Publications by authors named "Elaine Lyon"

94Publications

Recommended measures for the efficient care of patients with genetic disorders during the COVID-19 pandemic in low and middle income countries.

Am J Med Genet A 2020 Oct 16. Epub 2020 Oct 16.

Medical Laboratory Sciences Program, Faculty of Health Sciences, American University of Beirut, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.61879DOI Listing
October 2020

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.

Mol Genet Metab 2019 Sep - Oct;128(1-2):122-128. Epub 2019 Jul 18.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.07.008DOI Listing
April 2020

Postmortem CYP2D6 Genotyping and Copy Number Determinations Using DNA Extracted from Archived FTA Bloodstains.

J Anal Toxicol 2019 Jun;43(5):411-414

ARUP Institute for Clinical and Experimental Pathology, Department of Research and Development, 500 Chipeta Way, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1093/jat/bkz008DOI Listing
June 2019

Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine.

Expert Rev Mol Diagn 2018 05 23;18(5):411-421. Epub 2018 Apr 23.

a ARUP Laboratories and Department of Pathology , University of Utah School of Medicine , Salt Lake City , UT , USA.

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http://dx.doi.org/10.1080/14737159.2018.1461561DOI Listing
May 2018

Response to Biesecker and Harrison.

Genet Med 2018 12;20(12):1689-1690

Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2018.43DOI Listing
December 2018

A Clinicopathologic Evaluation of Incidental Fundic Gland Polyps With Dysplasia: Implications for Clinical Management.

Am J Gastroenterol 2017 Jul 2;112(7):1094-1102. Epub 2017 May 2.

Department of Pathology and ARUP Laboratories, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1038/ajg.2017.125DOI Listing
July 2017

The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology.

J Mol Diagn 2016 09 16;18(5):605-619. Epub 2016 Aug 16.

Association for Molecular Pathology's Framework for the Evidence Needed to Demonstrate Clinical Utility Task Force, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, Utah. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.05.007DOI Listing
September 2016

Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

PLoS One 2015 24;10(7):e0133890. Epub 2015 Jul 24.

Caritas Baby Hospital, Bethlehem, Palestine; Bethlehem University, Bethlehem, Palestine; Palestinian Forum for Medical Research (PFMR), Ramallah, Palestine.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133890PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514804PMC
May 2016

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.

J Mol Diagn 2015 Sep 10;17(5):576-82. Epub 2015 Jul 10.

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

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http://dx.doi.org/10.1016/j.jmoldx.2015.05.005DOI Listing
September 2015

Elderly female with a personal and family history of a bleeding disorder.

Clin Chem 2015 Jul;61(7):909-12

Department of Pathology and ARUP Laboratories Institute for Clinical and Experimental Pathology, Salt Lake City, UT;

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http://dx.doi.org/10.1373/clinchem.2014.227165DOI Listing
July 2015

The Evolving Role of the Laboratory Professional in the Age of Genome Sequencing: A Vision of the Association for Molecular Pathology.

J Mol Diagn 2015 Jul 2;17(4):335-8. Epub 2015 Jun 2.

Association for Molecular Pathology (AMP) Executive Committee, Bethesda, Maryland; AMP Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1016/j.jmoldx.2015.03.001DOI Listing
July 2015

Next generation sequencing in clinical diagnostics: experiences of early adopters.

Clin Chem 2015 Jan 24;61(1):41-9. Epub 2014 Nov 24.

Department of Pathology and Laboratory Medicine. Women & Infants Hospital, Alpert Medical School at Brown University, Providence, RI.

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http://dx.doi.org/10.1373/clinchem.2014.222687DOI Listing
January 2015

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.

Genet Med 2015 Mar 31;17(3):219-25. Epub 2014 Jul 31.

Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical School, Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1038/gim.2014.93DOI Listing
March 2015

Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

J Mol Diagn 2014 Sep 9;16(5):477-480. Epub 2014 Jul 9.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Department of Pathology, University of Utah, Salt Lake City, Utah. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.04.005DOI Listing
September 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.

Genet Med 2014 Sep 27;16(9):695-702. Epub 2014 Feb 27.

Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert School of Medicine at Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1038/gim.2014.14DOI Listing
September 2014

Revisiting oversight and regulation of molecular-based laboratory-developed tests: a position statement of the Association for Molecular Pathology.

J Mol Diagn 2014 Jan;16(1):3-6

The LDT Working Group of the Association for Molecular Pathology (AMP) Professional Relations Committee, Bethesda, Maryland; Department of Molecular Pathology, Cleveland Clinic Foundation, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.jmoldx.2013.10.003DOI Listing
January 2014

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

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https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
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http://www.nature.com/doifinder/10.1038/gim.2013.92
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http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Genet Med 2014 Jan 23;16(1):25-32. Epub 2013 May 23.

Detroit Medical Center and Departments of Pathology and Pediatrics and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA.

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http://dx.doi.org/10.1038/gim.2013.65DOI Listing
January 2014

Triplet repeat primed PCR simplifies testing for Huntington disease.

J Mol Diagn 2013 Mar 13;15(2):255-62. Epub 2013 Feb 13.

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

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http://dx.doi.org/10.1016/j.jmoldx.2012.09.005DOI 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

Diagnostic utility of microsatellite genotyping for molar pregnancy testing.

Arch Pathol Lab Med 2013 Jan;137(1):55-63

Department of Pathology, University of Utah School of Medicine, Salt Lake City 84108, USA.

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http://dx.doi.org/10.5858/arpa.2012-0047-OADOI Listing
January 2013

Capillary electrophoresis for the detection of Fragile X expanded alleles.

Methods Mol Biol 2013 ;919:275-85

Pathology Department, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/978-1-62703-029-8_24DOI Listing
January 2013

Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.

Genet Med 2012 Dec 6;14(12):990-1000. Epub 2012 Sep 6.

Department of Pathology, University of Utah School of Medicine, Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1038/gim.2012.108DOI Listing
December 2012

Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity.

Genet Test Mol Biomarkers 2012 Sep 22;16(9):1111-4. Epub 2012 Aug 22.

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

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http://www.liebertpub.com/doi/10.1089/gtmb.2012.0115
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http://dx.doi.org/10.1089/gtmb.2012.0115DOI Listing
September 2012

Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.

Am J Med Genet A 2012 Sep 27;158A(9):2100-5. Epub 2012 Jul 27.

Division of Medical Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, New Jersey 08901, USA.

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http://dx.doi.org/10.1002/ajmg.a.35448DOI Listing
September 2012

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Genome Med 2012 May 28;4(5):48. Epub 2012 May 28.

University of Utah School of Medicine, Biomedical Informatics, 26 South 2000 East, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1186/gm347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506914PMC
May 2012

Aneuploidy detection in paraffin embedded tissue from products of conception by mini-STR genotyping.

Fetal Pediatr Pathol 2013 Apr 18;32(2):133-50. Epub 2012 May 18.

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.3109/15513815.2012.681428DOI Listing
April 2013

α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.

Chest 2012 Jan;141(1):239-241

Department of Pathology, University of Utah Health School of Medicine, Salt Lake City, UT; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT. Electronic address:

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http://dx.doi.org/10.1378/chest.11-0104DOI Listing
January 2012

Design and analytical validation of clinical DNA sequencing assays.

Arch Pathol Lab Med 2012 Jan;136(1):41-6

ARUP Laboratories, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.5858/arpa.2010-0623-OADOI Listing
January 2012

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability.

Am J Med Genet A 2012 Jan 21;158A(1):159-65. Epub 2011 Nov 21.

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

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http://dx.doi.org/10.1002/ajmg.a.34349DOI Listing
January 2012

Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.

