Joannah Score
Overview
Explore the profile of Joannah Score including associated specialties, affiliations and a list of published articles.
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25
Citations
1761
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Recent Articles
1.
Abecasis M, Cross N, Brito M, Ferreira I, Sakamoto K, Hijiya N, et al.
Leukemia
. 2020 Jul;
34(9):2279-2284.
PMID: 32632094
Our concept of cancer latency, the interval from when a cancer starts until it is diagnosed, has changed dramatically. A prior widely-used definition was the interval between an exposure to...
2.
Chase A, Score J, Lin F, Bryant C, Waghorn K, Yapp S, et al.
Leukemia
. 2020 Apr;
34(12):3206-3214.
PMID: 32322039
EZH2, a component of the polycomb repressive complex 2, catalyses the trimethylation of histone H3 lysine 27, a chromatin mark associated with transcriptional repression. EZH2 loss-of-function mutations are seen in...
3.
Chase A, Pellagatti A, Singh S, Score J, Tapper W, Lin F, et al.
Leukemia
. 2018 Dec;
33(5):1184-1194.
PMID: 30573780
Acquired uniparental disomy (aUPD, also known as copy-neutral loss of heterozygosity) is a common feature of cancer cells and characterized by extended tracts of somatically-acquired homozygosity without any concurrent loss...
4.
Schwaab J, Knut M, Haferlach C, Metzgeroth G, Horny H, Chase A, et al.
Ann Hematol
. 2014 Sep;
94(2):233-8.
PMID: 25260694
Rearrangements of chromosome band 9p24 are known to be associated with JAK2 fusion genes, e.g., t(8;9)(p22;p24) with a PCM1-JAK2 and t(9;22)(p24;q11) with a BCR-JAK2 fusion gene, respectively. In association with...
5.
Forsberg L, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, et al.
Nat Genet
. 2014 Apr;
46(6):624-8.
PMID: 24777449
Incidence and mortality for sex-unspecific cancers are higher among men, a fact that is largely unexplained. Furthermore, age-related loss of chromosome Y (LOY) is frequent in normal hematopoietic cells, but...
6.
Tapper W, Foulds N, Cross N, Aranaz P, Score J, Hidalgo-Curtis C, et al.
PLoS One
. 2014 Feb;
9(1):e86940.
PMID: 24497998
Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly-hydrocephalus (MPPH), have recently been defined on the basis of physical and neuroimaging features. Subsequently, exome sequencing of ten MEG cases identified...
7.
Mead A, Chowdhury O, Pecquet C, Dusa A, Woll P, Atkinson D, et al.
Blood
. 2013 Mar;
121(20):4156-65.
PMID: 23535062
The association between somatic JAK2 mutation and myeloproliferative neoplasms (MPNs) is now well established. However, because JAK2 mutations are associated with heterogeneous clinical phenotypes and often occur as secondary genetic...
8.
Winkelmann N, Hidalgo-Curtis C, Waghorn K, Score J, Dickinson H, Jack A, et al.
Leuk Lymphoma
. 2012 Nov;
54(7):1527-31.
PMID: 23186533
Fusion genes involving the catalytic domain of tyrosine kinases (TKs) play an important role in the pathogenesis of hematological malignancies and solid tumors. In BCR-ABL1-negative myeloproliferative neoplasms (MPNs) several different...
9.
Score J, Cross N
Hematol Oncol Clin North Am
. 2012 Sep;
26(5):981-91.
PMID: 23009933
The finding of somatically acquired uniparental disomy, where both copies of a chromosome pair or parts of chromosomes have originated from one parent, has led to the discovery of several...
10.
Chase A, Bryant C, Score J, Haferlach C, Grossmann V, Schwaab J, et al.
Haematologica
. 2012 Aug;
98(3):404-8.
PMID: 22875628
JAK2 fusion genes are rare but recurrent abnormalities associated with diverse, clinically heterogeneous hematologic malignancies. Here we assess the JAK1/2 inhibitor ruxolitinib as therapy for patients with JAK2-rearrangement associated myeloproliferative...