Publications:

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Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Genes

Maaziz, Nada N; Garrec, Céline C; Airaud, Fabrice F; Bobée, Victor V; Contentin, Nathalie N; Cayssials, Emilie E; Rimbert, Antoine A; Aral, Bernard B; Bézieau, Stéphane S; Gardie, Betty B; Girodon, François F

Publication Date: 2023-05-11

Variant appearance in text: JAK2: G571S

PubMed Link: 37239426

Variant Present in the following documents:

• Main text
• genes-14-01066.pdf

View BVdb publication page

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: JAK2: 1711G>A; Gly571Ser; rs139504737

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery

Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J

Publication Date: 2023-02-08

Variant appearance in text: JAK2: G571S

PubMed Link: 36751942

Variant Present in the following documents:

• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: JAK2: 1711G>A; G571S; rs139504737

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?

Frontiers In Oncology

Cumbo, Cosimo C; Tarantini, Francesco F; Zagaria, Antonella A; Anelli, Luisa L; Minervini, Crescenzio Francesco CF; Coccaro, Nicoletta N; Tota, Giuseppina G; Impera, Luciana L; Parciante, Elisa E; Conserva, Maria Rosa MR; Redavid, Immacolata I; Carluccio, Paola P; Delia, Mario M; Giordano, Annamaria A; Longo, Maria Chiara MC; Perrone, Tommasina T; Rossi, Antonella Russo AR; Specchia, Giorgina G; Musto, Pellegrino P; Albano, Francesco F

Publication Date: 2022

Variant appearance in text: JAK2: Gly571Ser; rs139504737

PubMed Link: 35494055

Variant Present in the following documents:

• Main text
• fonc-12-873896.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: G571S

PubMed Link: 35456443

Variant Present in the following documents:

• Main text
• genes-13-00637.pdf

View BVdb publication page

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NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.

Genes

Jalowiec, Katarzyna Aleksandra KA; Vrotniakaite-Bajerciene, Kristina K; Capraru, Annina A; Wojtovicova, Tatiana T; Joncourt, Raphael R; Rovó, Alicia A; Porret, Naomi A NA

Publication Date: 2021-12-04

Variant appearance in text: JAK2: 1711G>A; G571S; rs139504737

PubMed Link: 34946900

Variant Present in the following documents:

• Main text
• genes-12-01951.pdf

View BVdb publication page

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NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.

Genes

Jalowiec, Katarzyna Aleksandra KA; Vrotniakaite-Bajerciene, Kristina K; Capraru, Annina A; Wojtovicova, Tatiana T; Joncourt, Raphael R; Rovó, Alicia A; Porret, Naomi A NA

Publication Date: 2021-12-04

Variant appearance in text: JAK2: 1711G>A; G571S; rs139504737

PubMed Link: 34946900

Variant Present in the following documents:

• Main text
• genes-12-01951.pdf

View BVdb publication page

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Cell-Free Total Nucleic Acid-Based Genotyping of Aggressive Lymphoma: Comprehensive Analysis of Gene Fusions and Nucleotide Variants by Next-Generation Sequencing.

Cancers

Mokánszki, Attila A; Bicskó, Réka R; Gergely, Lajos L; Méhes, Gábor G

Publication Date: 2021-06-17

Variant appearance in text: JAK2: 1711G>A

PubMed Link: 34204385

Variant Present in the following documents:

• cancers-13-03032.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: JAK2: G571S

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_Article_878.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: JAK2: G571S

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_Article_878.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: JAK2: G571S; rs139504737

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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: G571S

PubMed Link: 33712866

Variant Present in the following documents:

• Main text
• 277_2021_Article_4485.pdf

View BVdb publication page

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STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma.

