Jonathan Stephens
Overview
Explore the profile of Jonathan Stephens including associated specialties, affiliations and a list of published articles.
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Articles
47
Citations
6305
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0
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Recent Articles
1.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, et al.
Am J Hum Genet
. 2023 Aug;
110(8):1343-1355.
PMID: 37541188
Despite significant progress in unraveling the genetic causes of neurodevelopmental disorders (NDDs), a substantial proportion of individuals with NDDs remain without a genetic diagnosis after microarray and/or exome sequencing. Here,...
2.
Rae W, Sowerby J, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, et al.
Sci Immunol
. 2022 Aug;
7(74):eabn3800.
PMID: 35960817
Tumor necrosis factor receptor-associated factor 3 (TRAF3) is a central regulator of immunity. TRAF3 is often somatically mutated in B cell malignancies, but its role in human immunity is not...
3.
de la Morena-Barrio B, Stephens J, de la Morena-Barrio M, Stefanucci L, Padilla J, Minano A, et al.
Thromb Haemost
. 2022 Jun;
122(8):1369-1378.
PMID: 35764313
The identification of inherited antithrombin deficiency (ATD) is critical to prevent potentially life-threatening thrombotic events. Causal variants in are identified for up to 70% of cases, the majority being single-nucleotide...
4.
Wei W, Pagnamenta A, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, et al.
Nat Commun
. 2020 Jul;
11(1):3741.
PMID: 32699324
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
5.
Ormondroyd E, Harper A, Thomson K, Mackley M, Martin J, Penkett C, et al.
Eur J Hum Genet
. 2020 Jul;
28(11):1486-1496.
PMID: 32686758
Disclosing secondary findings (SF) from genome sequencing (GS) can alert carriers to disease risk. However, evidence around variant-disease association and consequences of disclosure for individuals and healthcare services is limited....
6.
Thaventhiran J, Lango Allen H, Burren O, Rae W, Greene D, Staples E, et al.
Nature
. 2020 Jul;
584(7819):E2.
PMID: 32678341
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
7.
Westbury S, Whyte C, Stephens J, Downes K, Turro E, Claesen K, et al.
J Thromb Haemost
. 2020 Jul;
18(9):2209-2214.
PMID: 32634856
Background: Thrombomodulin-associated coagulopathy (TM-AC) is a rare bleeding disorder in which a single reported p.Cys537* variant in the thrombomodulin gene THBD causes high plasma thrombomodulin (TM) levels. High TM levels...
8.
Turro E, Astle W, Megy K, Graf S, Greene D, Shamardina O, et al.
Nature
. 2020 Jun;
583(7814):96-102.
PMID: 32581362
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered. Here we...
9.
Shovlin C, Simeoni I, Downes K, Frazer Z, Megy K, Bernabeu-Herrero M, et al.
Blood
. 2020 Jun;
136(17):1907-1918.
PMID: 32573726
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping and gaps in knowledge regarding the...
10.
Thaventhiran J, Lango Allen H, Burren O, Rae W, Greene D, Staples E, et al.
Nature
. 2020 Jun;
583(7814):90-95.
PMID: 32499645
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are...