Publications:

Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant.

Frontiers In Genetics

Lee, Yu-Rong YR; Lin, Yu-Chen YC; Chang, Yi-Han YH; Huang, Hsin-Yu HY; Hong, Yi-Kai YK; Aala, Wilson Jr F WJF; Tu, Wei-Ting WT; Tsai, Meng-Che MC; Chou, Yen-Yin YY; Hsu, Chao-Kai CK

Publication Date: 2022

Variant appearance in text: CREBBP: 3649C>T

PubMed Link: 35464843

Variant Present in the following documents:

• Main text
• fgene-13-848879.pdf

View BVdb publication page

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: CREBBP: Gln1217*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page