Leukemia

Lobello, Cosimo C; Tichy, Boris B; Bystry, Vojtech V; Radova, Lenka L; Filip, Daniel D; Mraz, Marek M; Montes-Mojarro, Ivonne-Aidee IA; Prokoph, Nina N; Larose, Hugo H; Liang, Huan-Chang HC; Sharma, Geeta G GG; Mologni, Luca L; Belada, David D; Kamaradova, Katerina K; Fend, Falko F; Gambacorti-Passerini, Carlo C; Merkel, Olaf O; Turner, Suzanne D SD; Janikova, Andrea A; Pospisilova, Sarka S

Publication Date: 2021-05

Variant appearance in text: JAK2: 1711G>A; G571S; rs139504737

PubMed Link: 33247178

Variant Present in the following documents:

• 41375_2020_1093_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Sarcoma as Second Cancer in a Childhood Cancer Survivor: Case Report, Large Population Analysis and Literature Review.

Medicina (Kaunas, Lithuania)

Nguyen, Thinh H TH; Makena, Monish Ram MR; Yavvari, Siddhartha S; Kaur, Maninder M; Pham, Teresia T; Urias, Eduardo E; Panapitiya, Narendra N; Al-Rahawan, Mohamad M MM

Publication Date: 2020-05-07

Variant appearance in text: JAK2: G571S

PubMed Link: 32392854

Variant Present in the following documents:

• Main text
• medicina-56-00224.pdf

View BVdb publication page

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Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.

Haematologica

Ouseph, Madhu M MM; Hasserjian, Robert P RP; Dal Cin, Paola P; Lovitch, Scott B SB; Steensma, David P DP; Nardi, Valentina V; Weinberg, Olga K OK

Publication Date: 2021-02-01

Variant appearance in text: JAK2: 1711G>A; G571S

PubMed Link: 32193254

Variant Present in the following documents:

• 2019_240689_OUSEPH_SUPPL.pdf

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: JAK2: 1711G>A; G571S

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: JAK2: G571S

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 13

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: JAK2: 1711G>A; Gly571Ser

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility.

Leukemia

Lin, Minhui M; Nebral, Karin K; Gertzen, Christoph G W CGW; Ganmore, Ithamar I; Haas, Oskar A OA; Bhatia, Sanil S; Fischer, Ute U; Kuhlen, Michaela M; Gohlke, Holger H; Izraeli, Shai S; Trka, Jan J; Hu, Jianda J; Borkhardt, Arndt A; Hauer, Julia J; Auer, Franziska F

Publication Date: 2019-09

Variant appearance in text: JAK2: G571S; rs139504737

PubMed Link: 30967616

Variant Present in the following documents:

• Main text
• 41375_2019_Article_459.pdf

View BVdb publication page

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Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework.

Frontiers In Immunology

Haas, Oskar A OA

Publication Date: 2018

Variant appearance in text: JAK2: G571S

PubMed Link: 30809233

Variant Present in the following documents:

• Main text
• fimmu-09-03136.pdf

View BVdb publication page

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Functional genomic landscape of acute myeloid leukaemia.

Nature

Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ

Publication Date: 2018-10

Variant appearance in text: JAK2: 1711G>A; Gly571Ser; rs139504737

PubMed Link: 30333627

Variant Present in the following documents:

• NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16
• NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 7

View BVdb publication page

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Myelodysplastic Syndrome/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis.

Case Reports In Hematology

Langabeer, Stephen E SE; Conneally, Eibhlin E; Flynn, Catherine M CM

Publication Date: 2018

Variant appearance in text: JAK2: G571S

PubMed Link: 29682367

Variant Present in the following documents:

• CRIHEM2018-4378310.pdf

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: G571S

PubMed Link: 29567786

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: JAK2: 1711G>A; G571S; rs139504737

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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JAK2 exon 12 mutation-positive myeloproliferative neoplasm associated with recurrent thromboembolism.

Blood Research

Tavakoli, Vahid V; Naing, Sundee S

Publication Date: 2017-03

Variant appearance in text: JAK2: G571S

PubMed Link: 28401106

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of the Exon 13 G571S JAK2 mutation in myeloproliferative neoplasms.

