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Bart Wagner

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Articles 28
Citations 424
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Recent Articles
1.
Wilkinson N, Cervi E, Wagner B, Morris-Rosendahl D, Baker D, Flora H, et al.
Eur J Hum Genet . 2024 Dec; 33(3):368-376. PMID: 39730916
Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to...
2.
van Dijk F, Angwin C, Ghali N, Zschocke J, Wagner B
Med Genet . 2024 Dec; 36(4):247-254. PMID: 39629472
With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases...
3.
Khasati A, Thaung C, Mudhar H, Wagner B, Goggin P, Stoker I, et al.
Ocul Oncol Pathol . 2023 Dec; 9(3-4):101-106. PMID: 38046271
Introduction: Ruthenium-106 (Ru-106) brachytherapy is one of the commonest eye-sparing treatments for choroidal melanoma. These patients require long-term surveillance of the treated tumour remnant to ensure there is no local...
4.
Jackson R, Hatton C, Spegarova J, Georgiou M, Collin J, Stephenson E, et al.
Stem Cell Reports . 2022 Jun; 17(7):1699-1713. PMID: 35750043
Conjunctival epithelial cells, which express viral-entry receptors angiotensin-converting enzyme 2 (ACE2) and transmembrane protease serine type 2 (TMPRSS2), constitute the largest exposed epithelium of the ocular surface tissue and may...
5.
Stenton S, McPartland J, Shukla R, Turner K, Marton T, Hargitai B, et al.
EClinicalMedicine . 2022 Apr; 47:101389. PMID: 35465646
Background: Pregnant women with SARS-CoV-2 infection experience higher rates of stillbirth and preterm birth. A unique pattern of chronic histiocytic intervillositis (CHI) and/or massive perivillous fibrin deposition (MPFD) has emerged,...
6.
Georgiadou N, Singh S, Wagner B, Goggin P, Katsarma E, Singh M
Am J Dermatopathol . 2021 Feb; 43(11):822-826. PMID: 33606379
A case of localized argyria in a 36-year-old female jeweler is described who presented with 2 discrete and asymptomatic bluish-black pigmented macules on the pulp of her left middle finger....
7.
Bisseling T, van Laarhoven A, Huijbers A, Brink M, Roverts R, Wagner B, et al.
Am J Gastroenterol . 2020 Oct; 116(2):421-424. PMID: 33086224
No abstract available.
8.
Bull L, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, et al.
J Pediatr Gastroenterol Nutr . 2020 Oct; 72(5):667-673. PMID: 33075013
Objectives: Although a number of genetic forms of cholestasis have been identified, the genetic etiology of disease remains unidentified in a subset of cholestasis patients. Methods: Whole exome sequencing (WES)...
9.
Schirwani S, Metcalfe K, Wagner B, Berry I, Sobey G, Jewell R
Eur J Med Genet . 2019 Oct; 63(4):103798. PMID: 31655143
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive condition characterized by distinct craniofacial features, multisystem congenital malformations and progressive fragility of connective tissues. It is caused by pathogenic variants in...
10.
Ng J, Ting D, Vaideanu-Collins D, Mudhar H, Wagner B, Goggin P, et al.
Eye (Lond) . 2019 Jun; 33(10):1672-1674. PMID: 31168058
No abstract available.