Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: TET2: P363L

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Detection and targeting of splicing deregulation in pediatric acute myeloid leukemia stem cells.

Cell Reports. Medicine

van der Werf, Inge I; Mondala, Phoebe K PK; Steel, S Kathleen SK; Balaian, Larisa L; Ladel, Luisa L; Mason, Cayla N CN; Diep, Raymond H RH; Pham, Jessica J; Cloos, Jacqueline J; Kaspers, Gertjan J L GJL; Chan, Warren C WC; Mark, Adam A; La Clair, James J JJ; Wentworth, Peggy P; Fisch, Kathleen M KM; Crews, Leslie A LA; Whisenant, Thomas C TC; Burkart, Michael D MD; Donohoe, Mary E ME; Jamieson, Catriona H M CHM

Publication Date: 2023-03-02

Variant appearance in text: TET2: P363L

PubMed Link: 36889320

Variant Present in the following documents:

• main.pdf
• mmc4.pdf

View BVdb publication page

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Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.

Journal Of Experimental & Clinical Cancer Research : Cr

Mendogni, Paolo P; Affatato, Roberta R; Cabri, Enrico E; Chiappa, Michela M; Ndembe, Gloriana G; Tosi, Davide D; Del Gobbo, Alessandro A; Fratelli, Maddalena M; Pardini, Eleonora E; Petrini, Iacopo I; Rosso, Lorenzo L; Broggini, Massimo M; Marabese, Mirko M

Publication Date: 2022-12-14

Variant appearance in text: TET2: P363L

PubMed Link: 36517829

Variant Present in the following documents:

• 13046_2022_2554_MOESM1_ESM.xlsx, sheet 6
• 13046_2022_2554_MOESM1_ESM.xlsx, sheet 3
• 13046_2022_2554_MOESM1_ESM.xlsx, sheet 5
• 13046_2022_2554_MOESM1_ESM.xlsx, sheet 4
• 13046_2022_2554_MOESM1_ESM.xlsx, sheet 2
• 13046_2022_Article_2554.pdf

View BVdb publication page

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Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.

Human Genomics

Lee, Ning Yuan NY; Hum, Melissa M; Amali, Aseervatham Anusha AA; Lim, Wei Kiat WK; Wong, Matthew M; Myint, Matthew Khine MK; Tay, Ru Jin RJ; Ong, Pei-Yi PY; Samol, Jens J; Lim, Chia Wei CW; Ang, Peter P; Tan, Min-Han MH; Lee, Soo-Chin SC; Lee, Ann S G ASG

Publication Date: 2022-11-23

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 36424660

Variant Present in the following documents:

• Main text
• 40246_2022_Article_435.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Bmc Cancer

Wu, Xia X; Deng, Jili J; Zhang, Nanchen N; Liu, Xiaoyan X; Zheng, Xue X; Yan, Tianyou T; Ye, Wu W; Gong, Yuping Y

Publication Date: 2022-03-12

Variant appearance in text: TET2: 1088C>T; P363L; rs17253672

PubMed Link: 35279121

Variant Present in the following documents:

• 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: TET2: 1088C>T; P363L; rs17253672

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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TET2 and DNMT3A mutations and exceptional response to 4'-thio-2'-deoxycytidine in human solid tumor models.

Journal Of Hematology & Oncology

Yang, Sherry X SX; Hollingshead, Melinda M; Rubinstein, Larry L; Nguyen, Dat D; Larenjeira, Angelo B A ABA; Kinders, Robert J RJ; Difilippantonio, Michael M; Doroshow, James H JH

Publication Date: 2021-05-26

Variant appearance in text: TET2: P363L

PubMed Link: 34039392

Variant Present in the following documents:

• Main text
• 13045_2021_Article_1091.pdf

View BVdb publication page

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Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Frontiers In Oncology

Cattaneo, Daniele D; Croci, Giorgio Alberto GA; Bucelli, Cristina C; Tabano, Silvia S; Cannone, Marta Giulia MG; Gaudioso, Gabriella G; Barbanti, Maria Chiara MC; Barbullushi, Kordelia K; Bianchi, Paola P; Fermo, Elisa E; Fabris, Sonia S; Baldini, Luca L; Gianelli, Umberto U; Iurlo, Alessandra A

Publication Date: 2021

Variant appearance in text: TET2: 1088C>T; P363L; rs17253672

PubMed Link: 33791220

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan.

Peerj

Shaikh, Abdul Rehman Khalil ARK; Ujjan, Ikram I; Irfan, Muhammad M; Naz, Arshi A; Shamsi, Tahir T; Khan, Muhammad Tariq Masood MTM; Shakeel, Muhammad M

Publication Date: 2021

Variant appearance in text: rs17253672

PubMed Link: 33643703

Variant Present in the following documents:

• Main text
• peerj-09-10678.pdf

View BVdb publication page

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Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.