Leukemia Research Reports

Bahar, Burak B; Barton, Kevin K; Kini, Ameet R AR

Publication Date: 2016

Variant appearance in text: JAK2: G571S

PubMed Link: 27924280

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: JAK2: 1711G>A; G571S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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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: JAK2: 1711G>A; G571S; rs139504737

PubMed Link: 27060149

Variant Present in the following documents:

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

View BVdb publication page

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Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.

Blood

Milosevic Feenstra, Jelena D JD; Nivarthi, Harini H; Gisslinger, Heinz H; Leroy, Emilie E; Rumi, Elisa E; Chachoua, Ilyas I; Bagienski, Klaudia K; Kubesova, Blanka B; Pietra, Daniela D; Gisslinger, Bettina B; Milanesi, Chiara C; Jäger, Roland R; Chen, Doris D; Berg, Tiina T; Schalling, Martin M; Schuster, Michael M; Bock, Christoph C; Constantinescu, Stefan N SN; Cazzola, Mario M; Kralovics, Robert R

Publication Date: 2016-01-21

Variant appearance in text: JAK2: G571S

PubMed Link: 26423830

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: JAK2: 1711G>A; G571S; rs139504737

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: JAK2: G571S

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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A targeted mutational landscape of angioimmunoblastic T-cell lymphoma.

Blood

Odejide, Oreofe O; Weigert, Oliver O; Lane, Andrew A AA; Toscano, Dan D; Lunning, Matthew A MA; Kopp, Nadja N; Kim, Sunhee S; van Bodegom, Diederik D; Bolla, Sudha S; Schatz, Jonathan H JH; Teruya-Feldstein, Julie J; Hochberg, Ephraim E; Louissaint, Abner A; Dorfman, David D; Stevenson, Kristen K; Rodig, Scott J SJ; Piccaluga, Pier Paolo PP; Jacobsen, Eric E; Pileri, Stefano A SA; Harris, Nancy L NL; Ferrero, Simone S; Inghirami, Giorgio G; Horwitz, Steven M SM; Weinstock, David M DM

Publication Date: 2014-02-27

Variant appearance in text: JAK2: G571S

PubMed Link: 24345752

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: rs139504737

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: JAK2: G571S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Nature Genetics

Rivas, Manuel A MA; Beaudoin, Mélissa M; Gardet, Agnes A; Stevens, Christine C; Sharma, Yashoda Y; Zhang, Clarence K CK; Boucher, Gabrielle G; Ripke, Stephan S; Ellinghaus, David D; Burtt, Noel N; Fennell, Tim T; Kirby, Andrew A; Latiano, Anna A; Goyette, Philippe P; Green, Todd T; Halfvarson, Jonas J; Haritunians, Talin T; Korn, Joshua M JM; Kuruvilla, Finny F; Lagacé, Caroline C; Neale, Benjamin B; Lo, Ken Sin KS; Schumm, Phil P; Törkvist, Leif L; , ; , ; , ; Dubinsky, Marla C MC; Brant, Steven R SR; Silverberg, Mark S MS; Duerr, Richard H RH; Altshuler, David D; Gabriel, Stacey S; Lettre, Guillaume G; Franke, Andre A; D'Amato, Mauro M; McGovern, Dermot P B DP; Cho, Judy H JH; Rioux, John D JD; Xavier, Ramnik J RJ; Daly, Mark J MJ

Publication Date: 2011-10-09

Variant appearance in text: JAK2: Gly571Ser

PubMed Link: 21983784

Variant Present in the following documents:

• NIHMS335188-supplement-1.pdf

View BVdb publication page

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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: G571S

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: G571S

PubMed Link: 21442038

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: G571S

PubMed Link: 19074595

Variant Present in the following documents:

• Main text

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