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J. Score · SciRah

Researcher profile · Semantic Scholar

J. Score

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J. Score — researcher profile on SciRah

h-index: 29
Works: 61
Citations: 7,410

Most-cited papers

Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
E. Papaemmanuil, M. Cazzola, J. Boultwood, L. Malcovati +44 more
2011New England Journal of Medicine1,259 citations Open access
Semantic Scholar
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
T. Ernst, A. Chase, J. Score, Claire E. Hidalgo-Curtis +14 more
2010Nature Genetics1,205 citations
Semantic Scholar
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.
A. Jones, S. Kreil, K. Zoi, K. Waghorn +21 more
2005Blood934 citations Open access
Semantic Scholar
Mutations and prognosis in primary myelofibrosis
A. Vannucchi, T. Lasho, P. Guglielmelli, F. Biamonte +28 more
2013Leukemia779 citations Open access
Semantic Scholar
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer
L. Forsberg, C. Rasi, N. Malmqvist, H. Davies +16 more
2014Nature Genetics436 citations Open access
Semantic Scholar
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
F. Grand, Claire E. Hidalgo-Curtis, T. Ernst, K. Zoi +13 more
2008Blood403 citations
Semantic Scholar
The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients
P. Guglielmelli, T. Lasho, G. Rotunno, J. Score +24 more
2014Leukemia308 citations Open access
Semantic Scholar
EZH2 mutational status predicts poor survival in myelofibrosis.
P. Guglielmelli, F. Biamonte, J. Score, Claire E. Hidalgo-Curtis +14 more
2011Blood270 citations Open access
Semantic Scholar
Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia.
J. Jovanovic, J. Score, K. Waghorn, D. Cilloni +19 more
2007Blood208 citations Open access
Semantic Scholar
Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.
J. Score, Claire E. Hidalgo-Curtis, A. Jones, N. Winkelmann +8 more
2012Blood189 citations
Semantic Scholar
Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma
G. Metzgeroth, C. Walz, J. Score, R. Siebert +24 more
2007Leukemia165 citations Open access
Semantic Scholar
Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophilia
J. Score, C. Curtis, K. Waghorn, M. Stalder +3 more
2006Leukemia128 citations Open access
Semantic Scholar
Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3.
C. Walz, P. Erben, Michael Ritter, A. Bloor +10 more
2011Blood88 citations Open access
Semantic Scholar
In search of the original leukemic clone in chronic myeloid leukemia patients in complete molecular remission after stem cell transplantation or imatinib.
M. Sobrinho-Simões, Vicki Wilczek, J. Score, N. Cross +2 more
2010Blood88 citations
Semantic Scholar
Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis
P. Erben, D. Gosenca, M. Müller, J. Reinhard +10 more
2010Haematologica86 citations Open access
Semantic Scholar
Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes
J. Schwaab, M. Knut, C. Haferlach, G. Metzgeroth +11 more
2015Annals of Hematology82 citations
Semantic Scholar
Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms
T. Ernst, A. Chase, K. Zoi, K. Waghorn +7 more
2010Haematologica75 citations Open access
Semantic Scholar
Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome
A. Chase, Catherine Bryant, J. Score, N. Cross
2013Haematologica72 citations Open access
Semantic Scholar
Developmental origins and impact of BCR-ABL1 fusion and IKZF1 deletions in monozygotic twins with Ph+ acute lymphoblastic leukemia.
G. Cazzaniga, F. V. van Delft, L. Lo Nigro, A. Ford +7 more
2011Blood71 citations Open access
Semantic Scholar
Immunologically silent cancer clone transmission from mother to offspring
T. Isoda, A. Ford, D. Tomizawa, F. V. van Delft +9 more
2009Proceedings of the National Academy of Sciences of the United States of America70 citations Open access
Semantic Scholar
Analysis of genomic breakpoints in p190 and p210 BCR–ABL indicate distinct mechanisms of formation
J. Score, Maria J. José Calasanz, O. Ottman, Fabrizio Pane +10 more
2010Leukemia69 citations
Semantic Scholar
Cytogenetically cryptic ZMYM2-FLT3 and DIAPH1-PDGFRB gene fusions in myeloid neoplasms with eosinophilia
M. Jawhar, N. Naumann, M. Knut, J. Score +14 more
2017Leukemia48 citations Open access
Semantic Scholar
Impact of isolated germline JAK2V617I mutation on human hematopoiesis.
A. Mead, Onima Chowdhury, C. Pecquet, A. Dusa +15 more
2013Blood46 citations Open access
Semantic Scholar
Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia
T. Ernst, J. Score, M. Deininger, Claire E. Hidalgo-Curtis +5 more
2011British Journal of Haematology43 citations
Semantic Scholar
Detection and molecular monitoring of FIP1L1-PDGFRA-positive disease by analysis of patient-specific genomic DNA fusion junctions
J. Score, C. Walz, J. Jovanovic, A. Jones +7 more
2009Leukemia41 citations Open access
Semantic Scholar
Cough and hypereosinophilia due to FIP1L1-PDGFRA fusion gene with tyrosine kinase activity
Kian F. Chung, M. Hew, J. Score, A. Jones +3 more
2006European Respiratory Journal40 citations Open access
Semantic Scholar
Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements
A. Chase, Catherine Bryant, J. Score, C. Haferlach +5 more
