Publications:

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Next-Generation Sequencing Panel Test in Myeloid Neoplasms and Evaluation with the Clinical Results.

The Eurasian Journal Of Medicine

Kahraman, Cigdem Yuce CY; Sincan, Gulden G; Tatar, Abdulgani A

Publication Date: 2022-06

Variant appearance in text: JAK2: C618R

PubMed Link: 35703527

Variant Present in the following documents:

• Main text
• eajm-54-2-181.pdf

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Genetic Background of Polycythemia Vera.

Genes

Regimbeau, Mathilde M; Mary, Romain R; Hermetet, François F; Girodon, François F

Publication Date: 2022-04-02

Variant appearance in text: JAK2: C618R

PubMed Link: 35456443

Variant Present in the following documents:

• Main text
• genes-13-00637.pdf

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Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.

Jci Insight

Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R

Publication Date: 2022-04-22

Variant appearance in text: JAK2: C618R

PubMed Link: 35259128

Variant Present in the following documents:

• jciinsight-7-156534-s067.xlsx, sheet 1

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: JAK2: C618R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: JAK2: 1852T>C; C618R

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Janus Kinases in Leukemia.

Cancers

Raivola, Juuli J; Haikarainen, Teemu T; Abraham, Bobin George BG; Silvennoinen, Olli O

Publication Date: 2021-02-14

Variant appearance in text: JAK2: C618R

PubMed Link: 33672930

Variant Present in the following documents:

• Main text
• cancers-13-00800.pdf

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Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Clinical Case Reports

Geay, Antoine A; Aral, Bernard B; Bourgeois, Valentin V; Martin, Pauline P; Airaud, Fabrice F; Garrec, Céline C; Bézieau, Stéphane S; Gardie, Betty B; Girodon, François F

Publication Date: 2020-05

Variant appearance in text: JAK2: C618R

PubMed Link: 32477518

Variant Present in the following documents:

• Main text
• CCR3-8-790.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: JAK2: C618R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Mechanism of homodimeric cytokine receptor activation and dysregulation by oncogenic mutations.

Science (New York, N.Y.)

Wilmes, Stephan S; Hafer, Maximillian M; Vuorio, Joni J; Tucker, Julie A JA; Winkelmann, Hauke H; Löchte, Sara S; Stanly, Tess A TA; Pulgar Prieto, Katiuska D KD; Poojari, Chetan C; Sharma, Vivek V; Richter, Christian P CP; Kurre, Rainer R; Hubbard, Stevan R SR; Garcia, K Christopher KC; Moraga, Ignacio I; Vattulainen, Ilpo I; Hitchcock, Ian S IS; Piehler, Jacob J

Publication Date: 2020-02-07

Variant appearance in text: JAK2: C618R

PubMed Link: 32029621

Variant Present in the following documents:

• Main text

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Development of a high resolution melting analysis assay for rapid identification of JAK2 V617F missense mutation and its validation.

Experimental Hematology & Oncology

Moradabadi, Alireza A; Farsinejad, Alireza A; Khansarinejad, Behzad B; Fatemi, Ahamd A

Publication Date: 2019

Variant appearance in text: JAK2: C618R

PubMed Link: 31165012

Variant Present in the following documents:

• Main text
• 40164_2019_Article_134.pdf

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Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.

Journal Of Cancer

Akram, Afia Muhammad AM; Kausar, Humera H; Chaudhary, Asma A; Khalid, Ahmad Mukhtar AM; Shahzad, Muhammad Mudassar MM; Akhtar, Muhammad Waheed MW; Sabar, Muhammad Farooq MF; Sajid, Nadia N; Anazi, Nawaf Al NA; Aleem, Aamer A; Iqbal, Zafar Z

Publication Date: 2018

Variant appearance in text: JAK2: C618R

PubMed Link: 30519338

Variant Present in the following documents:

• Main text
• jcav09p4341.pdf

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p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Haematologica

Eder-Azanza, Laura L; Hurtado, Cristina C; Navarro-Herrera, David D; Aranaz, Paula P; Novo, Francisco J FJ; Vizmanos, José L JL

Publication Date: 2017-08

Variant appearance in text: JAK2: C618R

PubMed Link: 28473624

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: JAK2: C618R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology.

Bmc Medical Genetics

Paradis, François W FW; Simard, Raynald R; Gaudet, Daniel D

Publication Date: 2010-04-01

Variant appearance in text: JAK2: C618R

PubMed Link: 20359349

Variant Present in the following documents:

• Main text

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Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.

Bmc Structural Biology

Lee, Tai-Sung TS; Ma, Wanlong W; Zhang, Xi X; Kantarjian, Hagop H; Albitar, Maher M

Publication Date: 2009-09-10

Variant appearance in text: JAK2: C618R

PubMed Link: 19744331

Variant Present in the following documents:

• Main text
• 1472-6807-9-58.pdf

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High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms.

The Journal Of Molecular Diagnostics : Jmd

Rapado, Inmaculada I; Grande, Silvia S; Albizua, Enriqueta E; Ayala, Rosa R; Hernández, José-Angel JA; Gallardo, Miguel M; Gilsanz, Florinda F; Martinez-Lopez, Joaquin J

Publication Date: 2009-03

Variant appearance in text: JAK2: C618R

PubMed Link: 19225136

Variant Present in the following documents:

• Main text

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Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias.

The Journal Of Molecular Diagnostics : Jmd

Ma, Wanlong W; Kantarjian, Hagop H; Zhang, Xi X; Yeh, Chen-Hsiung CH; Zhang, Zhong J ZJ; Verstovsek, Srdan S; Albitar, Maher M

Publication Date: 2009-01

Variant appearance in text: JAK2: C618R

PubMed Link: 19074595

Variant Present in the following documents:

• Main text

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Comparison of mutated ABL1 and JAK2 as oncogenes and drug targets in myeloproliferative disorders.

Leukemia

Walz, C C; Cross, N C P NC; Van Etten, R A RA; Reiter, A A

Publication Date: 2008-07

Variant appearance in text: JAK2: C618R

PubMed Link: 18528425

Variant Present in the following documents:

• Main text

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