Publications:

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Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer.

Nature Communications

Shi, Wenhao W; Wang, Yushen Y; Xu, Chen C; Li, Yan Y; Ge, Sai S; Bai, Bin B; Zhang, Kecheng K; Wang, Yunzhi Y; Zheng, Nairen N; Wang, Juan J; Wang, Shiqi S; Ji, Gang G; Li, Jipeng J; Nie, Yongzhan Y; Liang, Wenquan W; Wu, Xiaosong X; Cui, Jianxin J; Wang, Yi Y; Chen, Lin L; Zhao, Qingchuan Q; Shen, Lin L; He, Fuchu F; Qin, Jun J; Ding, Chen C

Publication Date: 2023-02-14

Variant appearance in text: DNMT3A: Arg181Cys

PubMed Link: 36788224

Variant Present in the following documents:

• 41467_2023_35797_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: DNMT3A: 541C>T; R181C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: DNMT3A: 541C>T; R181C

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Stem cell architecture drives myelodysplastic syndrome progression and predicts response to venetoclax-based therapy.

Nature Medicine

Ganan-Gomez, Irene I; Yang, Hui H; Ma, Feiyang F; Montalban-Bravo, Guillermo G; Thongon, Natthakan N; Marchica, Valentina V; Richard-Carpentier, Guillaume G; Chien, Kelly K; Manyam, Ganiraju G; Wang, Feng F; Alfonso, Ana A; Chen, Shuaitong S; Class, Caleb C; Kanagal-Shamanna, Rashmi R; Ingram, Justin P JP; Ogoti, Yamini Y; Rose, Ashley A; Loghavi, Sanam S; Lockyer, Pamela P; Cambo, Benedetta B; Muftuoglu, Muharrem M; Schneider, Sarah S; Adema, Vera V; McLellan, Michael M; Garza, John J; Marchesini, Matteo M; Giuliani, Nicola N; Pellegrini, Matteo M; Wang, Jing J; Walker, Jason J; Li, Ziyi Z; Takahashi, Koichi K; Leverson, Joel D JD; Bueso-Ramos, Carlos C; Andreeff, Michael M; Clise-Dwyer, Karen K; Garcia-Manero, Guillermo G; Colla, Simona S

Publication Date: 2022-03

Variant appearance in text: DNMT3A: R181C

PubMed Link: 35241842

Variant Present in the following documents:

• 41591_2022_1696_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure

Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA

Publication Date: 2021-06

Variant appearance in text: DNMT3A: 541C>T; R181C

PubMed Link: 33779075

Variant Present in the following documents:

• EHF2-8-1873-s002.xlsx, sheet 1

View BVdb publication page

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Patient-Derived Organoid Models of Human Neuroendocrine Carcinoma.

Frontiers In Endocrinology

Dijkstra, Krijn K KK; van den Berg, José G JG; Weeber, Fleur F; van de Haar, Joris J; Velds, Arno A; Kaing, Sovann S; Peters, Dennis D G C DDGC; Eskens, Ferry A L M FALM; de Groot, Derk-Jan A DA; Tesselaar, Margot E T MET; Voest, Emile E EE

Publication Date: 2021

Variant appearance in text: DNMT3A: 541C>T; Arg181Cys

PubMed Link: 33776923

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

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: Arg181Cys

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM10_ESM.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: 541C>T; Arg181Cys

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 8

View BVdb publication page

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Wellcome Open Research

Tatton-Brown, Katrina K; Zachariou, Anna A; Loveday, Chey C; Renwick, Anthony A; Mahamdallie, Shazia S; Aksglaede, Lise L; Baralle, Diana D; Barge-Schaapveld, Daniela D; Blyth, Moira M; Bouma, Mieke M; Breckpot, Jeroen J; Crabb, Beau B; Dabir, Tabib T; Cormier-Daire, Valerie V; Fauth, Christine C; Fisher, Richard R; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Hunter, Matthew M; Jorgensen, Agnete A; Kant, Sarina G SG; Kirally-Borri, Cathy C; Koolen, David D; Kumar, Ajith A; Labilloy, Anatalia A; Lees, Melissa M; Marcelis, Carlo C; Mercer, Catherine C; Mignot, Cyril C; Miller, Kathryn K; Neas, Katherine K; Newbury-Ecob, Ruth R; Pilz, Daniela T DT; Posmyk, Renata R; Prada, Carlos C; Ramsey, Keri K; Randolph, Linda M LM; Selicorni, Angelo A; Shears, Deborah D; Suri, Mohnish M; Temple, I Karen IK; Turnpenny, Peter P; Val Maldergem, Lionel L; Varghese, Vinod V; Veenstra-Knol, Hermine E HE; Yachelevich, Naomi N; Yates, Laura L; , ; , ; Rahman, Nazneen N

Publication Date: 2018

Variant appearance in text: DNMT3A: 541C>T; Arg181Cys

PubMed Link: 29900417

Variant Present in the following documents:

• Main text
• wellcomeopenres-3-15708.pdf

View BVdb publication page

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A proteomic landscape of diffuse-type gastric cancer.

Nature Communications

Ge, Sai S; Xia, Xia X; Ding, Chen C; Zhen, Bei B; Zhou, Quan Q; Feng, Jinwen J; Yuan, Jiajia J; Chen, Rui R; Li, Yumei Y; Ge, Zhongqi Z; Ji, Jiafu J; Zhang, Lianhai L; Wang, Jiayuan J; Li, Zhongwu Z; Lai, Yumei Y; Hu, Ying Y; Li, Yanyan Y; Li, Yilin Y; Gao, Jing J; Chen, Lin L; Xu, Jianming J; Zhang, Chunchao C; Jung, Sung Yun SY; Choi, Jong Min JM; Jain, Antrix A; Liu, Mingwei M; Song, Lei L; Liu, Wanlin W; Guo, Gaigai G; Gong, Tongqing T; Huang, Yin Y; Qiu, Yang Y; Huang, Wenwen W; Shi, Tieliu T; Zhu, Weimin W; Wang, Yi Y; He, Fuchu F; Shen, Lin L; Qin, Jun J

Publication Date: 2018-03-08

Variant appearance in text: DNMT3A: Arg181Cys

PubMed Link: 29520031

Variant Present in the following documents:

• 41467_2018_3121_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

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