulatory Affairs (Ms Driscoll), College of American Pathologists, Northfield, Illinois; the Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts (Dr Bry); the Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts (Dr Funke); the Department of Clinical Sciences, University of Central Florida College of Medicine, Orlando (Dr Gibson); the Divisions of Medical Genetics and Molecular Diagnostics, Department of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, California (Dr Grody); the Department of Human Genetics, Emory University School of Medicine, Decatur, Georgia (Dr Hegde); Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio (Dr Hoeltge); the Department of Pathology, University of Vermont College of Medicine, Burlington (Dr Leonard); the Departments of Pathology (Drs Merker and Schrijver) and Pediatrics (Dr Schrijver), Stanford University School of Medicine, Stanford, California; the Department of Pathology & Immunology, Washington University School of Medicine, St Louis, Missouri (Dr Nagarajan); the Department of Laboratory Medicine & Pathology, Mayo Clinic in Arizona, Phoenix (Dr Robetorye); the Departments of Pathology & Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill, Chapel Hill (Dr Weck); and ARUP Laboratories Institute for Clinical and Experimental Pathology, and Department of Pathology, University of Utah School of Medicine, Salt Lake City (Dr Voelkerding). Dr Aziz is now with Phoenix Children's Hospital, Phoenix, Arizona.

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http://dx.doi.org/10.5858/arpa.2014-0250-CPDOI Listing
April 2015

Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels.

Biotechniques 2014 Oct 1;57(4):204-7. Epub 2014 Oct 1.

ARUP Institute for Clinical and Experimental Pathology, 84108, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, 84112, Salt Lake City, UT.

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http://dx.doi.org/10.2144/000114217DOI Listing
October 2014

Methods-based proficiency testing in molecular genetic pathology.

J Mol Diagn 2014 May 18;16(3):283-7. Epub 2014 Mar 18.

Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1016/j.jmoldx.2014.02.002DOI Listing
May 2014

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

Am J Hum Genet 2014 Apr;94(4):599-610

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Utah Science, Technology, and Research Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980410PMC
April 2014

Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.

Arch Pathol Lab Med 2013 Mar 7;137(3):415-33. Epub 2012 Jul 7.

Research and Development, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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http://www.archivesofpathology.org/doi/abs/10.5858/arpa.2012
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http://dx.doi.org/10.5858/arpa.2012-0107-RADOI Listing
March 2013

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

J Clin Bioinforma 2013 Jan 23;3(1). Epub 2013 Jan 23.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1186/2043-9113-3-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563502PMC
January 2013

Translating exome sequencing from research to clinical diagnostics.

Clin Chem Lab Med 2011 Dec 23;50(7):1161-8. Epub 2011 Dec 23.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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https://www.degruyter.com/view/j/cclm.2012.50.issue-7/cclm-2
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http://dx.doi.org/10.1515/cclm-2011-0841DOI Listing
December 2011

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

J Biomol Tech 2011 Jul;22(2):74-84

ARUP Institute for Clinical & Experimental Pathology®, Salt Lake City, Utah, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121147PMC
July 2011

Nucleotide extension genotyping by high-resolution melting.

J Mol Diagn 2010 Nov 16;12(6):731-8. Epub 2010 Sep 16.

Associated Regional and University Pathologists (ARUP) Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108-1221, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.090149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2963919PMC
November 2010

Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

J Biomol Tech 2010 Jul;21(2):73-80

ARUP Laboratories for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884316PMC
July 2010

Mycobacterium tuberculosis complex differentiation by genomic deletion patterns with multiplex polymerase chain reaction and melting analysis.

Diagn Microbiol Infect Dis 2010 May 12;67(1):101-5. Epub 2010 Mar 12.

Institute for Clinical and Experimental Pathology, Associated Regional and University Pathologists, Inc., Salt Lake City, UT 84108, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S07328893090050
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http://dx.doi.org/10.1016/j.diagmicrobio.2009.12.014DOI Listing
May 2010

Digital fetal aneuploidy diagnosis by next-generation sequencing.

Clin Chem 2010 Mar 29;56(3):336-8. Epub 2009 Dec 29.

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http://dx.doi.org/10.1373/clinchem.2009.141267DOI Listing
March 2010

Multiplex amplicon genotyping by high-resolution melting.

J Biomol Tech 2009 Jul;20(3):160-4

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700465PMC
July 2009

Next-generation sequencing: from basic research to diagnostics.

Clin Chem 2009 Apr 26;55(4):641-58. Epub 2009 Feb 26.

ARUP Institute for Experimental and Clinical Pathology, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1373/clinchem.2008.112789DOI Listing
April 2009

High resolution melting applications for clinical laboratory medicine.

Exp Mol Pathol 2008 Aug 13;85(1):50-8. Epub 2008 Apr 13.

ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1016/j.yexmp.2008.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2606052PMC
August 2008

Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting.

Clin Chem 2008 Jan 2;54(1):108-15. Epub 2007 Nov 2.

ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1373/clinchem.2007.097121DOI Listing
January 2008

Unlabeled probes for the detection and typing of herpes simplex virus.

Clin Chem 2007 Oct 24;53(10):1847-54. Epub 2007 Aug 24.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1373/clinchem.2007.090761DOI Listing
October 2007

Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotyping.

Clin Chem 2007 Aug 7;53(8):1544-8. Epub 2007 Jun 7.

Institute for Clinical and Experimental Pathology, ARUP, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1373/clinchem.2007.088120DOI Listing
August 2007

Evaluation of quantification methods for real-time PCR minor groove binding hybridization probe assays.

Anal Biochem 2007 Feb 5;361(1):55-64. Epub 2006 Dec 5.

ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1016/j.ab.2006.11.023DOI Listing
February 2007

Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes.

Clin Chem 2006 Mar 19;52(3):494-503. Epub 2006 Jan 19.

Institute for Clinical and Experimental Pathology, ARUP, Salt Lake City, UT, USA.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2005.063438
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http://dx.doi.org/10.1373/clinchem.2005.063438DOI Listing
March 2006

A single-tube nucleic acid extraction, amplification, and detection method using aluminum oxide.

J Mol Diagn 2006 Feb;8(1):16-21

ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867575PMC
http://dx.doi.org/10.2353/jmoldx.2006.040398DOI Listing
February 2006

Increased sensitivity of bacterial detection in cerebrospinal fluid by fluorescent staining on low-fluorescence membrane filters.

J Med Microbiol 2005 Sep;54(Pt 9):843-50

ARUP Institute for Clinical and Experimental Pathology and Department of Pathology, University of Utah, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1099/jmm.0.46092-0DOI Listing
September 2005

Extraction and amplification of genomic DNA from human blood on nanoporous aluminum oxide membranes.

Clin Chem 2004 Oct 10;50(10):1817-9. Epub 2004 Jun 10.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1373/clinchem.2004.035162DOI Listing
October 2004

Localization and imaging of nucleic acids on nanoporous aluminum oxide membranes.

Clin Chem 2004 Oct 12;50(10):1819-21. Epub 2004 Aug 12.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1373/clinchem.2004.035170DOI Listing
October 2004