Kelli Sumner

Kelli Sumner

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Kelli Sumner

Kelli Sumner

Publications by authors named "Kelli Sumner"

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An investigation of PIK3CA mutations in isolated macrodactyly.

J Hand Surg Eur Vol 2018 Sep 16;43(7):756-760. Epub 2018 Apr 16.

3 ARUP Laboratories, Salt Lake City, USA.

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http://dx.doi.org/10.1177/1753193418770366DOI Listing
September 2018

EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.

Chest 2017 04 22;151(4):821-828. Epub 2016 Nov 22.

Department of Medicine, Intermountain Medical Center, Murray, UT; Department of Internal Medicine, University of Utah, Salt Lake City, UT. Electronic address:

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http://dx.doi.org/10.1016/j.chest.2016.11.014DOI Listing
April 2017

Pulmonary veno-occlusive disease: Two children with gradual disease progression.

Respir Med Case Rep 2017 29;20:82-86. Epub 2016 Dec 29.

University of Utah Department of Pathology, 15 North Medical Drive, Suite 1100, Salt Lake City, UT 84132, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S22130071163018
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http://dx.doi.org/10.1016/j.rmcr.2016.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219617PMC
December 2016

Infantile pulmonary capillary haemangiomatosis: a lethal form of pulmonary hypertension.

Cardiol Young 2016 Apr 15;26(4):663-8. Epub 2015 Jul 15.

1Department of Paediatric Cardiology,Crumlin,Dublin 12,Ireland.

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http://dx.doi.org/10.1017/S1047951115001006DOI Listing
April 2016

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

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Chest 2014 Feb;145(2):231-236

Department of Medicine, School of Medicine, and Pulmonary Division, The University of Utah, Salt Lake City, UT; Department of Medicine, Intermountain Medical Center, Intermountain Healthcare, Murray, UT. Electronic address:

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http://journal.publications.chestnet.org/data/Journals/CHEST
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http://linkinghub.elsevier.com/retrieve/pii/S001236921534162
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http://dx.doi.org/10.1378/chest.13-2366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921094PMC
February 2014

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

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

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

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

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