Publications:

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Somatic genetic alterations predict haematological progression in GATA2 deficiency.

Haematologica

Largeaud, Laetitia L; Collin, Matthew M; Monselet, Nils N; Vergez, Francois F; Fregona, Vincent V; Larcher, Lise L; Hirsch, Pierre P; Duployez, Nicolas N; Bidet, Audrey A; Luquet, Isabelle I; Bustamante, Jacinta J; Dufrechou, Stephanie S; Prade, Nais N; Nolla, Marie M; Hamelle, Camille C; Tavitian, Suzanne S; Habib, Christophe C; Meynier, Mateo M; Bellanne-Chantelot, Christine C; Donadieu, Jean J; De Fontbrune, Flore Sicre FS; Fieschi, Claire C; Ferster, Alina A; Delhommeau, Francois F; Delabesse, Eric E; Pasquet, Marlene M

Publication Date: 2023-02-02

Variant appearance in text: TET2: 4579C>T; Gln1527*

PubMed Link: 36727400

Variant Present in the following documents:

• 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx, sheet 1

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TET2: Q1527*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal

Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-07-04

Variant appearance in text: rs778915279

PubMed Link: 35788129

Variant Present in the following documents:

• 41408_2022_699_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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In-depth characterization of intratumoral heterogeneity in refractory B-cell non-Hodgkin lymphoma through the lens of a Research Autopsy Program.

Haematologica

Isaev, Keren K; Liu, Ting T; Bakhtiari, Mehran M; Tong, Kit K; Goswami, Rashmi R; Lam, Bernard B; Lungu, Ilinca I; Krzyzanowski, Paul M PM; Oza, Amit A; Dhani, Neesha N; Prica, Anca A; Crump, Michael M; Kridel, Robert R

Publication Date: 2022-06-23

Variant appearance in text: TET2: Q1527X

PubMed Link: 35734926

Variant Present in the following documents:

• 2022_280900_ISAEV_TABS3_SUPPL.xlsx, sheet 1
• 2022_280900_ISAEV_TABS4_SUPPL.xlsx, sheet 2

View BVdb publication page

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Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia

Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP

Publication Date: 2022-02

Variant appearance in text: TET2: Q1527X

PubMed Link: 34413458

Variant Present in the following documents:

• 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.

Cancers

Heibl, Sonja S; Gisslinger, Bettina B; Jäger, Eva E; Barna, Agnes A; Gurbisz, Michael M; Stegemann, Maike M; Bettelheim, Peter P; Machherndl-Spandl, Sigrid S; Pfeilstöcker, Michael M; Nösslinger, Thomas T; Uyanik, Gökhan G; Hoermann, Gregor G; Stauder, Reinhard R; Thaler, Josef J; Kusec, Rajko R; Valent, Peter P; Gisslinger, Heinz H; Geissler, Klaus K

Publication Date: 2020-07-14

Variant appearance in text: TET2: 4579C>T; Gln1527*

PubMed Link: 32674283

Variant Present in the following documents:

• cancers-12-01891-s001.pdf

View BVdb publication page

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The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Plos One

Ibáñez, Mariam M; Carbonell-Caballero, José J; Such, Esperanza E; García-Alonso, Luz L; Liquori, Alessandro A; López-Pavía, María M; Llop, Marta M; Alonso, Carmen C; Barragán, Eva E; Gómez-Seguí, Inés I; Neef, Alexander A; Hervás, David D; Montesinos, Pau P; Sanz, Guillermo G; Sanz, Miguel Angel MA; Dopazo, Joaquín J; Cervera, José J

Publication Date: 2018

Variant appearance in text: TET2: Gln1527Ter

PubMed Link: 30303964

Variant Present in the following documents:

• pone.0202926.s006.pdf

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: TET2: Q1527*

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes.

Oncotarget

Cedena, M Teresa MT; Rapado, Inmaculada I; Santos-Lozano, Alejandro A; Ayala, Rosa R; Onecha, Esther E; Abaigar, María M; Such, Esperanza E; Ramos, Fernando F; Cervera, José J; Díez-Campelo, María M; Sanz, Guillermo G; Rivas, Jesús Hernández JH; Lucía, Alejandro A; Martínez-López, Joaquin J

Publication Date: 2017-12-05

Variant appearance in text: TET2: 4579C>T; Gln1527Ter

PubMed Link: 29291002

Variant Present in the following documents:

• oncotarget-08-106948-s002.xls, sheet 1

View BVdb publication page

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