Publications:

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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: DNMT3A: 1502A>G; N501S

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.xlsx, sheet 1

View BVdb publication page

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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: DNMT3A: 1502A>G; N501S

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: DNMT3A: 1502A>G; Asn501Ser

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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: DNMT3A: N501S

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM13_ESM.xlsx, sheet 3
• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM13_ESM.xlsx, sheet 4
• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia

Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE

Publication Date: 2021-09

Variant appearance in text: DNMT3A: N501S

PubMed Link: 33580203

Variant Present in the following documents:

• 41375_2021_1153_MOESM3_ESM.xlsx, sheet 2
• 41375_2021_1153_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Haematologica

Caprioli, Chiara C; Lussana, Federico F; Salmoiraghi, Silvia S; Cavagna, Roberta R; Buklijas, Ksenija K; Elidi, Lara L; Zanghi', Pamela P; Michelato, Anna A; Delaini, Federica F; Oldani, Elena E; Intermesoli, Tamara T; Grassi, Anna A; Gianfaldoni, Giacomo G; Mannelli, Francesco F; Ferrero, Dario D; Audisio, Ernesta E; Terruzzi, Elisabetta E; De Paoli, Lorella L; Cattaneo, Chiara C; Borlenghi, Erika E; Cavattoni, Irene I; Tajana, Monica M; Scattolin, Anna Maria AM; Mattei, Daniele D; Corradini, Paolo P; Campiotti, Leonardo L; Ciceri, Fabio F; Bernardi, Massimo M; Todisco, Elisabetta E; Cortelezzi, Agostino A; Falini, Brunangelo B; Pavoni, Chiara C; Bassan, Renato R; Spinelli, Orietta O; Rambaldi, Alessandro A

Publication Date: 2021-10-01

Variant appearance in text: DNMT3A: 1502A>G; Asn501Ser

PubMed Link: 32855275

Variant Present in the following documents:

• 2020_252825_CAPRIOLI_SUPPL.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: DNMT3A: 1502A>G; N501S; rs149738328

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM5_ESM.xls, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: DNMT3A: Asn501Ser

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: DNMT3A: 1502A>G; N501S; rs149738328

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Myeloid malignancies-related somatic mutations in aging individuals.

Molecular Genetics & Genomic Medicine

Coutinho, Diego F DF; Zalcberg, Ilana R IR; Monte-Mór, Bárbara C R BCR

Publication Date: 2019-06

Variant appearance in text: DNMT3A: N501S; rs149738328

PubMed Link: 31006989

Variant Present in the following documents:

• MGG3-7-e683-s002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: rs149738328

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.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: DNMT3A: 1502A>G; Asn501Ser; rs149738328

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s3.xlsx, sheet 3

View BVdb publication page

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MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.

Leukemia

L Abbate, Alberto A; Tolomeo, Doron D; Cifola, Ingrid I; Severgnini, Marco M; Turchiano, Antonella A; Augello, Bartolomeo B; Squeo, Gabriella G; D Addabbo, Pietro P; Traversa, Debora D; Daniele, Giulia G; Lonoce, Angelo A; Pafundi, Mariella M; Carella, Massimo M; Palumbo, Orazio O; Dolnik, Anna A; Muehlematter, Dominique D; Schoumans, Jacqueline J; Van Roy, Nadine N; De Bellis, Gianluca G; Martinelli, Giovanni G; Merla, Giuseppe G; Bullinger, Lars L; Haferlach, Claudia C; Storlazzi, Clelia Tiziana CT

Publication Date: 2018-10

Variant appearance in text: DNMT3A: N501S

PubMed Link: 29467491

Variant Present in the following documents:

• 41375_2018_33_MOESM11_ESM.xlsx, sheet 1

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: DNMT3A: 1502A>G; N501S; rs149738328

PubMed Link: 29245897

Variant Present in the following documents:

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

View BVdb publication page

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Development of a robust DNA quality and quantity assessment qPCR assay for targeted next-generation sequencing library preparation.

International Journal Of Oncology

Dang, Jennifer J; Mendez, Pedro P; Lee, Sharon S; Kim, James W JW; Yoon, Jun-Hee JH; Kim, Thomas W TW; Sailey, Charles J CJ; Jablons, David M DM; Kim, Il-Jin IJ

Publication Date: 2016-10

Variant appearance in text: DNMT3A: 1502A>G; N501S

PubMed Link: 27511764

Variant Present in the following documents:

• Main text
• ijo-49-04-1755.pdf

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: DNMT3A: N501S

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: DNMT3A: N501S; rs149738328

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Thescientificworldjournal

Gemovic, Branislava B; Perovic, Vladimir V; Glisic, Sanja S; Veljkovic, Nevena N

Publication Date: 2013

Variant appearance in text: DNMT3A: N501S

PubMed Link: 24348198

Variant Present in the following documents:

• 948617.f1.pdf

View BVdb publication page

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