Publications:

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A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology

,

Publication Date: 2022-11-24

Variant appearance in text: TET2: 2926C>T; Q976*

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.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: Q976*

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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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: TET2: Q976X

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics

Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M

Publication Date: 2021-12-14

Variant appearance in text: TET2: Q976*

PubMed Link: 34906245

Variant Present in the following documents:

• 40246_2021_371_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics

Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M

Publication Date: 2021-12-14

Variant appearance in text: TET2: Q976*

PubMed Link: 34906245

Variant Present in the following documents:

• 40246_2021_371_MOESM1_ESM.xlsx, sheet 5

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: Q976X

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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Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature

Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P

Publication Date: 2020-10

Variant appearance in text: TET2: Q976X

PubMed Link: 33057201

Variant Present in the following documents:

• NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4

View BVdb publication page

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Thrombotic Risk Detection in Patients with Polycythemia Vera: The Predictive Role of DNMT3A/TET2/ASXL1 Mutations.

Cancers

Segura-Díaz, Adrián A; Stuckey, Ruth R; Florido, Yanira Y; González-Martín, Jesús María JM; López-Rodríguez, Juan Francisco JF; Sánchez-Sosa, Santiago S; González-Pérez, Elena E; Sáez Perdomo, María Nieves MN; Perera, María Del Mar MDM; de la Iglesia, Silvia S; Molero-Labarta, Teresa T; Gómez-Casares, María Teresa MT; Bilbao-Sieyro, Cristina C

Publication Date: 2020-04-10

Variant appearance in text: TET2: 2926C>T; Q976*

PubMed Link: 32290079

Variant Present in the following documents:

• cancers-12-00934-s001.pdf

View BVdb publication page

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Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications

Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP

Publication Date: 2019-11-26

Variant appearance in text: TET2: Q976X

PubMed Link: 31772163

Variant Present in the following documents:

• 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders.

The Journal Of Experimental Medicine

Muto, Tomoya T; Sashida, Goro G; Oshima, Motohiko M; Wendt, George R GR; Mochizuki-Kashio, Makiko M; Nagata, Yasunobu Y; Sanada, Masashi M; Miyagi, Satoru S; Saraya, Atsunori A; Kamio, Asuka A; Nagae, Genta G; Nakaseko, Chiaki C; Yokote, Koutaro K; Shimoda, Kazuya K; Koseki, Haruhiko H; Suzuki, Yutaka Y; Sugano, Sumio S; Aburatani, Hiroyuki H; Ogawa, Seishi S; Iwama, Atsushi A

Publication Date: 2013-11-18

Variant appearance in text: TET2: Q976X

PubMed Link: 24218139

Variant Present in the following documents:

• supp_jem.20131144_JEM_20131144_sm.pdf

View BVdb publication page

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