Stephanie Barton
Overview
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
1.
Palmer E, Stepien K, Campbell C, Barton S, Iosifidis C, Ghosh A, et al.
Orphanet J Rare Dis
. 2023 Sep;
18(1):265.
PMID: 37667371
Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic...
2.
Ellingford J, Ahn J, Bagnall R, Baralle D, Barton S, Campbell C, et al.
Genome Med
. 2022 Jul;
14(1):73.
PMID: 35850704
Background: The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease...
3.
Sallah S, Sergouniotis P, Barton S, Ramsden S, Taylor R, Safadi A, et al.
Eur J Hum Genet
. 2020 Apr;
28(9):1274-1282.
PMID: 32313206
Advances in DNA sequencing technologies have revolutionised rare disease diagnostics and have led to a dramatic increase in the volume of available genomic data. A key challenge that needs to...
4.
Jiman O, Taylor R, Lenassi E, Smith J, Douzgou S, Ellingford J, et al.
Eur J Hum Genet
. 2019 Dec;
28(5):576-586.
PMID: 31836858
Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with...
5.
Avela K, Salonen-Kajander R, Laitinen A, Ramsden S, Barton S, Rudanko S
Acta Ophthalmol
. 2019 May;
97(8):805-814.
PMID: 31087526
Purpose: To study the genetic aetiology and phenotypes of retinal degeneration (RD) in Finnish children born during 1993-2009. Methods: Children with retinal degeneration (N = 68) were investigated during 2012-2014...
6.
Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard S, et al.
Am J Med Genet A
. 2019 Mar;
179(6):1058-1062.
PMID: 30892814
CREBBP loss-of function variants cause Rubinstein-Taybi syndrome (RTS). There have been two separate reports of patients with missense variants in exon 30 or 31 of CREBBP in individuals lacking the...
7.
Ellingford J, Horn B, Campbell C, Arno G, Barton S, Tate C, et al.
J Med Genet
. 2017 Oct;
55(2):114-121.
PMID: 29074561
Background: Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have...
8.
Avela K, Sankila E, Seitsonen S, Kuuluvainen L, Barton S, Gillies S, et al.
Acta Ophthalmol
. 2017 Oct;
96(2):183-191.
PMID: 29068140
Purpose: To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. Methods: A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort...
9.
Lee S, Bailey J, Smith J, Barton S, Brown D, Joyce T
Phys Ther Sport
. 2017 Jul;
29:101-107.
PMID: 28690018
Objectives: To investigate the changes in lumbar kinematic and paraspinal muscle activation before, during, and after a 4-week minimalist running training. Design: Prospective cohort study. Setting: University research laboratory. Participants:...
10.
Vincent A, Abeysekera N, van Bysterveldt K, Oliver V, Ellingford J, Barton S, et al.
Clin Exp Ophthalmol
. 2017 May;
45(9):901-910.
PMID: 28488341
Importance: This study identifies unique genetic variation observed in a cohort of Māori and Polynesian patients with rod-cone retinal dystrophies using a targeted next-generation sequencing retinal disease gene panel. Background:...