Publications:

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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: DNMT3A: P9=

PubMed Link: 36889320

Variant Present in the following documents:

• mmc4.pdf
• main.pdf

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: DNMT3A: P9P; rs41284843

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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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: DNMT3A: P9P; rs41284843

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: DNMT3A: P9P; rs41284843

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs41284843

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genetic rearrangements result in altered gene expression and novel fusion transcripts in Sézary syndrome.

Oncotarget

Iżykowska, Katarzyna K; Przybylski, Grzegorz K GK; Gand, Claudia C; Braun, Floriane C FC; Grabarczyk, Piotr P; Kuss, Andreas W AW; Olek-Hrab, Karolina K; Bastidas Torres, Armando N AN; Vermeer, Maarten H MH; Zoutman, Willem H WH; Tensen, Cornelis P CP; Schmidt, Christian A CA

Publication Date: 2017-06-13

Variant appearance in text: DNMT3A: P9=

PubMed Link: 28489605

Variant Present in the following documents:

• Main text
• oncotarget-08-39627.pdf

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: DNMT3A: Pro9=; rs41284843

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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Evaluation of DNMT3A genetic polymorphisms as outcome predictors in AML patients.

Oncotarget

Yuan, Xiao-Qing XQ; Zhang, Dao-Yu DY; Yan, Han H; Yang, Yong-Long YL; Zhu, Ke-Wei KW; Chen, Yan-Hong YH; Li, Xi X; Yin, Ji-Ye JY; Li, Xiao-Lin XL; Zeng, Hui H; Chen, Xiao-Ping XP

Publication Date: 2016-09-13

Variant appearance in text: rs41284843

PubMed Link: 27528035

Variant Present in the following documents:

• Main text
• oncotarget-07-60555.pdf

View BVdb publication page

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Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children.

Leukemia

Fu, R R; Liu, D D; Cao, Z Z; Zhu, S S; Li, H H; Su, H H; Zhang, L L; Xue, F F; Liu, X X; Zhang, X X; Cheng, T T; Yang, R R; Zhang, L L

Publication Date: 2016-03

Variant appearance in text: DNMT3A: P9P; rs41284843

PubMed Link: 26118316

Variant Present in the following documents:

• leu2015167x1.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: P9P; rs41284843

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Recurrent DNMT3A mutations in patients with myelodysplastic syndromes.

Leukemia

Walter, M J MJ; Ding, L L; Shen, D D; Shao, J J; Grillot, M M; McLellan, M M; Fulton, R R; Schmidt, H H; Kalicki-Veizer, J J; O'Laughlin, M M; Kandoth, C C; Baty, J J; Westervelt, P P; DiPersio, J F JF; Mardis, E R ER; Wilson, R K RK; Ley, T J TJ; Graubert, T A TA

Publication Date: 2011-07

Variant appearance in text: rs41284843

PubMed Link: 21415852

Variant Present in the following documents:

• Main text
• nihms271800.pdf

View BVdb publication page

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