Sarah Elsea
Overview
Explore the profile of Sarah Elsea including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
151
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0
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Recent Articles
1.
Yazdani A, Mendez-Giraldez R, Yazdani A, Schaid D, Kong S, Hadi M, et al.
Res Sq
. 2023 Aug;
PMID: 37645766
In a prospective study with records of heart failure (HF) incidence, we present metabolite profiling data from individuals without HF at baseline. We uncovered the interconnectivity of metabolites using data-driven...
2.
Keehan L, Haviland I, Gofin Y, Swanson L, El Achkar C, Schreiber J, et al.
Am J Med Genet A
. 2022 Aug;
188(12):3516-3524.
PMID: 35934918
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory epilepsy, cognitive and motor impairments, and cerebral visual impairment....
3.
Ford L, Mitchell M, Wulff J, Evans A, Kennedy A, Elsea S, et al.
Adv Clin Chem
. 2022 Mar;
107:79-138.
PMID: 35337606
Metabolism is a highly regulated process that provides nutrients to cells and essential building blocks for the synthesis of protein, DNA and other macromolecules. In healthy biological systems, metabolism maintains...
4.
5.
Ford L, Kennedy A, Goodman K, Pappan K, Evans A, Miller L, et al.
J Appl Lab Med
. 2020 May;
5(2):342-356.
PMID: 32445384
Background: The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory. Here, we describe a clinical metabolomics method...
6.
Jiang Y, Mistretta B, Elsea S, Sun Q
Clin Chim Acta
. 2016 Nov;
464:93-97.
PMID: 27845054
The sulfur-containing amino acid homocysteine is a cardiac risk factor and a biomarker for several inborn errors of metabolism in methionine synthesis. A simple LC-MS/MS method was developed and validated...
7.
Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, et al.
PLoS Genet
. 2012 Jun;
8(5):e1002713.
PMID: 22654670
The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome...
8.
Gropman A, Elsea S, Duncan Jr W, Smith A
Curr Opin Neurol
. 2007 Mar;
20(2):125-34.
PMID: 17351481
Purpose Of Review: Recent clinical, neuroimaging, sleep, and molecular cytogenetic studies have provided new insights into the mechanisms leading to the Smith-Magenis phenotype and are summarized in this review. Recent...