Publications:

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The Contribution of JAK2 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences

Paes, Jhemerson J; Silva, George A V GAV; Tarragô, Andréa M AM; Mourão, Lucivana P de Souza LPS

Publication Date: 2022-10-20

Variant appearance in text: rs12340895

PubMed Link: 36293440

Variant Present in the following documents:

• Main text
• ijms-23-12582.pdf

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The Genomic Landscape in Philadelphia-Negative Myeloproliferative Neoplasm Patients with Second Cancers.

Cancers

Hsu, Chia-Chen CC; Wang, Ying-Hsuan YH; Chen, Yi-Yang YY; Chen, Ying-Ju YJ; Lu, Chang-Hsien CH; Wu, Yu-Ying YY; Yang, Yao-Ren YR; Tsou, Hsing-Yi HY; Li, Chian-Pei CP; Huang, Cih-En CE; Chen, Chih-Cheng CC

Publication Date: 2022-07-14

Variant appearance in text: rs12340895

PubMed Link: 35884495

Variant Present in the following documents:

• Main text
• cancers-14-03435.pdf

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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances

Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF

Publication Date: 2022-08-23

Variant appearance in text: rs12340895

PubMed Link: 35381074

Variant Present in the following documents:

• Main text
• advancesADV2021005648.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs12340895

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Blood Advances

Brown, Anna L AL; Arts, Peer P; Carmichael, Catherine L CL; Babic, Milena M; Dobbins, Julia J; Chong, Chan-Eng CE; Schreiber, Andreas W AW; Feng, Jinghua J; Phillips, Kerry K; Wang, Paul P S PPS; Ha, Thuong T; Homan, Claire C CC; King-Smith, Sarah L SL; Rawlings, Lesley L; Vakulin, Cassandra C; Dubowsky, Andrew A; Burdett, Jessica J; Moore, Sarah S; McKavanagh, Grace G; Henry, Denae D; Wells, Amanda A; Mercorella, Belinda B; Nicola, Mario M; Suttle, Jeffrey J; Wilkins, Ella E; Li, Xiao-Chun XC; Michaud, Joelle J; Brautigan, Peter P; Cannon, Ping P; Altree, Meryl M; Jaensch, Louise L; Fine, Miriam M; Butcher, Carolyn C; D'Andrea, Richard J RJ; Lewis, Ian D ID; Hiwase, Devendra K DK; Papaemmanuil, Elli E; Horwitz, Marshall S MS; Natsoulis, Georges G; Rienhoff, Hugh Y HY; Patton, Nigel N; Mapp, Sally S; Susman, Rachel R; Morgan, Susan S; Cooney, Julian J; Currie, Mark M; Popat, Uday U; Bochtler, Tilmann T; Izraeli, Shai S; Bradstock, Kenneth K; Godley, Lucy A LA; Krämer, Alwin A; Fröhling, Stefan S; Wei, Andrew H AH; Forsyth, Cecily C; Mar Fan, Helen H; Poplawski, Nicola K NK; Hahn, Christopher N CN; Scott, Hamish S HS

Publication Date: 2020-03-24

Variant appearance in text: rs12340895

PubMed Link: 32208489

Variant Present in the following documents:

• Main text

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The epidemiology and clinical characteristics of myeloproliferative neoplasms in Malaysia.

Experimental Hematology & Oncology

Yap, Yee Yee YY; Law, Kian Boon KB; Sathar, Jameela J; Lau, Ngee Siang NS; Goh, Ai Sim AS; Chew, Teng Keat TK; Lim, Soo Min SM; Menon, Padmini P; Guan, Yong Khee YK; Husin, Azlan Bin AB; Wong, Lily Lee Lee LLL; Chew, Lee Ping LP; Salleh, Sinari S; Goh, Kim Yen KY; Leong, Kin Wah KW; Tan, Sen Mui SM; Ong, Tee Chuan TC; Lim, Su Hong SH; Toh, See Guan SG; Han, Xavier Sim Yoon XSY; Edmund, Syed Carlo SC; Tan, Jenq Tzong JT; Chang, Kian Meng KM

Publication Date: 2018

Variant appearance in text: rs12340895

PubMed Link: 30564475

Variant Present in the following documents:

• Main text

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Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics

,

Publication Date: 2018-11-27

Variant appearance in text: rs12340895

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

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The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

International Journal Of Molecular Sciences

Anelli, Luisa L; Zagaria, Antonella A; Specchia, Giorgina G; Albano, Francesco F

Publication Date: 2018-04-11

Variant appearance in text: rs12340895

PubMed Link: 29641446

Variant Present in the following documents:

• Main text
• ijms-19-01152.pdf

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Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.

