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: 4404_4405del

PubMed Link: 35464843

Variant Present in the following documents:

• Main text
• fgene-13-848879.pdf

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Cell-free DNA sequencing as a potential screening tool for phase I targeted treatment in refractory/relapse diffuse large B-cell lymphoma.

Haematologica

Quivoron, Cyril C; Tarabay, Anthony A; Michot, Jean-Marie JM; Pagès, Arnaud A; Lecourt, Hélène H; Aupérin, Anne A; Danu, Alina A; Lazarovici, Julien J; Rossignol, Julien J; Ghez, David D; Dartigues, Peggy P; Vergé, Véronique V; Massard, Christophe C; Camara-Clayette, Valérie V; Ribrag, Vincent V; Sarkozy, Clémentine C

Publication Date: 2022-08-01

Variant appearance in text: CREBBP: 4404_4405delAG; G1469fs

PubMed Link: 35320922

Variant Present in the following documents:

• 2021_280464_QUIVORON_SUPPL.pdf

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: CREBBP: 4404_4405del

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page