Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: ARID1A: 1016_1030del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: ARID1A: 1015_1029del

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine

Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H

Publication Date: 2021-12

Variant appearance in text: ARID1A: 1015_1029del

PubMed Link: 34779146

Variant Present in the following documents:

• CAM4-10-8581-s002.xlsx, sheet 1

View BVdb publication page

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TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine

Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H

Publication Date: 2021-12

Variant appearance in text: ARID1A: 1015_1029del

PubMed Link: 34779146

Variant Present in the following documents:

• CAM4-10-8581-s002.xlsx, sheet 1

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: ARID1A: Ala339_Ala343del

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Molecular Psychiatry

Eising, Else E; Carrion-Castillo, Amaia A; Vino, Arianna A; Strand, Edythe A EA; Jakielski, Kathy J KJ; Scerri, Thomas S TS; Hildebrand, Michael S MS; Webster, Richard R; Ma, Alan A; Mazoyer, Bernard B; Francks, Clyde C; Bahlo, Melanie M; Scheffer, Ingrid E IE; Morgan, Angela T AT; Shriberg, Lawrence D LD; Fisher, Simon E SE

Publication Date: 2019-07

Variant appearance in text: ARID1A: 1029_1043del; Ala345_Ala349del

PubMed Link: 29463886

Variant Present in the following documents:

• Main text
• 41380_2018_20_MOESM1_ESM.pdf
• 41380_2018_Article_20.pdf

View BVdb publication page

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