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: 4494G>A; Trp1498Ter

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications

Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA

Publication Date: 2022-10

Variant appearance in text: ARID1A: 4494G>A; W1498*

PubMed Link: 36311816

Variant Present in the following documents:

• crc-22-0314-s02.xlsx, sheet 6

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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

View BVdb publication page

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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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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: ARID1A: 4494G>A; W1498*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: ARID1A: 4494G>A; W1498X

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 1
• Table_2.xls, sheet 2

View BVdb publication page

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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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