Jonathan Stephens
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Explore the profile of Jonathan Stephens including associated specialties, affiliations and a list of published articles.
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47
Citations
6305
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Recent Articles
11.
Lane W, Gleadall N, Aeschlimann J, Vege S, Sanchis-Juan A, Stephens J, et al.
Transfusion
. 2020 May;
60(6):1294-1307.
PMID: 32473076
Background: The MNS blood group system is defined by three homologous genes: GYPA, GYPB, and GYPE. GYPB encodes for glycophorin B (GPB) carrying S/s and the "universal" antigen U. RBCs...
12.
Chan M, Hayman M, Sivapalaratnam S, Crescente M, Allan H, Edin M, et al.
Haematologica
. 2020 Apr;
106(5):1423-1432.
PMID: 32299908
We have identified a rare missense variant on chromosome 9, position 125145990 (GRCh37), in exon 8 in PTGS1 (the gene encoding cyclo-oxygenase 1, COX-1, the target of anti-thrombotic aspirin therapy)....
13.
Wei W, Pagnamenta A, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, et al.
Nat Commun
. 2020 Apr;
11(1):1740.
PMID: 32269217
Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a 'heteroplasmic...
14.
Spencer S, Bal S, Egner W, Lango Allen H, Raza S, Ma C, et al.
J Exp Med
. 2019 Jun;
216(9):1986-1998.
PMID: 31235509
IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by We describe two patients...
15.
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, et al.
Blood
. 2019 May;
134(23):2082-2091.
PMID: 31064749
A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with...
16.
Sanchis-Juan A, Stephens J, French C, Gleadall N, Megy K, Penkett C, et al.
Genome Med
. 2018 Dec;
10(1):95.
PMID: 30526634
Background: Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read...
17.
Whitworth J, Smith P, Martin J, West H, Luchetti A, Rodger F, et al.
Am J Hum Genet
. 2018 Jun;
103(1):3-18.
PMID: 29909963
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in...
18.
Tuijnenburg P, Lango Allen H, Burns S, Greene D, Jansen M, Staples E, et al.
J Allergy Clin Immunol
. 2018 Feb;
142(4):1285-1296.
PMID: 29477724
Background: The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. Objective: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource-Rare Diseases cohort. Methods:...
19.
Carss K, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, et al.
Am J Hum Genet
. 2017 Jan;
100(1):75-90.
PMID: 28041643
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited...
20.
McKerrell T, Park N, Moreno T, Grove C, Ponstingl H, Stephens J, et al.
Cell Rep
. 2015 Mar;
10(8):1239-45.
PMID: 25732814
Clonal hemopoiesis driven by leukemia-associated gene mutations can occur without evidence of a blood disorder. To investigate this phenomenon, we interrogated 15 mutation hot spots in blood DNA from 4,219...