2013Haematologica37 citations Open access
Semantic Scholar
IDH2 somatic mutations in chronic myeloid leukemia patients in blast crisis
S. Soverini, J. Score, I. Iacobucci, Angela Poerio +15 more
2011Leukemia32 citations Open access
Semantic Scholar
The molecular anatomy of the FIP1L1-PDGFRA fusion gene
C. Walz, J. Score, Jürgen Mix, D. Cilloni +14 more
2009Leukemia32 citations
Semantic Scholar
Distribution of genomic breakpoints in chronic myeloid leukemia: analysis of 308 patients
D. Ross, M. O'Hely, P. Bartley, P. Dang +8 more
2013Leukemia26 citations Open access
Semantic Scholar
Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations
William Tapper, N. Foulds, N. Cross, P. Aranaz +7 more
2014PLoS ONE25 citations Open access
Semantic Scholar
Is cancer latency an outdated concept? Lessons from chronic myeloid leukemia
M. Abecasis, N. Cross, M. Brito, I. Ferreira +4 more
2020Leukemia17 citations Open access
Semantic Scholar
Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals
J. Score, A. Chase, L. Forsberg, L. Feng +7 more
2015Leukemia17 citations
Semantic Scholar
PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age related clonal hematopoiesis and myeloid neoplasia
A. Chase, A. Pellagatti, Shalini Singh, J. Score +12 more
2018Leukemia15 citations Open access
Semantic Scholar
Acquired uniparental disomy in myeloproliferative neoplasms.
J. Score, N. Cross
2012Hematology/Oncology Clinics of North America14 citations
Semantic Scholar
Mutational mechanisms of EZH2 inactivation in myeloid neoplasms
A. Chase, J. Score, F. Lin, Catherine Bryant +7 more
2020Leukemia12 citations Open access
Semantic Scholar
Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
A. Chase, W. Leung, W. Tapper, A. Jones +17 more
2015Leukemia12 citations Open access
Semantic Scholar
Recurrent CEP85L–PDGFRB fusion in patient with t(5;6) and imatinib-responsive myeloproliferative neoplasm with eosinophilia
N. Winkelmann, Claire E. Hidalgo-Curtis, K. Waghorn, J. Score +4 more
2013Leukemia and Lymphoma11 citations
Semantic Scholar
Prognostic Impact of EZH2 and ASXL1 Mutation in Myelofibrosis
P. Guglielmelli, F. Biamonte, J. Score, Claire E. Hidalgo-Curtis +15 more
20118 citations
Semantic Scholar
Genomic translocation breakpoint sequences are conserved in BCR-ABL1 cell lines despite the presence of amplification.
D. Ross, L. Schafranek, T. Hughes, M. Nicola +2 more
2009Cancer Genetics and Cytogenetics8 citations
Semantic Scholar
Whole-Transcriptome Sequencing In Chronic Myeloid Leukemia Reveals Novel Gene Mutations That May Be Associated with Disease Pathogenesis and Progression
S. Soverini, Angela Poerio, A. Ferrarini, I. Iacobucci +15 more
20105 citations
Semantic Scholar
Genome-wide analysis defines genetic determinants of MPN subtypes and identifies a sex-specific association at CDH22/CD40.
William J. Tapper, A. Dawoud, J. Score, Andrew J Chase +16 more
2025Blood4 citations Open access
Semantic Scholar
Effect of the Number of Prognostically Relevant Mutated Genes on Survival and Leukemia Progression in Primary Myelofibrosis
T. Lasho, F. Biamonte, J. Score, C. Mannarelli +21 more
20134 citations
Semantic Scholar
Prognostic Impact of Mutations in a Large Series of Patients with Myelofibrosis
P. Guglielmelli, F. Biamonte, A. Pereira, J. Score +17 more
20122 citations
Semantic Scholar
Analysis of T(9;22) breakpoints indicates that P210 and P190 BCR-ABL are formed by distinct mechanisms
J. Score, Maria J. José Calasanz, F. Pane, O. Ottmann +2 more
20072 citations
Semantic Scholar
Low-dose imatinib therapy leads to rapid induction of major molecular responses with achievement of molecular remission in FIP1L1 -PDGFRA associated hypereosinophilic syndrome
J. Jovanovic, J. Score, K. Waghorn, A. Reiter +8 more
20062 citations Open access
Semantic Scholar
Identification of B56α, B56γ and BAP1 as PRR14L binding partners
A. Chase, Gonzalo Carreño-Tarragona, F. Lin, Sarah Yapp +3 more
2023bioRxiv1 citations Open access
Semantic Scholar
Loss of Non-Inherited Maternal MHC and Materno-Fetal Transmission of p190 Type BCR-ABL Leukemia.
T. Isoda, A. Ford, D. Tomizawa, F. V. van Delft +9 more
20091 citations
Semantic Scholar
How cured are CML patients in complete molecular remission (CMR) after stem cell transplantation or imatinib
M. Simões, J. Score, N. Cross, J. Apperley +1 more
20071 citations
Semantic Scholar
Sensitive Detection of FIP1L1-PDGFRA Fusion Transcripts by Real-Time Quantitative RT-PCR (RQ-PCR) Reveals Achievement of Molecular Remission in Chronic Eosinophilic Leukemia Treated with Low-Dose Imatinib Therapy.
J. Jovanovic, A. Reiter, D. Cilloni, E. Gottardi +17 more
20051 citations
Semantic Scholar

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A. Reiter×21
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A. Chase×14
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A. Jones×13
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K. Zoi — researcher profile on SciRah

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T. Ernst — researcher profile on SciRah

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F. Grand — researcher profile on SciRah

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G. Metzgeroth — researcher profile on SciRah