Oncotarget

Chiang, Yi-Hao YH; Chang, Yu-Cheng YC; Lin, Huan-Chau HC; Huang, Ling L; Cheng, Chun-Chia CC; Wang, Wei-Ting WT; Cheng, Hung-I HI; Su, Nai-Wen NW; Chen, Caleb Gon-Shen CG; Lin, Johnson J; Chang, Yi-Fang YF; Chang, Ming-Chih MC; Hsieh, Ruey-Kuen RK; Chou, Wen-Chien WC; Lim, Ken-Hong KH; Kuo, Yuan-Yeh YY

Publication Date: 2017-09-29

Variant appearance in text: rs12340895

PubMed Link: 29100304

Variant Present in the following documents:

• Main text
• oncotarget-08-76204.pdf

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Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.

European Journal Of Human Genetics : Ejhg

Tawana, Kiran K; Wang, Jun J; Király, Péter A PA; Kállay, Krisztián K; Benyó, Gábor G; Zombori, Marianna M; Csomor, Judit J; Al Seraihi, Ahad A; Rio-Machin, Ana A; Matolcsy, András A; Chelala, Claude C; Cavenagh, Jamie J; Fitzgibbon, Jude J; Bödör, Csaba C

Publication Date: 2017-08

Variant appearance in text: rs12340895

PubMed Link: 28513614

Variant Present in the following documents:

• Main text

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Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

Journal Of Clinical Laboratory Analysis

Yoo, Eun-Hyung EH; Park, Kyung-Jin KJ; Won, Hong-Hee HH; Park, Jun-Hee JH; Park, Jong-Ho JH; Lee, Seung-Tae ST; Kim, Hee-Jin HJ; Bang, Soo-Mee SM; Chi, Hyun-Sook HS; Jung, Chul Won CW; Kim, Sun-Hee SH; Yun, Hongseok H; Sun, Choong-Hyun CH; Park, Inho I; Lee, Seungmook S; Lee, Clarence C; Merriman, Barry B; Luo, Raymond R; Tan, Eileen Hwee Hong EH; Park, Keun-Joon KJ; Yoo, Na-Kyung NK; Kang, Jason J JJ; Kim, Jong-Won JW

Publication Date: 2016-11

Variant appearance in text: rs12340895

PubMed Link: 27132877

Variant Present in the following documents:

• Main text

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Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children.

Leukemia

Fu, R R; Liu, D D; Cao, Z Z; Zhu, S S; Li, H H; Su, H H; Zhang, L L; Xue, F F; Liu, X X; Zhang, X X; Cheng, T T; Yang, R R; Zhang, L L

Publication Date: 2016-03

Variant appearance in text: rs12340895

PubMed Link: 26118316

Variant Present in the following documents:

• Main text

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Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.

Nature Communications

Tapper, William W; Jones, Amy V AV; Kralovics, Robert R; Harutyunyan, Ashot S AS; Zoi, Katerina K; Leung, William W; Godfrey, Anna L AL; Guglielmelli, Paola P; Callaway, Alison A; Ward, Daniel D; Aranaz, Paula P; White, Helen E HE; Waghorn, Katherine K; Lin, Feng F; Chase, Andrew A; Baxter, E Joanna EJ; Maclean, Cathy C; Nangalia, Jyoti J; Chen, Edwin E; Evans, Paul P; Short, Michael M; Jack, Andrew A; Wallis, Louise L; Oscier, David D; Duncombe, Andrew S AS; Schuh, Anna A; Mead, Adam J AJ; Griffiths, Michael M; Ewing, Joanne J; Gale, Rosemary E RE; Schnittger, Susanne S; Haferlach, Torsten T; Stegelmann, Frank F; Döhner, Konstanze K; Grallert, Harald H; Strauch, Konstantin K; Tanaka, Toshiko T; Bandinelli, Stefania S; Giannopoulos, Andreas A; Pieri, Lisa L; Mannarelli, Carmela C; Gisslinger, Heinz H; Barosi, Giovanni G; Cazzola, Mario M; Reiter, Andreas A; Harrison, Claire C; Campbell, Peter P; Green, Anthony R AR; Vannucchi, Alessandro A; Cross, Nicholas C P NC

