Kelli Sumner
ARUP Laboratories
17 Papers
67 Citations
Kelli Sumner is an academic researcher from ARUP Laboratories. The author has contributed to research in topics: Pulmonary capillary hemangiomatosis & Pulmonary hypertension. The author has an hindex of 8, co-authored 17 publications.
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Papers
EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
D. Hunter Best,D. Hunter Best,Kelli Sumner,Eric D. Austin,Eric D. Austin,Wendy K. Chung,Lynette M. Brown,Lynette M. Brown,Alain C. Borczuk,Erika B. Rosenzweig,Pinar Bayrak-Toydemir,Rong Mao,Barbara C. Cahill,Henry D. Tazelaar,Kevin O. Leslie,Anna R. Hemnes,Ivan M. Robbins,C. Gregory Elliott,C. Gregory Elliott +18 more
TL;DR: In this article, the authors used exome sequencing to identify a candidate gene for Pulmonary capillary hemangiomatosis (PCH) in a family with two affected brothers.
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EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
D. Hunter Best,D. Hunter Best,Kelli Sumner,Benjamin P. Smith,Benjamin P. Smith,Kristy Damjanovich-Colmenares,Ikue Nakayama,Lynette M. Brown,Lynette M. Brown,Youna Ha,Eleri Paul,Ashley Morris,Mohamed Jama,Mark W. Dodson,Mark W. Dodson,Pinar Bayrak-Toydemir,Pinar Bayrak-Toydemir,C. Gregory Elliott,C. Gregory Elliott +18 more
TL;DR: Identification of pathogenic biallelic EIF2AK4 mutations can aid clinicians in differentiating HPAH from heritable PVOD or PCH.
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An investigation of PIK3CA mutations in isolated macrodactyly
TL;DR: The results indicate that a high proportion of isolated macrodactyly patients carry a pathogenic PIK3CA mutation, and adipose had the highest mutation detection rate, followed by nerve and skin.
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Molecular testing for adult type Alport syndrome
Genevieve Pont-Kingdon,Kelli Sumner,Friederike Gedge,Chris Miller,Joyce C. Denison,Martin C. Gregory,Elaine Lyon,Elaine Lyon +7 more
TL;DR: A molecular assay using a set of hybridization probes that identify the three most common adult type XLAS mutations; C1564S, L1649R, and R1677Q that may be useful for presymptomatic and carrier testing in families with one of the mutations and in the diagnosis of unexplained hematuria or chronic kidney disease.
Molecular Pathology Methods
D. Hunter Best,D. Hunter Best,Shale Dames,Whitney Wooderchak-Donahue,Tracey Lewis,Kelli Sumner,Cecily P. Vaughn,Rong Mao,Rong Mao,Daniel H. Farkas +9 more
- 01 Jan 2016
TL;DR: Today, molecular diagnostics continues to grow rapidly as in vitro diagnostic companies develop new kits for the marketplace and as the insights into disease gained by the progress of the Human Genome Project develop into laboratory tests.
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