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: FBN1: 7988G>A; Cys2663Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBN1: 7988G>A; Cys2663Tyr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Six Shades of Vascular Smooth Muscle Cells Illuminated by KLF4 (Krüppel-Like Factor 4).

Arteriosclerosis, Thrombosis, And Vascular Biology

Yap, Carmen C; Mieremet, Arnout A; de Vries, Carlie J M CJM; Micha, Dimitra D; de Waard, Vivian V

Publication Date: 2021-11

Variant appearance in text: FBN1: 7988G>A

PubMed Link: 34470477

Variant Present in the following documents:

• atv-41-2693.pdf

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Single-Cell Transcriptomic Profiling of Vascular Smooth Muscle Cell Phenotype Modulation in Marfan Syndrome Aortic Aneurysm.

Arteriosclerosis, Thrombosis, And Vascular Biology

Pedroza, Albert J AJ; Tashima, Yasushi Y; Shad, Rohan R; Cheng, Paul P; Wirka, Robert R; Churovich, Samantha S; Nakamura, Ken K; Yokoyama, Nobu N; Cui, Jason Z JZ; Iosef, Cristiana C; Hiesinger, William W; Quertermous, Thomas T; Fischbein, Michael P MP

Publication Date: 2020-09

Variant appearance in text: FBN1: 7988G>A

PubMed Link: 32698686

Variant Present in the following documents:

• Main text

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Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific Reports

Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R

Publication Date: 2017-08-30

Variant appearance in text: FBN1: 7988G>A; Cys2663Tyr

PubMed Link: 28855619

Variant Present in the following documents:

• Main text
• 41598_2017_Article_9785.pdf

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