Publications:

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[How I diagnose and treat essential thrombocythemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Zhang, L L; Fu, R F RF

Publication Date: 2023-01-14

Variant appearance in text: JAK2: V617I

PubMed Link: 36987719

Variant Present in the following documents:

• cjh-44-01-026.pdf

View BVdb publication page

---

Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: JAK2: 1849G>A; Val617Ile

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Unmanipulated haploidentical hematopoietic stem cell transplantation for pediatric de novo acute megakaryoblastic leukemia without Down syndrome in China: A single-center study.

Frontiers In Oncology

Huang, Junbin J; Hu, Guanhua G; Suo, Pan P; Bai, Lu L; Cheng, Yifei Y; Wang, Yu Y; Zhang, XiaoHui X; Liu, KaiYan K; Sun, YuQian Y; Xu, LanPing L; Kong, Jun J; Yan, ChenHua C; Huang, Xiaojun X

Publication Date: 2023

Variant appearance in text: JAK2: V617I

PubMed Link: 36874138

Variant Present in the following documents:

• Main text
• fonc-13-1116205.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: JAK2: 1849G>A; Val617Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.

Frontiers In Oncology

Li, Xiao-Qing XQ; Liu, Jia-Jun JJ; Liu, Cheng-Cheng CC

Publication Date: 2022

Variant appearance in text: JAK2: V617I

PubMed Link: 36483035

Variant Present in the following documents:

• Main text
• fonc-12-937362.pdf

View BVdb publication page

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Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.

Hgg Advances

Pillalamarri, Vamsee V; Shi, Wen W; Say, Conrad C; Yang, Stephanie S; Lane, John J; Guallar, Eliseo E; Pankratz, Nathan N; Arking, Dan E DE

Publication Date: 2023-01-12

Variant appearance in text: JAK2: Val617Ile

PubMed Link: 36311265

Variant Present in the following documents:

• Main text
• mmc3.pdf
• main.pdf

View BVdb publication page

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Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.

Haematologica

Lemoine, Sandrine S; Mornet, Clelia C; Quintin-Roue, Isabelle I; Rousselet, Marie-Christine MC; Cottin, Laurane L; Georgeais, Aurélie A; Dubouis, Ludovic L; Boyer, Françoise F; Orvain, Corentin C; Caillon, Clara C; Renard, Maxime M; Le Brun, Valoris V; Le Clech, Lenaig L; Ianotto, Jean-Christophe JC; Génin, Emmanuelle E; Burroni, Barbara B; Ugo, Valérie V; Luque Paz, Damien D; Lippert, Eric E

Publication Date: 2022-11-01

Variant appearance in text: JAK2: V617I

PubMed Link: 35833299

Variant Present in the following documents:

• 2022_280917_LEMOINE_SUPPL.pdf

View BVdb publication page

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EAHP 2020 workshop proceedings, pediatric myeloid neoplasms.

Virchows Archiv : An International Journal Of Pathology

Leguit, R J RJ; Orazi, A A; Kucine, N N; Kvasnicka, H M HM; Gianelli, U U; Arber, D A DA; Porwit, A A; Ponzoni, M M

Publication Date: 2022-10

Variant appearance in text: JAK2: V617I

PubMed Link: 35819517

Variant Present in the following documents:

• Main text
• 428_2022_Article_3375.pdf

View BVdb publication page

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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: V617I

PubMed Link: 35456443

Variant Present in the following documents:

• Main text
• genes-13-00637.pdf

View BVdb publication page

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Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Nature Communications

Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S

Publication Date: 2022-03-28

Variant appearance in text: JAK2: V617I

PubMed Link: 35347147

Variant Present in the following documents:

• 41467_2022_29336_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: V617I

PubMed Link: 35259128

Variant Present in the following documents:

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

View BVdb publication page

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Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Bmc Medical Genomics

Tan, Jaymi J; Chow, Yock Ping YP; Zainul Abidin, Norziha N; Chang, Kian Meng KM; Selvaratnam, Veena V; Tumian, Nor Rafeah NR; Poh, Yang Ming YM; Veerakumarasivam, Abhi A; Laffan, Michael Arthur MA; Wong, Chieh Lee CL

Publication Date: 2022-01-15

Variant appearance in text: rs77375493

PubMed Link: 35033063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Bmc Medical Genomics

Tan, Jaymi J; Chow, Yock Ping YP; Zainul Abidin, Norziha N; Chang, Kian Meng KM; Selvaratnam, Veena V; Tumian, Nor Rafeah NR; Poh, Yang Ming YM; Veerakumarasivam, Abhi A; Laffan, Michael Arthur MA; Wong, Chieh Lee CL

Publication Date: 2022-01-15

Variant appearance in text: rs77375493

PubMed Link: 35033063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oxidized Phospholipids Promote NETosis and Arterial Thrombosis in LNK(SH2B3) Deficiency.

