Publications:

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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: C1464*

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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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: C1464X

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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Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Leukemia

Arindrarto, Wibowo W; Borràs, Daniel M DM; de Groen, Ruben A L RAL; van den Berg, Redmar R RR; Locher, Irene J IJ; van Diessen, Saskia A M E SAME; van der Holst, Rosalie R; van der Meijden, Edith D ED; Honders, M Willy MW; de Leeuw, Rick H RH; Verlaat, Wina W; Jedema, Inge I; Kroes, Wilma G M WGM; Knijnenburg, Jeroen J; van Wezel, Tom T; Vermaat, Joost S P JSP; Valk, Peter J M PJM; Janssen, Bart B; de Knijff, Peter P; van Bergen, Cornelis A M CAM; van den Akker, Erik B EB; Hoen, Peter A C 't PAC'; Kiełbasa, Szymon M SM; Laros, Jeroen F J JFJ; Griffioen, Marieke M; Veelken, Hendrik H

Publication Date: 2021-01

Variant appearance in text: TET2: 4392C>A; Cys1464Ter

PubMed Link: 32127641

Variant Present in the following documents:

• 41375_2020_762_MOESM1_ESM.pdf

View BVdb publication page

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Nature Communications

Rio-Machin, Ana A; Vulliamy, Tom T; Hug, Nele N; Walne, Amanda A; Tawana, Kiran K; Cardoso, Shirleny S; Ellison, Alicia A; Pontikos, Nikolas N; Wang, Jun J; Tummala, Hemanth H; Al Seraihi, Ahad Fahad H AFH; Alnajar, Jenna J; Bewicke-Copley, Findlay F; Armes, Hannah H; Barnett, Michael M; Bloor, Adrian A; Bödör, Csaba C; Bowen, David D; Fenaux, Pierre P; Green, Andrew A; Hallahan, Andrew A; Hjorth-Hansen, Henrik H; Hossain, Upal U; Killick, Sally S; Lawson, Sarah S; Layton, Mark M; Male, Alison M AM; Marsh, Judith J; Mehta, Priyanka P; Mous, Rogier R; Nomdedéu, Josep F JF; Owen, Carolyn C; Pavlu, Jiri J; Payne, Elspeth M EM; Protheroe, Rachel E RE; Preudhomme, Claude C; Pujol-Moix, Nuria N; Renneville, Aline A; Russell, Nigel N; Saggar, Anand A; Sciuccati, Gabriela G; Taussig, David D; Toze, Cynthia L CL; Uyttebroeck, Anne A; Vandenberghe, Peter P; Schlegelberger, Brigitte B; Ripperger, Tim T; Steinemann, Doris D; Wu, John J; Mason, Joanne J; Page, Paula P; Akiki, Susanna S; Reay, Kim K; Cavenagh, Jamie D JD; Plagnol, Vincent V; Caceres, Javier F JF; Fitzgibbon, Jude J; Dokal, Inderjeet I

Publication Date: 2020-02-25

Variant appearance in text: TET2: 4392C>A; Cys1464*

PubMed Link: 32098966

Variant Present in the following documents:

• 41467_2020_14829_MOESM13_ESM.xlsx, sheet 1
• 41467_2020_14829_MOESM8_ESM.xlsx, sheet 1
• 41467_2020_14829_MOESM11_ESM.xlsx, sheet 1

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: TET2: 4392C>A; Cys1464Ter

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5

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Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

Leukemia

Pellagatti, A A; Roy, S S; Di Genua, C C; Burns, A A; McGraw, K K; Valletta, S S; Larrayoz, M J MJ; Fernandez-Mercado, M M; Mason, J J; Killick, S S; Mecucci, C C; Calasanz, M J MJ; List, A A; Schuh, A A; Boultwood, J J

Publication Date: 2016-01

Variant appearance in text: TET2: C1464*

PubMed Link: 25991409

Variant Present in the following documents:

• leu2015129x2.xls, sheet 1

View BVdb publication page

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Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes.

Haematologica

Fernandez-Mercado, Marta M; Burns, Adam A; Pellagatti, Andrea A; Giagounidis, Aristoteles A; Germing, Ulrich U; Agirre, Xabier X; Prosper, Felipe F; Aul, Carlo C; Killick, Sally S; Wainscoat, James S JS; Schuh, Anna A; Boultwood, Jacqueline J

Publication Date: 2013-12

Variant appearance in text: TET2: C1464X

PubMed Link: 23831921

Variant Present in the following documents:

• Main text

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