Publication Date: 2015-04-07

Variant appearance in text: rs12340895

PubMed Link: 25849990

Variant Present in the following documents:

• Main text
• ncomms7691.pdf

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs12340895

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.

Bmc Genetics

Koh, Su Pin SP; Yip, Shea Ping SP; Lee, Kwok Kuen KK; Chan, Chi Chung CC; Lau, Sze Man SM; Kho, Chi Shan CS; Lau, Chi Kuen CK; Lin, Shek Ying SY; Lau, Yat Ming YM; Wong, Lap Gate LG; Au, Ka Leung KL; Wong, Kit Fai KF; Chu, Raymond W RW; Yu, Pui Hung PH; Chow, Eudora Y D EY; Leung, Kate F S KF; Tsoi, Wai Chiu WC; Yung, Benjamin Y M BY

Publication Date: 2014-12-20

Variant appearance in text: rs12340895

PubMed Link: 25526816

Variant Present in the following documents:

• Main text
• 12863_2014_Article_147.pdf

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JAK2V617F mRNA metabolism in myeloproliferative neoplasm cell lines.

Blood Cancer Journal

Nauroy, P P; Delhommeau, F F; Baklouti, F F

Publication Date: 2014-06-27

Variant appearance in text: rs12340895

PubMed Link: 24972151

Variant Present in the following documents:

• Main text
• bcj201443a.pdf

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A multidisciplinary investigation of a polycythemia vera cancer cluster of unknown origin.

International Journal Of Environmental Research And Public Health

Seaman, Vincent V; Dearwent, Steve M SM; Gable, Debra D; Lewis, Brian B; Metcalf, Susan S; Orloff, Ken K; Tierney, Bruce B; Zhu, Jane J; Logue, James J; Marchetto, David D; Ostroff, Stephen S; Hoffman, Ronald R; Xu, Mingjiang M; Carey, David D; Erlich, Porat P; Gerhard, Glenn G; Roda, Paul P; Iannuzzo, Joseph J; Lewis, Robert R; Mellow, John J; Mulvihill, Linda L; Myles, Zachary Z; Wu, Manxia M; Frank, Arthur A; Gross-Davis, Carol Ann CA; Klotz, Judith J; Lynch, Adam A; Weissfeld, Joel J; Weinberg, Rona R; Cole, Henry H

Publication Date: 2010-03

Variant appearance in text: rs12340895

PubMed Link: 20617023

Variant Present in the following documents:

• Main text
• ijerph-07-01139.pdf

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The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.

Blood

Jones, Amy V AV; Campbell, Peter J PJ; Beer, Philip A PA; Schnittger, Susanne S; Vannucchi, Alessandro M AM; Zoi, Katerina K; Percy, Melanie J MJ; McMullin, Mary Frances MF; Scott, Linda M LM; Tapper, William W; Silver, Richard T RT; Oscier, David D; Harrison, Claire N CN; Grallert, Harald H; Kisialiou, Aliaksei A; Strike, Paul P; Chase, Andrew J AJ; Green, Anthony R AR; Cross, Nicholas C P NC

Publication Date: 2010-06-03

Variant appearance in text: rs12340895

PubMed Link: 20304805

Variant Present in the following documents:

• Main text

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JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.

Nature Genetics

Jones, Amy V AV; Chase, Andrew A; Silver, Richard T RT; Oscier, David D; Zoi, Katerina K; Wang, Y Lynn YL; Cario, Holger H; Pahl, Heike L HL; Collins, Andrew A; Reiter, Andreas A; Grand, Francis F; Cross, Nicholas C P NC

Publication Date: 2009-04

Variant appearance in text: rs12340895

PubMed Link: 19287382

Variant Present in the following documents:

• Main text

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