Circulation

Dou, Huijuan H; Kotini, Andriana A; Liu, Wenli W; Fidler, Trevor T; Endo-Umeda, Kaori K; Sun, Xiaoli X; Olszewska, Malgorzata M; Xiao, Tong T; Abramowicz, Sandra S; Yalcinkaya, Mustafa M; Hardaway, Brian B; Tsimikas, Sotirios S; Que, Xuchu X; Bick, Alexander A; Emdin, Conor C; Natarajan, Pradeep P; Papapetrou, Eirini P EP; Witztum, Joseph L JL; Wang, Nan N; Tall, Alan R AR

Publication Date: 2021-12-14

Variant appearance in text: rs77375493

PubMed Link: 34846914

Variant Present in the following documents:

• cir-144-1940-s001.pdf
• cir-144-1940.pdf

View BVdb publication page

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Oxidized Phospholipids Promote NETosis and Arterial Thrombosis in LNK(SH2B3) Deficiency.

Circulation

Dou, Huijuan H; Kotini, Andriana A; Liu, Wenli W; Fidler, Trevor T; Endo Umeda, Kaori K; Sun, Xiaoli X; Olszewska, Malgorzata M; Xiao, Tong T; Abramowicz, Sandra S; Yalcinkaya, Mustafa M; Hardaway, Brian B; Tsimikas, Sotirios S; Que, Xuchu X; Bick, Alexander A; Emdin, Connor C; Natarajan, Pradeep P; Papapetrou, Eirini P EP; Witztum, Joseph L JL; Wang, Nan N; Tall, Alan R AR

Publication Date: 2021-11-30

Variant appearance in text: rs77375493

PubMed Link: 34846914

Variant Present in the following documents:

• cir-144-1940.pdf
• cir-144-1940-s001.pdf

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: JAK2: V617I

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Sequencing of Taiwanese Breast Cancer with Risk Stratification by the Concurrent Genes Signature: A Feasibility Study.

Journal Of Personalized Medicine

Huang, Ching-Shui CS; Liu, Chih-Yi CY; Lu, Tzu-Pin TP; Huang, Chi-Jung CJ; Chiu, Jen-Hwey JH; Tseng, Ling-Ming LM; Huang, Chi-Cheng CC

Publication Date: 2021-06-28

Variant appearance in text: JAK2: V617I; rs77375493

PubMed Link: 34203389

Variant Present in the following documents:

• Main text
• jpm-11-00613.pdf

View BVdb publication page

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Untwining Anti-Tumor and Immunosuppressive Effects of JAK Inhibitors-A Strategy for Hematological Malignancies?

Cancers

Klein, Klara K; Stoiber, Dagmar D; Sexl, Veronika V; Witalisz-Siepracka, Agnieszka A

Publication Date: 2021-05-26

Variant appearance in text: JAK2: V617I

PubMed Link: 34073410

Variant Present in the following documents:

• Main text

View BVdb publication page

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A New Insight for the Identification of Oncogenic Variants in Breast and Prostate Cancers in Diverse Human Populations, With a Focus on Latinos.

Frontiers In Pharmacology

Varela, Nelson M NM; Guevara-Ramírez, Patricia P; Acevedo, Cristian C; Zambrano, Tomás T; Armendáriz-Castillo, Isaac I; Guerrero, Santiago S; Quiñones, Luis A LA; López-Cortés, Andrés A

Publication Date: 2021

Variant appearance in text: rs77375493

PubMed Link: 33912047

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Annals Of Hematology

Stockklausner, Clemens C; Duffert, C M CM; Cario, H H; Knöfler, R R; Streif, W W; Kulozik, A E AE; ,

Publication Date: 2021-07

Variant appearance in text: JAK2: V617I

PubMed Link: 33712866

Variant Present in the following documents:

• Main text
• 277_2021_Article_4485.pdf

View BVdb publication page

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[Myelodysplastic syndrome with chromosome 5q deletion and philadelphia chromosome: case report and literatures review].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Zhang, Y Q YQ; Liu, R T RT; Pan, J Q JQ; Xu, P P; Li, X Y XY; Yu, L Q LQ; Gao, H Y HY; Jiang, Y F YF

