Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CREBBP: 1062dup; Gln355fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CREBBP: Q355Tfs*12

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Molecular Genetics & Genomic Medicine

Yu, Sha S; Wu, Bingbing B; Qian, Yanyan Y; Zhang, Ping P; Lu, Yulan Y; Dong, Xinran X; Wang, Qing Q; Zhao, Xuemei X; Liu, Renchao R; Zhou, Wenhao W; Wang, Huijun H

Publication Date: 2019-12

Variant appearance in text: CREBBP: 1062dupA

PubMed Link: 31637876

Variant Present in the following documents:

• Main text
• MGG3-7-e1009.pdf

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