Stephanie Barton
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Explore the profile of Stephanie Barton including associated specialties, affiliations and a list of published articles.
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21
Citations
1007
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Recent Articles
11.
Moss J, Penhallow J, Ansari M, Barton S, Bourn D, Fitzpatrick D, et al.
Am J Med Genet A
. 2017 Apr;
173(6):1566-1574.
PMID: 28425213
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes...
12.
Ellingford J, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor R, et al.
Eur J Hum Genet
. 2017 Apr;
25(6):719-724.
PMID: 28378820
Although a common cause of disease, copy number variants (CNVs) have not routinely been identified from next-generation sequencing (NGS) data in a clinical context. This study aimed to examine the...
13.
Ellingford J, Barton S, Bhaskar S, OSullivan J, Williams S, Lamb J, et al.
J Med Genet
. 2016 May;
53(11):761-767.
PMID: 27208204
Background: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing (next-generation sequencing, NGS) services have been developed worldwide. Methods: We present...
14.
Ellingford J, Barton S, Bhaskar S, Williams S, Sergouniotis P, OSullivan J, et al.
Ophthalmology
. 2016 Feb;
123(5):1143-50.
PMID: 26872967
Purpose: To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD). Design: Case series. Participants: A total of...
15.
Dunagan J, Adams J, Cheng D, Barton S, Bigej-Cerqua J, Mims L, et al.
Proc (Bayl Univ Med Cent)
. 2013 Jul;
26(3):247-51.
PMID: 23814381
Cardiac rehabilitation exercise prescriptions should be based on exercise stress tests; however, limitations in performing stress tests in this setting typically force reliance on subjective measures like the Duke Activity...
16.
Anderson J, Horne B, Stevens S, Woller S, Samuelson K, Mansfield J, et al.
Circulation
. 2012 Mar;
125(16):1997-2005.
PMID: 22431865
Background: Warfarin is characterized by marked variations in individual dose requirements and a narrow therapeutic window. Pharmacogenetics (PG) could improve dosing efficiency and safety, but clinical trials evidence is meager....
17.
Anderson J, Horne B, Stevens S, Grove A, Barton S, Nicholas Z, et al.
Circulation
. 2007 Nov;
116(22):2563-70.
PMID: 17989110
Background: Pharmacogenetic-guided dosing of warfarin is a promising application of "personalized medicine" but has not been adequately tested in randomized trials. Methods And Results: Consenting patients (n=206) being initiated on...
18.
Tompson S, Ruiz-Perez V, Blair H, Barton S, Navarro V, Robson J, et al.
Hum Genet
. 2006 Oct;
120(5):663-70.
PMID: 17024374
Ellis-van Creveld syndrome (EvC) is caused by mutations in EVC and EVC2, genes in a divergent orientation separated by only 2.6 kb. We systematically sought mutations in both genes in...
19.
Thomas A, Cullup T, Norgett E, Hill T, Barton S, Dale B, et al.
J Invest Dermatol
. 2006 Aug;
126(11):2408-13.
PMID: 16902423
Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and are more susceptible to infection. Abnormalities in the localization of...
20.
Calabrese C, Almassy R, Barton S, Batey M, Calvert A, Canan-Koch S, et al.
J Natl Cancer Inst
. 2004 Jan;
96(1):56-67.
PMID: 14709739
Background: Poly(ADP-ribose) polymerase-1 (PARP-1) facilitates the repair of DNA strand breaks. Inhibiting PARP-1 increases the cytotoxicity of DNA-damaging chemotherapy and radiation therapy in vitro. Because classical PARP-1 inhibitors have limited...