Publication Date: 2020-11-14

Variant appearance in text: rs77375493

PubMed Link: 33333699

Variant Present in the following documents:

• Main text

View BVdb publication page

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[Hematologic malignancies with coexisting t(9;22) and inv(16) chromosomal abnormalities: report of three cases and literature review].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Fu, H X HX; Gu, Y Q YQ; Lai, Y Y YY; Qin, Y Z YZ; Wang, J Z JZ; Chen, H H; Xu, L P LP; Zhang, X H XH; Liu, K Y KY; Huang, X J XJ; Jiang, H H

Publication Date: 2020-11-14

Variant appearance in text: rs77375493

PubMed Link: 33333698

Variant Present in the following documents:

• cjh-41-11-937.pdf

View BVdb publication page

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Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances

Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV

Publication Date: 2020-12

Variant appearance in text: JAK2: V617I

PubMed Link: 33298453

Variant Present in the following documents:

• abe3722_Table_S3.xlsx, sheet 3
• abe3722_Table_S3.xlsx, sheet 5

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs77375493

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: rs77375493

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology

Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR

Publication Date: 2020-04-01

Variant appearance in text: rs77375493

PubMed Link: 32049305

Variant Present in the following documents:

• jamacardiol-5-390-s001.pdf

View BVdb publication page

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White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications

Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE

Publication Date: 2020-01-27

Variant appearance in text: JAK2: V617I

PubMed Link: 31988276

Variant Present in the following documents:

• 41467_2020_14310_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 7
• 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 8

View BVdb publication page

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Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Hematology. American Society Of Hematology. Education Program

McMullin, Mary Frances MF

Publication Date: 2019-12-06

Variant appearance in text: JAK2: V617I

PubMed Link: 31808840

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.

Nature Genetics

Klarin, Derek D; Busenkell, Emma E; Judy, Renae R; Lynch, Julie J; Levin, Michael M; Haessler, Jeffery J; Aragam, Krishna K; Chaffin, Mark M; Haas, Mary M; Lindström, Sara S; Assimes, Themistocles L TL; Huang, Jie J; Min Lee, Kyung K; Shao, Qing Q; Huffman, Jennifer E JE; Kabrhel, Christopher C; Huang, Yunfeng Y; Sun, Yan V YV; Vujkovic, Marijana M; Saleheen, Danish D; Miller, Donald R DR; Reaven, Peter P; DuVall, Scott S; Boden, William E WE; Pyarajan, Saiju S; Reiner, Alex P AP; Trégouët, David-Alexandre DA; Henke, Peter P; Kooperberg, Charles C; Gaziano, J Michael JM; Concato, John J; Rader, Daniel J DJ; Cho, Kelly K; Chang, Kyong-Mi KM; Wilson, Peter W F PWF; Smith, Nicholas L NL; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Kathiresan, Sekar S; Obi, Andrea A; Damrauer, Scott M SM; Natarajan, Pradeep P; , ; ,

Publication Date: 2019-11

Variant appearance in text: rs77375493

PubMed Link: 31676865

Variant Present in the following documents:

• Main text
• nihms-1540585.pdf

View BVdb publication page

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Experimental Modeling of Myeloproliferative Neoplasms.

Genes

Lanikova, Lucie L; Babosova, Olga O; Prchal, Josef T JT

Publication Date: 2019-10-15

Variant appearance in text: JAK2: V617I

PubMed Link: 31618985

Variant Present in the following documents:

• Main text
• genes-10-00813.pdf

View BVdb publication page

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Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine

Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X

Publication Date: 2019-03

Variant appearance in text: N/A

PubMed Link: 30857943

Variant Present in the following documents:

View BVdb publication page

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Cost-effective and robust genotyping using double-mismatch allele-specific quantitative PCR.

Scientific Reports

Lefever, Steve S; Rihani, Ali A; Van der Meulen, Joni J; Pattyn, Filip F; Van Maerken, Tom T; Van Dorpe, Jo J; Hellemans, Jan J; Vandesompele, Jo J

Publication Date: 2019-02-15

Variant appearance in text: rs77375493

PubMed Link: 30770838

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline JAK2 L611S mutation in a child with thrombocytosis.

Haematologica

Aral, Bernard B; Courtois, Martine M; Ragot, Sylviane S; Bourgeois, Valentin V; Bottolier-Lemallaz, Elodie E; Briandet, Claire C; Girodon, François F

Publication Date: 2018-08

Variant appearance in text: JAK2: V617I

PubMed Link: 29567786

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs77375493

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Myeloproliferative neoplasms: from origins to outcomes.

