Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: ARID1A: 4493G>A; Trp1498Ter

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: ARID1A: W1498X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: ARID1A: 4493G>A; W1498*

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: ARID1A: 4493G>A; W1498*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: N/A

PubMed Link: 33314633

Variant Present in the following documents:

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Multiomics profiling of primary lung cancers and distant metastases reveals immunosuppression as a common characteristic of tumor cells with metastatic plasticity.

Genome Biology

Lee, Won-Chul WC; Reuben, Alexandre A; Hu, Xin X; McGranahan, Nicholas N; Chen, Runzhe R; Jalali, Ali A; Negrao, Marcelo V MV; Hubert, Shawna M SM; Tang, Chad C; Wu, Chia-Chin CC; Lucas, Anthony San AS; Roh, Whijae W; Suda, Kenichi K; Kim, Jihye J; Tan, Aik-Choon AC; Peng, David H DH; Lu, Wei W; Tang, Ximing X; Chow, Chi-Wan CW; Fujimoto, Junya J; Behrens, Carmen C; Kalhor, Neda N; Fukumura, Kazutaka K; Coyle, Marcus M; Thornton, Rebecca R; Gumbs, Curtis C; Li, Jun J; Wu, Chang-Jiun CJ; Little, Latasha L; Roarty, Emily E; Song, Xingzhi X; Lee, J Jack JJ; Sulman, Erik P EP; Rao, Ganesh G; Swisher, Stephen S; Diao, Lixia L; Wang, Jing J; Heymach, John V JV; Huse, Jason T JT; Scheet, Paul P; Wistuba, Ignacio I II; Gibbons, Don L DL; Futreal, P Andrew PA; Zhang, Jianhua J; Gomez, Daniel D; Zhang, Jianjun J

Publication Date: 2020-11-04

Variant appearance in text: ARID1A: W1498X

PubMed Link: 33148332

Variant Present in the following documents:

• 13059_2020_2175_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Plos One

Polymeros, Konstantinos K; Guttery, David S DS; Hew, Roger R; Bishop, Rachael R; Stannard, Elizabeth E; Macip, Salvador S; Symonds, Paul P; Moss, Esther L EL

Publication Date: 2020

Variant appearance in text: ARID1A: 4493G>A; W1498*

PubMed Link: 32520976

Variant Present in the following documents:

• pone.0233900.s001.xlsx, sheet 1

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Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Karnezis, Anthony N AN; Hoang, Lien N LN; Coatham, Mackenzie M; Ravn, Sarah S; Almadani, Noorah N; Tessier-Cloutier, Basile B; Irving, Julie J; Meng, Bo B; Li, Xiaodong X; Chow, Christine C; McAlpine, Jessica J; Kuo, Kuan-Ting KT; Mao, Tsui-Lien TL; Djordjevic, Bojana B; Soslow, Robert A RA; Huntsman, David G DG; Blake Gilks, C C; Köbel, Martin M; Lee, Cheng-Han CH

Publication Date: 2016-03

Variant appearance in text: ARID1A: W1498X

PubMed Link: 26743474

Variant Present in the following documents:

• Main text

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