Publications:

Case report: olaparib use in metastatic lung adenocarcinoma with BRCA2 pathogenic variant.

Cold Spring Harbor Molecular Case Studies

Soon Jian Hao, Jonathan J; Hoai, Chan Sock CS; Weng, Daniel Tan Shao DTS; Ngeow, Joanne J; Chiang, Jianbang J

Publication Date: 2022-12

Variant appearance in text: CREBBP: 2239A>G; Met747Val

PubMed Link: 36577523

Variant Present in the following documents:

• Main text
• MCS006223Soo.pdf

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: CREBBP: 2239A>G; M747V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Outcomes of allogeneic hematopoietic cell transplantation in adults with fusions associated with Ph-like ALL.

Blood Advances

Aldoss, Ibrahim I; Yang, Dongyun D; Tomasian, Vanina V; Mokhtari, Sally S; Jackson, Ryan R; Gu, Zhaohui Z; Telatar, Milhan M; Yew, Hooi H; Al Malki, Monzr M MM; Salhotra, Amandeep A; Khaled, Samer S; Ali, Haris H; Aribi, Ahmed A; Sandhu, Karamjeet S KS; Mei, Matthew M; Arslan, Shukaib S; Koller, Paul P; Artz, Andrew A; Aoun, Patricia P; Gu, Dongqing D; Snyder, David D; Stewart, Forrest M FM; Curtin, Peter P; Stein, Anthony S AS; Pillai, Raju R; Marcucci, Guido G; Forman, Stephen J SJ; Pullarkat, Vinod V; Nakamura, Ryotaro R; Afkhami, Michelle M

Publication Date: 2022-09-13

Variant appearance in text: CREBBP: 2239A>G; M747V

PubMed Link: 35816633

Variant Present in the following documents:

• advancesADV2022007597-suppl1.xlsx, sheet 1

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Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis.

Case Reports In Oncology

Castro, Michael M; Vierkoetter, Koah K; Prager, Douglas D; Montgomery, Shasta S; Sedgwick, Kristin K

Publication Date: 2016

Variant appearance in text: CREBBP: M747V

PubMed Link: 27721756

Variant Present in the following documents:

• Main text
• cro-0009-0387.pdf

View BVdb publication page