Molecular Oncology

Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR

Publication Date: 2021-02

Variant appearance in text: TET2: P363L

PubMed Link: 33169510

Variant Present in the following documents:

• MOL2-15-381-s009.xlsx, sheet 1

View BVdb publication page

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First Report of Sorafenib in Patients With Acute Myeloid Leukemia Harboring Non-Canonical FLT3 Mutations.

Frontiers In Oncology

Daver, Naval N; Price, Allyson A; Benton, Christopher B CB; Patel, Keyur K; Zhang, Weiguo W; Konopleva, Marina M; Pemmaraju, Naveen N; Takahashi, Koichi K; Andreeff, Michael M; Borthakur, Gautam G

Publication Date: 2020

Variant appearance in text: TET2: P363L

PubMed Link: 32984009

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kevetrin induces apoptosis in TP53 wild‑type and mutant acute myeloid leukemia cells.

Oncology Reports

Napolitano, Roberta R; De Matteis, Serena S; Carloni, Silvia S; Bruno, Samantha S; Abbati, Giulia G; Capelli, Laura L; Ghetti, Martina M; Bochicchio, Maria Teresa MT; Liverani, Chiara C; Mercatali, Laura L; Calistri, Daniele D; Cuneo, Antonio A; Menon, Krishna K; Musuraca, Gerardo G; Martinelli, Giovanni G; Simonetti, Giorgia G

Publication Date: 2020-10

Variant appearance in text: TET2: 1088C>T; Pro363Leu

PubMed Link: 32945487

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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Co-occurrence of PML-RARA gene fusion, chromosome 8 trisomy, and FLT3 ITD mutation in a young female patient with de novo acute myeloid leukemia and early death: A CARE case report.

Medicine

Tripon, Florin F; Crauciuc, George Andrei GA; Bogliş, Alina A; Moldovan, Valeriu V; Sándor-Kéri, Johanna J; Benedek, István Jr IJ; Trifa, Adrian Pavel AP; Bănescu, Claudia C

Publication Date: 2020-04

Variant appearance in text: TET2: 1088C>T; rs17253672

PubMed Link: 32243411

Variant Present in the following documents:

• Main text
• medi-99-e19730.pdf

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: TET2: 1088C>T; P363L; rs17253672

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM8_ESM.xls, sheet 1
• 12920_2020_668_MOESM5_ESM.xls, sheet 1
• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM6_ESM.xls, sheet 1

View BVdb publication page

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Features of non-activation dendritic state and immune deficiency in blastic plasmacytoid dendritic cell neoplasm (BPDCN).

Blood Cancer Journal

Beird, Hannah C HC; Khan, Maliha M; Wang, Feng F; Alfayez, Mansour M; Cai, Tianyu T; Zhao, Li L; Khoury, Joseph J; Futreal, P Andrew PA; Konopleva, Marina M; Pemmaraju, Naveen N

Publication Date: 2019-12-06

Variant appearance in text: rs17253672

PubMed Link: 31811114

Variant Present in the following documents:

• 41408_2019_262_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH).

Experimental Hematology & Oncology

Lobry, Camille C; Bains, Ashish A; Zamechek, Leah B LB; Ibrahim, Sherif S; Aifantis, Iannis I; Araten, David J DJ

Publication Date: 2019

Variant appearance in text: TET2: 1088C>T; P363L

PubMed Link: 31453016

Variant Present in the following documents:

• Main text
• 40164_2019_Article_142.pdf

View BVdb publication page

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The 45th Annual Meeting of the European Society for Blood and Marrow Transplantation: Physicians - Poster Session.

Bone Marrow Transplantation

Publication Date: 2019-07

Variant appearance in text: TET2: P363L

PubMed Link: 31270396

Variant Present in the following documents:

• Main text

View BVdb publication page

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TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine

Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P

Publication Date: 2019-07

Variant appearance in text: TET2: 1088C>T; Pro363Leu; rs17253672

PubMed Link: 31187595

Variant Present in the following documents:

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Nature Communications

Kaasinen, Eevi E; Kuismin, Outi O; Rajamäki, Kristiina K; Ristolainen, Heikki H; Aavikko, Mervi M; Kondelin, Johanna J; Saarinen, Silva S; Berta, Davide G DG; Katainen, Riku R; Hirvonen, Elina A M EAM; Karhu, Auli A; Taira, Aurora A; Tanskanen, Tomas T; Alkodsi, Amjad A; Taipale, Minna M; Morgunova, Ekaterina E; Franssila, Kaarle K; Lehtonen, Rainer R; Mäkinen, Markus M; Aittomäki, Kristiina K; Palotie, Aarno A; Kurki, Mitja I MI; Pietiläinen, Olli O; Hilpert, Morgane M; Saarentaus, Elmo E; Niinimäki, Jaakko J; Junttila, Juhani J; Kaikkonen, Kari K; Vahteristo, Pia P; Skoda, Radek C RC; Seppänen, Mikko R J MRJ; Eklund, Kari K KK; Taipale, Jussi J; Kilpivaara, Outi O; Aaltonen, Lauri A LA

Publication Date: 2019-03-19

Variant appearance in text: TET2: Pro363Leu; rs17253672

PubMed Link: 30890702

Variant Present in the following documents:

• Main text
• 41467_2019_Article_9198.pdf

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Tumorigenicity-associated characteristics of human iPS cell lines.

