Publications by authors named "Kelli Sumner"

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The Factor V Leiden variant and risk of chronic thromboembolic pulmonary hypertension.
Mark W Dodson, Kelli Sumner, Jadyn Carlsen, Meghan M Cirulis, Emily L Wilson

Eur Respir J· October 2020

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An investigation of PIK3CA mutations in isolated macrodactyly.
Jingheng Wu, Wei Tian, Guanglei Tian, Kelli Sumner, Douglas T Hutchinson

J Hand Surg Eur Vol· September 2018

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EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
D Hunter Best, Kelli L Sumner, Benjamin P Smith, Kristy Damjanovich-Colmenares, Ikue Nakayama

Chest· April 2017

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Pulmonary veno-occlusive disease: Two children with gradual disease progression.
Ronald W Day, Parker W Clement, Aimee O Hersh, Susan M Connors, Kelli L Sumner

Respir Med Case Rep· December 2016

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Infantile pulmonary capillary haemangiomatosis: a lethal form of pulmonary hypertension.
Eiméar McGovern, Paul McNally, Maureen O'Sullivan, Ethna Phelan, Kelli Sumner

Cardiol Young· April 2016

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Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.
Kelli Sumner, Jeffrey J Swensen, Melinda Procter, Mohamed Jama, Whitney Wooderchak-Donahue

J Mol Diagn· September 2014

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EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
D Hunter Best, Kelli L Sumner, Eric D Austin, Wendy K Chung, Lynette M Brown

Chest· February 2014

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Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
Kelli Sumner, Lindsey Hubley, Genevieve Pont-Kingdon, Sheri Mitchell, Tyler Wayman

Genet Test Mol Biomarkers· July 2012

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Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.
Whitney Wooderchak-Donahue, Cecily Vaughn, Lan-Szu Chou, Tracey Lewis, Kelli Sumner

Genet Test Mol Biomarkers· November 2011

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The SPRED1 Variants Repository for Legius Syndrome.
Kelli Sumner, David K Crockett, Talia Muram, Kalyan Mallempati, Hunter Best

G3 (Bethesda)· November 2011

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Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden.
Annika M Svensson, Lan-Szu Chou, Cindy Meadows, Christine E Miller, Robert Palais, Kelli Sumner

Genet Test Mol Biomarkers· April 2011

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The Alport syndrome COL4A5 variant database.
David K Crockett, Genevieve Pont-Kingdon, Frederick Gedge, Kelli Sumner, Ryan Seamons

Hum Mutat· August 2010

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Molecular testing for adult type Alport syndrome.
Genevieve Pont-Kingdon, Kelli Sumner, Friederike Gedge, Chris Miller, Joyce Denison

BMC Nephrol· November 2009

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Design and application of noncontinuously binding probes used for haplotyping and genotyping.
Genevieve Pont-Kingdon, Rebecca L Margraf, Kelli Sumner, Alison Millson, Elaine Lyon

Clin Chem· June 2008

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Multiplex genotyping by melting analysis of loci-spanning probes: beta-globin as an example.
Genevieve Pont-Kingdon, Lan-Szu Chou, Kristy Damjanovich, Kelli Sumner, Mark Herrmann

Biotechniques· February 2007

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