J Am Med Inform Assoc 2012 Mar-Apr;19(2):207-11. Epub 2011 Oct 28.

Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1136/amiajnl-2011-000309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277614PMC
May 2012

Simultaneous genotyping of rs12979860 and rs8099917 variants near the IL28B locus associated with HCV clearance and treatment response.

J Mol Diagn 2011 Jul 14;13(4):446-51. Epub 2011 May 14.

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

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http://linkinghub.elsevier.com/retrieve/pii/S152515781100115
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http://dx.doi.org/10.1016/j.jmoldx.2011.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123790PMC
July 2011

Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.

Genet Test Mol Biomarkers 2011 Nov 20;15(11):793-9. Epub 2011 Jun 20.

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

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0051
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http://dx.doi.org/10.1089/gtmb.2011.0051DOI Listing
November 2011

Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis.

Clin Chim Acta 2011 Jul 8;412(15-16):1454-6. Epub 2011 Apr 8.

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.cca.2011.03.032DOI Listing
July 2011

Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories.

Curr Protoc Hum Genet 2011 Apr;Chapter 9:Unit9.2

Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/0471142905.hg0902s69DOI Listing
April 2011

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

PLoS One 2011 Mar 30;6(3):e18380. Epub 2011 Mar 30.

Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0018380PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068179PMC
March 2011

Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden.

Genet Test Mol Biomarkers 2011 Apr 23;15(4):207-13. Epub 2011 Jan 23.

Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1089/gtmb.2010.0137DOI Listing
April 2011

The Alport syndrome COL4A5 variant database.

Hum Mutat 2010 Aug;31(8):E1652-7

ARUP Laboratories, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1002/humu.21312DOI Listing
August 2010

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Hum Mutat 2010 May;31(5):588-93

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

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http://dx.doi.org/10.1002/humu.21230DOI 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

Molecular testing for adult type Alport syndrome.

BMC Nephrol 2009 Nov 17;10:38. Epub 2009 Nov 17.

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

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http://dx.doi.org/10.1186/1471-2369-10-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780398PMC
November 2009

LightCycler technology in molecular diagnostics.

J Mol Diagn 2009 Mar 5;11(2):93-101. Epub 2009 Feb 5.

Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.2353/jmoldx.2009.080094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665858PMC
March 2009

Pharmacogenetic testing for warfarin sensitivity.

Clin Lab Med 2008 Dec;28(4):525-37

Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S027227120800037
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http://dx.doi.org/10.1016/j.cll.2008.09.001DOI Listing
December 2008

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.

J Mol Diagn 2008 Sep 31;10(5):459-68. Epub 2008 Jul 31.

Centers for Disease Control and Prevention, 1600 Clifton Rd. NE, MS-G23, Atlanta, Georgia 30333, USA.

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http://dx.doi.org/10.2353/jmoldx.2008.080050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518741PMC
September 2008

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Genet Med 2008 Apr;10(4):294-300

Department of Molecular and Medical Genetics, Oregon Health Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31816b5caeDOI Listing
April 2008

Design and application of noncontinuously binding probes used for haplotyping and genotyping.

Clin Chem 2008 Jun 10;54(6):990-9. Epub 2008 Apr 10.

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

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http://dx.doi.org/10.1373/clinchem.2007.100487DOI Listing
June 2008

Molecular diagnosis utility of multiplex ligation-dependent probe amplification.

Expert Opin Med Diagn 2008 Apr;2(4):373-85

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108-1221, USA.

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http://dx.doi.org/10.1517/17530059.2.4.373DOI Listing
April 2008

Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

J Mol Diagn 2007 Nov 20;9(5):618-23. Epub 2007 Sep 20.

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

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http://dx.doi.org/10.2353/jmoldx.2007.070027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2049049PMC
November 2007

Multiplex genotyping by melting analysis of loci-spanning probes: beta-globin as an example.