Plos One

Yasuda, Satoshi S; Kusakawa, Shinji S; Kuroda, Takuya T; Miura, Takumi T; Tano, Keiko K; Takada, Nozomi N; Matsuyama, Satoko S; Matsuyama, Akifumi A; Nasu, Michiyo M; Umezawa, Akihiro A; Hayakawa, Takao T; Tsutsumi, Hideki H; Sato, Yoji Y

Publication Date: 2018

Variant appearance in text: TET2: P363L

PubMed Link: 30286143

Variant Present in the following documents:

• pone.0205022.s007.xlsx, sheet 1

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TET2: 1088C>T; Pro363Leu; rs17253672

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 3
• bty518_supplementary_data_s3.xlsx, sheet 3
• bty518_supplementary_data_s1.xlsx, sheet 3
• bty518_supplementary_data_s2.xlsx, sheet 8
• bty518_supplementary_data_s4.xlsx, sheet 3
• bty518_supplementary_data_s3.xlsx, sheet 8
• bty518_supplementary_data_s7.xlsx, sheet 3
• bty518_supplementary_data_s5.xlsx, sheet 3

View BVdb publication page

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Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1
• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells.

Leukemia

Casado, Pedro P; Wilkes, Edmund H EH; Miraki-Moud, Farideh F; Hadi, Marym Mohammad MM; Rio-Machin, Ana A; Rajeeve, Vinothini V; Pike, Rebecca R; Iqbal, Sameena S; Marfa, Santiago S; Lea, Nicholas N; Best, Steven S; Gribben, John J; Fitzgibbon, Jude J; Cutillas, Pedro R PR

Publication Date: 2018-08

Variant appearance in text: TET2: Pro363Leu; rs17253672

PubMed Link: 29626197

Variant Present in the following documents:

• 41375_2018_32_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: TET2: 1088C>T; Pro363Leu; rs17253672

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: TET2: 1088C>T; P363L; rs17253672

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1
• ncomms12475-s3.xlsx, sheet 1

View BVdb publication page

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Low Ten-eleven-translocation 2 (TET2) transcript level is independent of TET2 mutation in patients with myeloid neoplasms.

Diagnostic Pathology

Scopim-Ribeiro, Renata R; Machado-Neto, João Agostinho JA; de Melo Campos, Paula P; Niemann, Fernanda Soares FS; Lorand-Metze, Irene I; Costa, Fernando Ferreira FF; Olalla Saad, Sara Teresinha ST; Traina, Fabiola F

Publication Date: 2016-03-16

Variant appearance in text: TET2: P363L

PubMed Link: 26984174

Variant Present in the following documents:

• Main text
• 13000_2016_Article_476.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs17253672

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetic Characterization of Ten-Eleven-Translocation Methylcytosine Dioxygenase Alterations in Human Glioma.

Journal Of Cancer

Kraus, Theo F J TF; Greiner, Andrea A; Steinmaurer, Martina M; Dietinger, Vanessa V; Guibourt, Virginie V; Kretzschmar, Hans A HA

Publication Date: 2015

Variant appearance in text: TET2: 1088C>T; P363L

PubMed Link: 26284134

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: TET2: P363L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.

Leukemia

Kutny, M A MA; Alonzo, T A TA; Gamazon, E R ER; Gerbing, R B RB; Geraghty, D D; Lange, B B; Heerema, N A NA; Sung, L L; Aplenc, R R; Franklin, J J; Raimondi, S C SC; Hirsch, B A BA; Konkashbaev, A A; Cox, N J NJ; Onel, K K; Gamis, A S AS; Meshinchi, S S

Publication Date: 2015-12

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 26126966

Variant Present in the following documents:

• NIHMS692629-supplement-1.pdf

View BVdb publication page

---

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

---

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: rs17253672

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

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: TET2: P363L; rs17253672

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: TET2: P363L; rs17253672

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1
• pone.0094554.s002.xlsx, sheet 3

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TET2 overexpression in chronic lymphocytic leukemia is unrelated to the presence of TET2 variations.

Biomed Research International

Hernández-Sánchez, María M; Rodríguez, Ana Eugenia AE; Kohlmann, Alexander A; Benito, Rocío R; García, Juan Luis JL; Risueño, Alberto A; Fermiñán, Encarna E; De Las Rivas, Javier J; González, Marcos M; Hernández-Rivas, Jesús-María JM

Publication Date: 2014

Variant appearance in text: TET2: Pro363Leu; rs17253672

PubMed Link: 24693539

Variant Present in the following documents:

• Main text
• BMRI2014-814294.pdf

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