Publications:

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: CREBBP: Q948X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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Benign and malignant tumors in Rubinstein-Taybi syndrome.

American Journal Of Medical Genetics. Part A

Boot, Max V MV; van Belzen, Martine J MJ; Overbeek, Lucy I LI; Hijmering, Nathalie N; Mendeville, Matias M; Waisfisz, Quinten Q; Wesseling, Pieter P; Hennekam, Raoul C RC; de Jong, Daphne D

Publication Date: 2018-03

Variant appearance in text: CREBBP: 2842C>T

PubMed Link: 29359884

Variant Present in the following documents:

• Main text
• AJMG-176-597.pdf

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Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

International Journal Of Molecular Sciences

Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N

Publication Date: 2015-03-11

Variant appearance in text: CREBBP: 2842C>T; Gln948X

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

View BVdb publication page