Biotechniques 2007 Feb;42(2):193-7

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

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http://dx.doi.org/10.2144/000112330DOI Listing
February 2007

Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays.

Expert Rev Mol Diagn 2006 Nov;6(6):811-20

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

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http://www.tandfonline.com/doi/full/10.1586/14737159.6.6.811
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http://dx.doi.org/10.1586/14737159.6.6.811DOI Listing
November 2006

Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.

J Mol Diagn 2006 Feb;8(1):137-40

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, 165 Ashley Ave., Suite 309, Charleston, SC 29425, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578106030
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867569PMC
http://dx.doi.org/10.2353/jmoldx.2006.050065DOI Listing
February 2006

Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes.

J Mol Diagn 2006 Feb;8(1):97-104

ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108-1221, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867566PMC
http://dx.doi.org/10.2353/jmoldx.2006.050053DOI Listing
February 2006

Unlabeled oligonucleotide probes modified with locked nucleic acids for improved mismatch discrimination in genotyping by melting analysis.

Biotechniques 2005 Nov;39(5):644, 646, 648 passim

ARUP Laboratories, Salt Lake City, UT 84108-1221, USA.

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http://dx.doi.org/10.2144/000112050DOI Listing
November 2005

A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model.

Am J Clin Pathol 2005 Sep;124(3):330-8

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108-1221, USA.

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http://dx.doi.org/10.1309/BF3M-LJN8-J527-MWQYDOI Listing
September 2005

Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes.

Clin Chem 2005 Sep 14;51(9):1619-23. Epub 2005 Jul 14.

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

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2005.052159
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http://dx.doi.org/10.1373/clinchem.2005.052159DOI Listing
September 2005

Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example.

Nucleic Acids Res 2005 Jun 3;33(10):e89. Epub 2005 Jun 3.

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

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gni090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142492PMC
June 2005

Distinguishing different DNA heterozygotes by high-resolution melting.

Clin Chem 2005 Jul 19;51(7):1295-8. Epub 2005 May 19.

Department of Pathology, University of Utah School of Medicine, Salt Lake City 84132, USA.

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http://dx.doi.org/10.1373/clinchem.2005.051516DOI Listing
July 2005

Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.

J Mol Diagn 2005 Feb;7(1):111-20

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

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http://linkinghub.elsevier.com/retrieve/pii/S152515781060016
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867511PMC
http://dx.doi.org/10.1016/S1525-1578(10)60016-5DOI Listing
February 2005

Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons.

Clin Chem 2004 Jul;50(7):1156-64

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

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http://dx.doi.org/10.1373/clinchem.2004.032136DOI Listing
July 2004

Flow cytometric assay for genotyping cytochrome p450 2C9 and 2C19: comparison with a microelectronic DNA array.

Am J Pharmacogenomics 2004 ;4(3):199-207

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

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http://dx.doi.org/10.2165/00129785-200404030-00007DOI Listing
September 2004

Current challenges in cystic fibrosis screening.

Arch Pathol Lab Med 2003 Sep;127(9):1133-9

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

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http://dx.doi.org/10.1043/1543-2165(2003)127<1133:CCICFS>2.0.CO;2DOI Listing
September 2003

Comparison of two quantitative polymerase chain reaction methods for detecting HER2/neu amplification.

J Mol Diagn 2003 Aug;5(3):184-90

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1907331PMC
http://dx.doi.org/10.1016/S1525-1578(10)60471-0DOI Listing
August 2003

Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci.

Clin Chem 2003 Jul;49(7):1087-94

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

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http://dx.doi.org/10.1373/49.7.1087DOI Listing
July 2003

Evaluation of electronic microarrays for genotyping factor V, factor II, and MTHFR.

Clin Chem 2003 May;49(5):732-9

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

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May 2003

Automated DNA extraction for real-time PCR.

Clin Chem 2002 Sep;48(9):1629-30

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September 2002