Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: PC: 1153C>T

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Activation of RAS/MAPK pathway confers MCL-1 mediated acquired resistance to BCL-2 inhibitor venetoclax in acute myeloid leukemia.

Signal Transduction And Targeted Therapy

Zhang, Qi Q; Riley-Gillis, Bridget B; Han, Lina L; Jia, Yannan Y; Lodi, Alessia A; Zhang, Haijiao H; Ganesan, Saravanan S; Pan, Rongqing R; Konoplev, Sergej N SN; Sweeney, Shannon R SR; Ryan, Jeremy A JA; Jitkova, Yulia Y; Dunner, Kenneth K; Grosskurth, Shaun E SE; Vijay, Priyanka P; Ghosh, Sujana S; Lu, Charles C; Ma, Wencai W; Kurtz, Stephen S; Ruvolo, Vivian R VR; Ma, Helen H; Weng, Connie C CC; Ramage, Cassandra L CL; Baran, Natalia N; Shi, Ce C; Cai, Tianyu T; Davis, Richard Eric RE; Battula, Venkata L VL; Mi, Yingchang Y; Wang, Jing J; DiNardo, Courtney D CD; Andreeff, Michael M; Tyner, Jeffery W JW; Schimmer, Aaron A; Letai, Anthony A; Padua, Rose Ann RA; Bueso-Ramos, Carlos E CE; Tiziani, Stefano S; Leverson, Joel J; Popovic, Relja R; Konopleva, Marina M

Publication Date: 2022-02-21

Variant appearance in text: PC: 1153C>T; Arg385Trp

PubMed Link: 35185150

Variant Present in the following documents:

• 41392_2021_870_MOESM1_ESM.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: PC: R385C

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: PC: 1153C>T; R385C

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications

Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK

Publication Date: 2020-11-10

Variant appearance in text: PC: R385C

PubMed Link: 33172502

Variant Present in the following documents:

• 40478_2020_Article_1066.pdf

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: PC: R385C

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Nature Genetics

Alvarez, Mariano J MJ; Shen, Yao Y; Giorgi, Federico M FM; Lachmann, Alexander A; Ding, B Belinda BB; Ye, B Hilda BH; Califano, Andrea A

Publication Date: 2016-08

Variant appearance in text: PC: R385C

PubMed Link: 27322546

Variant Present in the following documents:

• NIHMS789775-supplement-1.pdf

View BVdb publication page

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