Publications:

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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: 6772T>C; Cys2258Arg

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: 6772T>C; Cys2258Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.

Bmc Medical Genomics

Beil, Adelyn A; Hornsby, Whitney W; Uhlmann, Wendy R WR; Aatre, Rajani R; Arscott, Patricia P; Wolford, Brooke B; Eagle, Kim A KA; Yang, Bo B; McNamara, Jennifer J; Willer, Cristen C; Roberts, J Scott JS

Publication Date: 2021-03-01

Variant appearance in text: FBN1: Cys2258Arg

PubMed Link: 33648514

Variant Present in the following documents:

• Main text
• 12920_2021_Article_902.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: FBN1: 6772T>C; Cys2258Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 6772T>C; C2258R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

Circulation. Genomic And Precision Medicine

Wolford, Brooke N BN; Hornsby, Whitney E WE; Guo, Dongchuan D; Zhou, Wei W; Lin, Maoxuan M; Farhat, Linda L; McNamara, Jennifer J; Driscoll, Anisa A; Wu, Xiaoting X; Schmidt, Ellen M EM; Norton, Elizabeth L EL; Mathis, Michael R MR; Ganesh, Santhi K SK; Douville, Nicholas J NJ; Brummett, Chad M CM; Kitzman, Jacob J; Chen, Y Eugene YE; Kim, Karen K; Deeb, G Michael GM; Patel, Himanshu H; Eagle, Kim A KA; Milewicz, Dianna M DM; J Willer, Cristen C; Yang, Bo B

Publication Date: 2019-06

Variant appearance in text: FBN1: C2258R; rs1057520617

PubMed Link: 31211624

Variant Present in the following documents:

• Main text

View BVdb publication page

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