Hematology. American Society Of Hematology. Education Program

Nangalia, Jyoti J; Green, Anthony R AR

Publication Date: 2017-12-08

Variant appearance in text: JAK2: V617I

PubMed Link: 29222295

Variant Present in the following documents:

• Main text

View BVdb publication page

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tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Bioinformatics (Oxford, England)

Wei, Chih-Hsuan CH; Phan, Lon L; Feltz, Juliana J; Maiti, Rama R; Hefferon, Tim T; Lu, Zhiyong Z

Publication Date: 2018-01-01

Variant appearance in text: rs77375493

PubMed Link: 28968638

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Frontiers In Endocrinology

Plo, Isabelle I; Bellanné-Chantelot, Christine C; Mosca, Matthieu M; Mazzi, Stefania S; Marty, Caroline C; Vainchenker, William W

Publication Date: 2017

Variant appearance in text: JAK2: V617I

PubMed Link: 28955303

Variant Present in the following documents:

• Main text
• fendo-08-00234.pdf

View BVdb publication page

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Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Journal Of Hematology & Oncology

Juskevicius, Darius D; Jucker, David D; Klingbiel, Dirk D; Mamot, Christoph C; Dirnhofer, Stephan S; Tzankov, Alexandar A

Publication Date: 2017-03-17

Variant appearance in text: rs77375493

PubMed Link: 28302137

Variant Present in the following documents:

• 13045_2017_438_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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JAK1 Genomic Alteration Associated With Exceptional Response to Siltuximab in Cutaneous Castleman Disease.

Jama Dermatology

Patel, Maulik M; Ikeda, Sadakatsu S; Pilat, Susan R SR; Kurzrock, Razelle R

Publication Date: 2017-05-01

Variant appearance in text: JAK2: V617I

PubMed Link: 28241173

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: JAK2: 1849G>A; V617I

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

Blood

Rumi, Elisa E; Cazzola, Mario M

Publication Date: 2017-02-09

Variant appearance in text: JAK2: V617I

PubMed Link: 28028026

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation.

Journal Of The National Comprehensive Cancer Network : Jnccn

Lee, Justin J; Axilbund, Jennifer J; Dalton, W Brian WB; Laheru, Daniel D; Watkins, Stanley S; Chu, David D; Cravero, Karen K; Button, Berry B; Kyker-Snowman, Kelly K; Waters, Ian I; Gocke, Christopher D CD; Lauring, Josh J; Park, Ben Ho BH

Publication Date: 2016-12

Variant appearance in text: JAK2: V617I

PubMed Link: 27956534

Variant Present in the following documents:

• Main text

View BVdb publication page

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Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

Blood

Lanikova, Lucie L; Babosova, Olga O; Swierczek, Sabina S; Wang, Linghua L; Wheeler, David A DA; Divoky, Vladimir V; Korinek, Vladimir V; Prchal, Josef T JT

Publication Date: 2016-11-03

Variant appearance in text: JAK2: V617I

PubMed Link: 27647865

Variant Present in the following documents:

• Main text

View BVdb publication page

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Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

Human Reproduction (Oxford, England)

Tšuiko, O O; Nõukas, M M; Žilina, O O; Hensen, K K; Tapanainen, J S JS; Mägi, R R; Kals, M M; Kivistik, P A PA; Haller-Kikkatalo, K K; Salumets, A A; Kurg, A A

Publication Date: 2016-08

Variant appearance in text: rs77375493

PubMed Link: 27301361

Variant Present in the following documents:

• Main text

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: rs77375493

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

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Genomic landscape of megakaryopoiesis and platelet function defects.

Blood

Bianchi, Elisa E; Norfo, Ruggiero R; Pennucci, Valentina V; Zini, Roberta R; Manfredini, Rossella R

Publication Date: 2016-03-10

Variant appearance in text: JAK2: V617I

PubMed Link: 26787733

Variant Present in the following documents:

• Main text

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Myeloproliferative Neoplasms in Children.

Journal Of Hematopathology

Hofmann, Inga I

Publication Date: 2015-09

Variant appearance in text: JAK2: V617I

PubMed Link: 26609329

Variant Present in the following documents:

• Main text

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JAK2(V617I) results in cytokine hypersensitivity without causing an overt myeloproliferative disorder in a mouse transduction-transplantation model.

Experimental Hematology

Brooks, Stefan A SA; Luty, Samuel B SB; Lai, Hew Yeng HY; Morse, Sarah J SJ; Nguyen, Thanh Kim TK; Royer, Lacey R LR; Agarwal, Anupriya A; Druker, Brian J BJ; Fleischman, Angela G AG

Publication Date: 2016-01

Variant appearance in text: JAK2: V617I

PubMed Link: 26458983

Variant Present in the following documents:

• Main text

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JAK2 mutations to the fore in hereditary thrombocythemia.

Jak-Stat

Langabeer, Stephen E SE

Publication Date: 2014

Variant appearance in text: JAK2: V617I

PubMed Link: 26413420

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: JAK2: V617I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Back to biology: new insights on inheritance in myeloproliferative disorders.

Current Hematologic Malignancy Reports

Braunstein, Evan M EM; Moliterno, Alison R AR

Publication Date: 2014-12

Variant appearance in text: JAK2: V617I

PubMed Link: 25195195

Variant Present in the following documents:

• Main text

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Response to 'pervasive sequence patents cover the entire human genome' - authors' reply.

Genome Medicine

Rosenfeld, Jeffrey J; Mason, Christopher C

Publication Date: 2014

Variant appearance in text: rs77375493

PubMed Link: 24764495

Variant Present in the following documents:

• Main text
• gm532.pdf

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A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.

Biomed Research International

Wu, Zhiyuan Z; Zhang, Yunqing Y; Zhang, Xinju X; Xu, Xiao X; Kang, Zhihua Z; Li, Shibao S; Zhang, Chen C; Su, Bing B; Guan, Ming M

Publication Date: 2014

Variant appearance in text: JAK2: 1849G>A; V617I

PubMed Link: 24729973

Variant Present in the following documents:

• Main text

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Inherited predisposition to myeloproliferative neoplasms.

Therapeutic Advances In Hematology

Jones, Amy V AV; Cross, Nicholas C P NC

Publication Date: 2013-08

Variant appearance in text: JAK2: V617I

PubMed Link: 23926457

Variant Present in the following documents:

• Main text

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Germline counterparts of oncogenic mutations: who gives a JAK?.

Oncotarget

Mead, Adam J AJ; Constantinescu, Stefan N SN; Jacobsen, Sten Eirik SE

Publication Date: 2013-06

Variant appearance in text: JAK2: V617I

PubMed Link: 23867309

Variant Present in the following documents:

• oncotarget-04-814.pdf

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Clinical utility gene card for: hereditary thrombocythemia.

European Journal Of Human Genetics : Ejhg

Hussein, Kais K; Percy, Melanie M; McMullin, Mary Frances MF; Schwarz, Jiří J; Schnittger, Susanne S; Porret, Naomi N; Martinez-Aviles, Luz Maria LM; Paricio, Beatriz Bellosillo BB; Giraudier, Stéphane S; Skoda, Radek R; Lippert, Eric E; Hermouet, Sylvie S; Cario, Holger H

Publication Date: 2014-02

Variant appearance in text: JAK2: V617I

PubMed Link: 23736217

Variant Present in the following documents:

• Main text

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: JAK2: V617I; rs77375493

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

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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: V617I

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.

Genes & Cancer

Jatiani, Shashidhar S SS; Baker, Stacey J SJ; Silverman, Lewis R LR; Reddy, E Premkumar EP

Publication Date: 2010-10

Variant appearance in text: JAK2: V617I

PubMed Link: 21442038

Variant Present in the following documents:

• Main text

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JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.

Plos One

Dusa, Alexandra A; Mouton, Céline C; Pecquet, Christian C; Herman, Murielle M; Constantinescu, Stefan N SN

Publication Date: 2010-06-16

Variant appearance in text: JAK2: V617I

PubMed Link: 20585391

Variant Present in the following documents:

• Main text
• pone.0011157.pdf

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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: V617I

PubMed Link: 19744331

Variant Present in the following documents:

• Main text
• 1472-6807-9-58.pdf

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A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation.

The Journal Of Biological Chemistry

Zhao, Lequn L; Dong, Hongyun H; Zhang, Cheng Cheng CC; Kinch, Lisa L; Osawa, Mitsujiro M; Iacovino, Michelina M; Grishin, Nikolai V NV; Kyba, Michael M; Huang, Lily Jun-shen LJ

Publication Date: 2009-09-25

Variant appearance in text: JAK2: V617I

PubMed Link: 19638629

Variant Present in the following documents:

• Main text

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